All Heart

Marfan Syndrome

2007-03-28T09:27:00.000+01:00

Marfan Syndrome

What is Marfan syndrome?

The Marfan syndrome is a genetic disorder that affects the body's connective tissues, or the tissues in between the main cells of each organ of the body.

All organs contain connective tissue and, hence, the manifestations of Marfan syndrome appear in many parts of the body, especially the skeletal system, the eyes, the heart and blood vessels and the lungs.

The term "syndrome" refers to the collection of physical findings that occur together often enough to provide a recognizable pattern that allows the diagnosis to be made. It was first described in a six year old girl by the French pediatrician, Antoine Marfan, in 1896.

Manifestations of Marfan syndrome

The heart is affected in nearly 80 percent of patients with this syndrome. The most important finding is enlargement or dilation of the aorta, the main blood vessel that carries blood to the body. This abnormality in connective tissue of the first few inches of the aorta allows the aorta to stretch sufficiently to cause tearing or rupture.

Additionally, as the aorta widens, the leaflets of the aortic valve may be stretched to a point where they fail to close completely and will thereby allow blood to leak back into the heart, causing the left ventricle to enlarge. If left untreated, the heart can go into failure.

Another valve of the heart that frequently is affected is the mitral valve, which may also leak causing the heart to become large and work harder.

In general, the skeletal system may be affected in different ways. A person with Marfan syndrome will usually be tall, slender and somewhat loose jointed or limber.

The arms, legs, fingers and toes may be disproportionately long when compared to the trunk.

Scoliosis is frequently common, and the breastbone may be either very prominent or depressed.

Lenses in eyes of patients with Marfan syndrome are dislocated in a high percentage of cases. This most often causes nearsightedness, and the degree of visual disturbance may be mild or quite severe. In addition, the retina of the eye may become detached.

The skin often exhibits stretch marks, known as stria atrophicae. These can occur in anyone particularly as a result of pregnancy or marked weight gain and loss. However, patients with Marfan syndrome tend to develop stria at an early age and without weight change. These stria tend to appear on the shoulders, hips and lower back.

The lungs also need connective tissue to provide stability and elasticity to the tiny air sacs. Although the altered lung elasticity rarely causes any noticeable problems, patients with Marfan syndrome may develop spontaneous collapse (or pneumothorax) of a lung at a rate of about 50 times greater than the general population. This can occur after a minor blow to the chest or out of the blue.

Marfan syndrome causes

The cause of the Marfan syndrome is now known. A gene located on chromosome 15 encodes a specialized protein called "fibrillin" that contributes to the production of normally functioning connective tissue in our body. In Marfan syndrome, a mutation of that gene occurs.

Unfortunately, not all patients with Marfan syndrome have the same abnormal genetic protein. There may be slight variations or mutations in the fibrillin gene, which can produce the same findings in all patients.

The gene is inherited as an autosomal dominant condition, which means that only one parent needs to have the mutation to pass it on to their children. Usually everyone in the same family who has the Marfan syndrome has the same variation or mutation.

Unrelated patients or families appear to have different mutations. Identifying the mutations is a very time-consuming job, and a routine medical test to diagnose the syndrome is not yet available.

How Marfan syndrome is diagnosed

Although Marfan syndrome is more common than previously thought -- it may affect one out of 3,000 to 5,000 individuals -- it remains an uncommon condition. Because of this, the diagnostic evaluation for this syndrome should be performed by physicians experienced with the condition. Evaluation includes a detailed family history and physical examination.

Since the syndrome involves many bodily systems, the syndrome can be divided into major or minor criteria.

Approximately 80 percent of patients with Marfan syndrome will have a positive family history, which is one major criterion of the syndrome. This requires a very specific diagnosis of the syndrome in other family members, not just someone who is unusually tall. In the rest of the patients, the syndrome results from a new mutation in the sperm and ova of the parents.

A second major criterion for diagnosing the syndrome involves the skeleton. The most consistent and reliable measure is an abnormally low ratio of the upper trunk of the body to the lower extremities. This ratio is generally less than 0.87 in African-Americans to 0.92 in Caucasians.

Another abnormal measurement includes the comparison of the arm span to the total height of the individual, where the arm span to height ratio exceeds 1.05. Other features include abnormalities of the sternum (breastbone), joint hyperextensibility, scoliosis, etc.

A third major criterion for this diagnosis is ocular, or related to the eyes. Virtually all patients with Marfan syndrome have myopia or nearsightedness.

About 70 percent of patients have ectopia lentis or dislocated lenses of the eyes. This may be very mild. Hence, determination of this abnormality requires dilation of the pupils and slit lamp examination by an experienced physician or practitioner.

The fourth major criterion is cardiovascular and includes aortic dilation or dissection.

Minor criteria include mitral valve prolapse, spontaneous pneumothorax, stretch marks, or recurrent incisional hernias.

In order for the diagnosis of Marfan syndrome to be made in the first identifiable case of a family, at least two major criteria in different systems and involvement of a third system must be present. If there is a positive family history, a major criterion in one system and involvement of either major or minor criteria in a second system will permit the diagnosis to be made.

Treating Marfan syndrome patients

Although there is no "cure" for this condition, effective treatment is available. Management and treatment of the Marfan syndrome are best discussed and understood by directing attention to the affected organ systems.

The Heart and Aorta: Perhaps one of the most well-known and frightening complications of this syndrome is the sudden rupture of the aorta. Recently, there has been much media attention regarding this tragic event in several athletes.

Therefore, the first line of defense is detection of this abnormality. It can only be accurately diagnosed and monitored through routine imaging techniques.

The most common of these is echocardiography, which can not only evaluate the size of the aorta and the progression but also the size of the heart and any involvement of the valves of the heart.

Routine echocardiography for those patients without obvious cardiovascular problems can be performed on a yearly basis. Enlargement of the aorta, particularly significant enlargement, is often monitored every six months to observe sudden increases in the size of the aorta or progressive enlargement, which may require treatment.

If the aortic valve begins to leak or if the aorta begins to enlarge excessively, surgical intervention by repairing or replacing either the valve or the enlarged aorta may be necessary.

Presently, Marfan patients are best advised to have this surgical intervention performed in a medical center that has a good deal of experience with the syndrome.

In some instances, magnetic resonance imaging (MRI) may be utilized to diagnose and regularly evaluate the size of the aorta after surgery or a rupture.

In addition to monitoring the size of the aorta once it is enlarged, several important medical recommendations are made.

Patients with an enlarged aorta will be advised against participating in any high impact or high isometric or static activities, such as weight lifting, football, basketball, etc. These activities can cause sudden excessive enlargement of the aorta leading to tearing or possible rupture.

In addition, medications, called "beta blockers," will be prescribed to regulate blood pressure and heart rhythm. These medications help blunt the sudden rise in blood pressure and/or heart rate that occur during activities and may prevent further enlargement of the aorta or reduce the aortic size. Stress tests may be ordered to help monitor the effectiveness of these drugs.

Skeletal System: In the skeletal system, severe curvature of the spine and/or deformity of the breast bone (sternum) represent the most serious problems, mostly related to the impact these have on lung function.

These skeletal abnormalities need to be evaluated by general surgeons or orthopedic surgeons who are experienced in the skeletal deformities, since many of them may require specialized surgery to correct them.

Various surgical procedures can stabilize the spine if there is significant spinal deformity, and techniques are available to correct severe depression of the breast bone.

The Eyes: The major problem with the eyes is dislocation of the lenses. In most patients, dislocation of the lens is a minor problem and may actually interfere with vision requiring special eyeglasses or contact lenses. On rare occasions the lens may have to be removed.

Because of the increased risk of retinal detachments, activities that involve blows to the head such as football, boxing and diving should be avoided.

Other Systems: Because of the risk of lung collapse (pneumothorax), Marfan syndrome patients should not subject themselves to extremes of air pressure or rapid changes in pressure. For example, Marfan syndrome patients should avoid riding in unpressurized aircraft or diving under water more than several feet.

As mentioned above, the stretch marks on the skin do not cause problems and, although they are unsightly, cannot be prevented.

Dental hygiene is especially important for people at risk for infection of the heart valves when there is leakage. It is certainly crucial for those with artificial valves. Good dental care and evaluation are also important if there is malalignment or malocclusion (faulty contact of the upper and lower teeth) of the jaw.

please see links to the right for Marfan Association UK for further help, advice and support

Interrupted Aortic Arch / Ventricular Septal Defect

2007-03-14T21:47:00.000Z

Interrupted Aortic Arch / Ventricular Septal Defect

What is Interrupted Aortic Arch / ventricular septal defect?

The aorta is the main blood vessel that carries oxygen-rich blood away from the heart to the organs of the body. After it leaves the heart it ascends in the chest to give off blood vessels to the arms and head, then arches turns downward towards the lower half of the body.

Interrupted Aortic Arch (IAA) is the absence or discontinuation of a portion of the aortic arch. There are three types of Interrupted Aortic Arch, and they are classified according to the site of the interruption.

Type A: the interruption occurs just beyond the left subclavian artery. Approximately 30 percent to 40 percent of the infants with Interrupted Aortic Arch have Type A.

Type B : the interruption occurs between the left carotid artery and the left subclavian artery. Type B is the most common form of Interrupted Aortic Arch. It accounts for about 53 percent of reported cases.

Type C:
the interruption occurs between the innominate artery and the left carotid artery. Type C is the least common form of Interrupted Aortic Arch, accounting for about 4 percent of reported cases.

Interrupted Aortic Arch is thought to be a result of faulty development of the aortic arch system during the fifth to seventh week of fetal development. This defect is almost always associated with a large ventricular septal defect (VSD). Patients with Interrupted Aortic Arch (particularly those with type B) often have a chromosomal abnormality called DiGeorge syndrome. In addition to Interrupted Aortic Arch, patients with DiGeorge syndrome may have problems with low calcium, developmental delay, and immune system abnormalities.
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Problems caused by Interrupted Aortic Arch / ventricular septal defect

In patients with Interrupted Aortic Arch, oxygen-rich blood from the left side of the heart is not able to reach all areas of the body because of the defect in the aortic arch. An infant with Interrupted Aortic Arch must depend on an alternate way to get adequate blood flow to the lower body.

While the ductus arteriosus is open, infants may not have noticeable symptoms and may not be diagnosed. As the ductus arteriosus starts to close, however, the infant begins to show signs and symptoms of inadequate blood flow to the area after the interruption, resulting in severe symptoms including shock congestive heart failure.

If a ventricular septal defect is present, blood will be diverted (shunted) from the left side to the right side of the heart. This shunting causes an increase blood flow to the lungs, which leads to congestive heart failure as well.

What are the signs and symptoms of interrupted aortic arch with ventricular septal defect?

Signs and symptoms of poor perfusion or congestive heart failure may develop when the ductus arteriosus begins to close, usually within the first day or two of life.

The infant may develop weakness, fatigue, poor feeding, rapid breathing, fast heart rate, or low oxygen levels, particularly when measured in the legs and feet.

This condition can worsen and lead to shock. The infant will then be pale, mottled, cool, with decreased urine output and poor pulses especially in the lower extremities.

Diagnosing Interrupted Aortic Arch

Diagnosis of Interrupted Aortic Arch may be suspected based on the symptoms the infant has on presentation. It is then confirmed by an echocardiogram. Once the diagnosis is suspected and confirmed, treatment and surgical intervention are vitally important.

Interrupted aortic arch treatment

Immediate treatment includes the administration of a prostaglandin infusion. Prostaglandin is a medication that is administered intravenously and keeps the ductus arteriosus open. This allows blood flow to the lower body until surgery is done to re-establish continuity of the aortic arch.

Goals of treatment are aimed at stabilizing and supporting the infant until surgical intervention. Such treatment may include:

intubation (endotracheal tube placed in the airway to support breathing);

diuretic therapy to help the infant urinate excess fluid; administration of inotropic medications (medications to help improve the pumping action of the heart);

monitoring and correction of abnormal blood gases (carbon dioxide and oxygen levels in the blood) and electrolytes (potassium and calcium levels in the blood); and administration of nutrition.
The goal of surgery is to reconnect the aortic arch to create a continuous "tube" and close the ventricular septal defect. Surgery is typically performed urgently but after the infant is stabilized.

Open-heart surgery will be done to connect the two separate portions of the aorta, close the ventricular septal defect, and tie off (ligate) the patent ductus arteriosus.

Complications after Interrupted Aortic Arch repair may include residual obstruction or stenosis (narrowing) at the aortic repair site.

The aortic valve or the area below the valve are often small and may not grow, which can result in stenosis (narrowing) months or years following surgery.

Surgery results

The risk of complications both early and late following the repair of interrupted aortic arch with ventricular septal defect depends on a number of factors.

Very small size of the aortic valve region or significant instability in the preoperative period increase the chance of later problems.

Survival after complete repair of the aortic arch and ventricular septal defect in the newborn period is 90 percent or greater in most pediatric heart centers.

Long-term follow-up by the cardiologist to assess growth of the aortic valve region and the reconstructed aortic arch is essential. Reoperation to address further problems with these areas may be needed in 10 to 20 percent of patients.

Ebstein's Anomaly

2007-03-14T21:43:00.000Z

Ebstein's Anomaly

What is Ebstein's Anomaly?

Ebstein's anomaly is an abnormality in the tricuspid valve. The tricuspid valve separates the right atrium (the chamber that receives blood from the body) from the right ventricle (the chamber that pumps blood to the lungs).

In Ebstein's anomaly, two leaflets of the tricuspid valve are displaced downward into the pumping chamber and the third leaflet is elongated and may be adherent to the wall of the chamber. These abnormalities cause the tricuspid valve to leak blood backwards into the right atrium when the right ventricle contracts and as a result, the right atrium becomes enlarged and. If severe enough, congestive heart failure can result. More rarely, the valve is so deformed that it will not allow blood to flow easily in the normal direction (right atrium to right ventricle).

If pressure within the right atrium becomes very high due to the excessive backflow into it, a communication between the right atrium and left atrium known as the foramen ovale (which is normally present in the fetus and usually closes after birth) will remain open. This connection allows unoxygenated ("blue") blood to flow from the right atrium, bypassing the lungs and going directly to the body. This will result in lower oxygen levels in the blood.

Ebstein's anomaly may occur with other heart lesions, such as pulmonary valve stenosis or atresia, atrial septal defect or ventricular septal defect. In addition, many patients with Ebstein's anomaly have an accessory (extra) conduction pathway in the heart (Wolff-Parkinson-White syndrome) leading to episodes of abnormal fast heart rate (supraventricular tachycardia.)

What signs or symptoms are associated with Ebstein's anomaly?

Ebstein's anomaly can range from very mild, with little symptoms, to very severe.Many patients with milder forms of Ebstein's anomaly do not have symptoms are diagnosed due to the presence of a heart murmur. Abnormal or extra heart sounds may also be present on the physical examination.

Some babies and children have bluish discoloration to their lips and nail beds (cyanosis), due to the flow of blood from the right atrium to the left atrium. Children may complain that their heart races, skips a beat, or "hiccoughs." They may tire more easily than other children or become short of breath, particularly during play. In adolescents and young adults, the sensation of "heart skipping" (palpitations) or fast heart rate, shortness of breath, and chest pain may be the first symptoms. Growth and development are usually normal in patients with Ebstein's anomaly.

Severely affected babies are often critically ill at birth, with low oxygen saturations (cyanosis) and heart failure requiring intensive care.

Non-surgical technique replaces the need for open-heart surgery

2007-03-02T11:49:00.000Z

Due to this being a very new proceedure by Professor Philipp Bonhoeffer for the Pulmonary Valve replacment I am leaving the links for the description and the images for you to see for yourself on the GOSH (Great Ormond Street) web site. So please go and take a look..

valve replacment

Images

Pulmonary Valvar Stenosis

2007-03-02T10:10:00.000Z

Pulmonary Valvar Stenosis

What is Pulmonary Valvar Stenosis?

Pulmonary stenosis is a condition characterized by obstruction to blood flow from the right ventricle to the pulmonary artery.

This obstruction is caused by narrowing or stenosis at one or more of several points from the right ventricle to the pulmonary artery. It includes obstruction from thickened muscle below the pulmonary valve, narrowing of the valve itself, or narrowing of the pulmonary artery above the valve.

The most common form of pulmonary stenosis is obstruction at the valve itself, referred to as pulmonary valvar stenosis.

The normal pulmonary valve consists of three thin and pliable valve leaflets. When the right ventricle ejects blood into the pulmonary artery, the normal pulmonary valve leaflets spread apart easily and cause no obstruction (blockage) to outflow of blood from the heart.

Pulmonary valve stenosis occurs when abnormalities of the pulmonary valve lead to narrowing and obstruction between the right ventricle and the pulmonary artery.

Most commonly, the pulmonary valve leaflets are thickened and fused together along their separation lines (commissures).

When the tissue is thickened, the leaflets become less pliable than normal and this also contributes to the obstruction. At times, the diameter of the pulmonary valve itself is small or hypoplastic.

When the pulmonary valve is obstructed, the right ventricle must work harder to eject blood into the pulmonary artery. To compensate for this additional workload, the muscle of the right ventricle (the myocardium) gradually thickens to provide additional strength to right ventricular ejection.

The increased right ventricular muscle, known as hypertrophy, is rarely a problem in itself, but instead is an indication that significant valve obstruction exists.

When the pulmonary valve is severely obstructed, especially in newborns with critical degrees of pulmonary stenosis, the right ventricle cannot eject sufficient volume of blood flow into the pulmonary artery.

In these instances, blue blood bypasses the right ventricle flowing from the right atrium to left atrium, through the foramen ovale, a communication or "hole" between these two chambers that is normally present in newborns. Newborns with critical pulmonary stenosis therefore will have cyanosis (blue discoloration of the lips and nailbeds) due to lower oxygen levels in their blood.

Right ventricular failure rarely occurs with pulmonary valve stenosis.

Pulmonary valvar stenosis signs and symptoms

Children with pulmonary valvar stenosis are usually asymptomatic and in normal health.

A heart murmur is the most common sign detected by a physician indicating that a valve problem may be present. Children with mild-to-moderate degrees of pulmonary valve stenosis have easily detectable heart murmurs, but typically do not have any symptoms.

Symptoms occur only with severe pulmonary valve stenosis.

A newborn with critical pulmonary valve stenosis develops cyanosis in the first few days of life. This is due to diminished volume of blood flow into the lungs, together with a shunt of blue blood from right to left atrium.

A newborn with critical pulmonary stenosis presents an emergency situation that requires immediate treatment, either balloon dilation of the valve or surgery.

In an older child, severe pulmonary valve stenosis may cause easy fatigue or shortness of breath with physical exertion. Severe pulmonary valve stenosis rarely results in right ventricular failure or sudden death.

Diagnosing pulmonary valvar stenosis

The diagnosis of pulmonary stenosis is usually first suspected because a physician detects a heart murmur.

The heart murmur of pulmonary stenosis is a turbulent noise caused by ejection of blood through the obstructed valve.

There is often an associated click sound when the thickened valve snaps to its open position. These sounds can be detected through careful examination of the heart by a physician well-trained in cardiac diagnosis.

Other testing may confirm the presence of pulmonary stenosis and help to document its severity.

The electrocardiogram is typically normal in the presence of mild pulmonary stenosis. With moderate-to-severe pulmonary stenosis the electrocardiogram may show enlargement of the right ventricle and thickening of its muscle.

The echocardiogram is the most important non-invasive test to detect and evaluate pulmonary valve stenosis. The echocardiogram accurately documents that the obstruction is present at the valve level and Doppler studies are used to estimate the degree of obstruction.

The echocardiogram is also important to exclude other problems that may be associated with pulmonary stenosis, such as an atrial septal defect (ASD) or ventricular septal defect (VSD).

Cardiac catheterization is an invasive technique that enables physicians to accurately measure the degree of pulmonary stenosis that is present. During cardiac catheterization, pressure measurements are made above and below the valve to define the amount of obstruction and motion pictures are taken to visualize the pulmonary valve.

During the past 15 years, echocardiography has generally replaced cardiac catheterization for the detection and measurement of pulmonary valve stenosis. Cardiac catheterization is rarely needed to make the diagnosis but, instead, is typically done to perform a balloon dilation procedure described below.

Pulmonary valvar stenosis treatments

Children with mild pulmonary valve stenosis rarely require treatment. Patients with mild pulmonary valve stenosis are healthy, can participate in all types of physical activities and sporting events, and lead normal lives.

Mild pulmonary valve stenosis in childhood rarely progresses after the first year of life. However, mild pulmonary stenosis in a young infant may progress to more severe degrees and requires careful follow-up.

Children with moderate-to-severe degrees of pulmonary stenosis require treatment, the timing of which is often elective.

The type of treatment required depends on the type of valve abnormality present. Most commonly, the stenotic pulmonary valve is of normal size, and the obstruction is due to fusion along the commissures or lines of valve leaflet opening.

This "typical" form of pulmonary valve stenosis responds very nicely to balloon dilation. Balloon dilation valvuloplasty is performed at the time of cardiac catheterization and does not require open-heart surgery.

In the newborn, balloon dilation for critical pulmonary valve stenosis can be a technically challenging procedure as these newborns are often critically ill and unstable.

More typically, in older children the procedure is performed electively on an outpatient basis.

Open-heart surgical procedures are required for more complex valves, where balloon dilation is not sufficient therapy. These valves may be obstructed by thick and dysplastic leaflet tissue (such as in patients with Noonan Syndrome), and the diameter of the valve itself may be small in some cases.

For these conditions surgical pulmonary valvotomy (opening of the valve), partial valvectomy (removal of a portion of the leaflet), and possibly a transannular patch (patch from the right ventricle to pulmonary artery) may be required during the open-heart surgery repair.

Truncus Arteriosus

2007-03-02T10:00:00.000Z

Truncus Arteriosus

What is Truncus Arterious?

Normally there are two main blood vessels leaving the heart: the aorta carrying blood to the body and the pulmonary artery that branches immediately to carry blood to each lung.

Instead of having a separate pulmonary artery and aorta, each with their own three-leafed valves, a baby with truncus arteriosus has only one great blood vessel or trunk leaving the heart, which then branches into blood vessels that go to the lungs and the body.

This great vessel usually has one large valve which may have between two and five leaflets. Usually this great vessel sits over both the left and right ventricle. The upper portion of the wall between these two chambers is missing resulting in what is known as a ventricular septal defect (VSD). In rare cases, the ventricular septal defect is absent.

Truncus arteriosus signs and symptoms

A baby with truncus arteriosus usually begins to have problems in the first week of life. Their oxygen levels are often slightly lower than normal resulting in cyanosis.

Because of the excessive amount of blood flow to the lungs with this anomaly, congestive heart failure (CHF) develops in the first week or two of life. On chest X-ray, the heart looks big and the lung fields look hazy indicating pulmonary overcirculation.

Signs of congestive heart failure are rapid breathing, shortness of breath, wheezing, grunting or very noisy breathing, nasal flaring, retractions, and restlessness.

The liver may be large due to a backup of blood or systemic congestion. Neck vein distention, poor feeding, and facial swelling are also seen.

Most often parents report rapid breathing, poor feeding, and a bluish color of the skin, especially around the mouth and nose. The signs and symptoms often increase when the infant eats.

Truncus arteriosus diagnosis

While the diagnosis may be suspected by physical examination, the echocardiogram will confirm the presence of truncus arteriosus. The anatomy of the great vessels, the single, complex truncal valve and the ventricular septal defect are easily seen.

A cardiac catheterization may be done on rare occasions if anatomy appears very unusual, or the diagnosis is made later as information is needed regarding the pressures in the pulmonary arteries. In most cases, however, the echocardiogram gives enough information to plan for surgery.

Treating truncus arteriosus

Initial treatment begins with stabilizing the infant. Medications to control congestive heart failure such as diuretics are often begun.

Ensuring good nutrition may require the use of a feeding tube or intravenous hyperalimentation. Surgical correction is typically carried out in the first few weeks of life after the infant is maximally stabilized.

The surgical repair of truncus arteriosus requires the use of heart-lung bypass machine support. It involves three major components:

Separating the pulmonary arteries from the main truncus (the truncus will remain as the first part of the aorta);
closure of the ventricular septal defect using a patch
creating a connection between the right ventricle and the pulmonary arteries using a valved conduit, usually a homograft pulmonary artery.
Most infants will require a period of very close monitoring in the Cardiac Intensive Care Unit while their heart function recovers from the major reconstruction.

The use of mechanical ventilation, special monitoring lines, and strong intravenous medications is typical during this period.

Gradually, as the heart function stabilizes, the supporting measures may be withdrawn and conversion to oral medications and attention to feeding dominates the management program.

Time in hospital following surgery may vary from one to three weeks in most cases.

Truncus arteriosus treatment results

Currently over 90 percent of children survive repair of truncus arteriosus. As the child grows, they will be followed by their cardiologist.

Typically, there will be no physical restrictions imposed on the child. As a child grows, the conduit that was used to connect the right ventricle and pulmonary arteries will not, and this will lead to obstruction to blood flow. The progression of this narrowing is easily followed by the cardiologist using physical examination and echocardiograms.

Recommendation for surgery to replace the right ventricle to pulmonary artery conduit with a larger one is usually made long before any symptoms would be evident.

This conduit will often need to be replaced two or three times during childhood to accommodate for growth. These operations are typically tolerated very well with a hospitalization of less than a week.

Problems with the truncal valve are more serious and can significantly affect the early and late mortality of these children. The more leaky (or narrowed) this valve is, the greater the chance that some intervention has to be done sooner than later (on average within 5 to 7 years) to prevent severe damage to the heart.

Delayed Sternal Closure

On occasion after an open-heart procedure, the child’s hemodynamics may be tenuous. Added to that, not infrequently there is some swelling of the heart muscle from surgery and the inflammation induced by the heart-lung machine.

For that reason, at times surgeons elect to leave the chest open only to close it a few days later. In this way, the breastbone is prevented from pushing on the heart in the most critical and early hours after an operation. Despite this, the heart itself is not exposed; a layer of soft protective material is sewn to the skin edges to provide coverage of the heart, along with sterile bandages.

To minimize the slightly increased risk of infection, antibiotics are continued during the time the chest is open. Generally, the chest is closed in the intensive care unit under the same heavy sedation and analgesia that is provided to the infant during this time.

Intraaortic Balloon Pump

The intraaortic balloon pump (IABP) is a device used in some critically ill patients to help reduce the work of the failing heart. The IABP is sometimes used during cardiac surgery to help remove the patient from the heart-lung bypass machine. It is sometimes used to help the heart of severely ill patient who is awaiting a cardiac transplant. At times it is used for a patient suffering from cardiogenic shock, a condition when the heart cannot pump well enough to keep adequate blood pressures.

The IABP is a long tube (catheter) with a collapsed, 8-inch, sausage-shaped plastic balloon at its tip. The catheter is inserted in an artery in the groin. The doctor directs the tube through the artery and positions it in the aorta. A pump is attached to the hub end of the catheter. The balloon is rapidly inflated and deflated using the heartbeat as a trigger. The end result is increased blood flow to the body at less cost to the heart.

Since blood clots can form around the catheter, blood thinners (anticoagulants) must be used after inserting the IABP. These clots can dislodge and embolize to other parts of circulation, causing blockage of arteries or even stroke. Although IABP can be used for weeks, when the catheter is left in for more than a few days, there is risk of infection. The IABP itself is rarely the cause of death. The disease requiring its use is usually responsible.

Left Ventricular Assist Device (LVAD)

A left ventricular assist device (LVAD) is a mechanical pump that helps a weakened heart pump blood throughout the body. It is typically used as a "bridge-to-transplant", but on occasion it is used in place of ECMO support, while the heart recovers. More recently, at some centers the LVAD device is being provided as an alternative to transplant or "destination therapy."

These devices are mostly geared toward adults, although some recent progress has been made in developing LVAD support for children. Often in the pediatric setting LVAD is used in the place of ECMO when the problem is strictly limited to the left side of the heart and the lungs appear to be fine. Although a right ventricular assist device (RVAD) can also be implemented when the right side of the heart is failing, generally ECMO support is preferred in that setting.

There are a variety of LVAD devices, but the one used most commonly in the pediatric setting is called the Biomedicus pump. Risk of bleeding and the need for anticoagulation (and therefore the need for transfusion of blood products) may be less with LVAD than ECMO.

Post-Pericardiotomy Syndrome (PPS)

Post-pericardiotomy syndrome is a condition that develops in about 2 to 15% of patients after open heart surgery. In this condition, the patient typically develops chest discomfort, fever and evidence of "inflammation" on blood tests. Although the etiology is unknown, it is believed to be some kind of immunologic reaction to the heart and pericardium as consequence of surgery.

The condition often occurs 1 to 2 weeks after open heart surgery and is associated with developing a pericardial effusion (fluid around the heart). An echocardiogram and EKG are performed and treatment is initiated based on signs and symptoms and the size of the pericardial effusion. If the fluid collection is large enough to be compromising heart function, the doctors may recommend tapping and removing the fluid under ultrasound guidance. Otherwise medical therapy is often adequate and consists of anti-inflammatory medications (e.g. ibuprofen or steroids).

Hypoplastic Right Heart Syndrome

2007-03-02T09:50:00.000Z

Hypoplastic Right Heart Syndrome

Hypoplastic right heart syndrome (HRHS) refers to underdevelopment of the right sided structures of the heart. These defects cause inadequate blood flow to the lungs and thus, a blue or cyanotic infant. The major problem is pulmonary valve atresia (absence). This valve normally opens and closes to let blood flow to the pulmonary artery. Secondary problems include a very small (hypoplastic) right ventricle (lower chamber which normally pumps blood to the lungs); a small tricuspid valve (this valve allows blood to flow into the right ventricle) and a small (hypoplastic) pulmonary artery. Also, the blood flow into the coronary arteries may be abnormal causing damage to the heart muscle.

The infant is born with two connections that help blood flow. These are a foramen ovale (hole between the atria) and patent ductus arteriosus (or PDA, a blood vessel between the aorta and pulmonary artery). As these connections begin to close, the infant becomes critically ill.

Because the blue blood cannot pass through the right side of the heart to get to the lungs, it crosses into the left atrium and mixes with red blood returning from the lungs. This mixed blood is pumped out of the aorta. The only way in which blood gets to the lungs is through the PDA. The PDA must be maintained open with medicine (PGE1). Surgery is usually performed shortly after starting PGE1 to create an artificial connection (shunt) between the aorta and the pulmonary artery to deliver blood to the lungs.

2007-03-02T09:38:00.000Z

Atrioventricular Septal Defect / AV Canal

What is an atrioventricular septal defect (AVSD)?Atrioventricular septal defects (AVSD) are a relatively common family of congenital heart defects.

Also known as atrioventricular canal defects or endocardial cushion defects, they account for about 5 percent of all congenital heart disease, and are most common in infants with Down syndrome. (About 15 percent to 20 percent of newborns with Down syndrome have an atrioventricular septal defects).

The primary defect is the failure of formation of the part of the heart that arises from an embryonic structure called the endocardial cushions. The endocardial cushions are responsible for separating the central parts of the heart near the tricuspid and mitral valves (AV valves), which separate the atria from the ventricles.

The structures that develop from the endocardial cushions include the lower part of the atrial septum (wall that divides the right atrium from the left atrium) and the ventricular septum (wall that divides the right ventricle from the left ventricle) just below the tricuspid and mitral valves.

The endocardial cushions also complete the separation of the mitral and tricuspid valves by dividing the single valve between the embryonic atria and ventricles. An atrioventricular septal defect may involve failure of formation of any or all of these structures.

Atrioventricular septal defects forms / categoriesMost commonly, atrioventricular septal defects can be classified into one of three categories called complete, partial (or incomplete), or transitional.

A complete atrioventricular septal defect is one in which there are defects in all structures formed by the endocardial cushions. Therefore, there are defects (holes) in the atrial and ventricular septa, and the AV valve remains undivided or "common."

A partial or incomplete atrioventricular septal defect is one in which the part of the ventricular septum formed by the endocardial cushions has filled in, either by tissue from the AV valves or directly from the endocardial cushion tissue, and the tricuspid and mitral valves are divided into two distinct valves.

The defect is, therefore, primarily in the atrial septum and mitral valve. This type of atrial septal defect is referred to as an ostium primum atrial septal defect, and is usually associated with a cleft in the mitral valve that may cause the valve to leak.

The transitional type of defect looks similar to the complete form of atrioventricular septal defect, but the leaflets of the common AV valve are stuck to the ventricular septum thereby effectively dividing the valve into two valves and closing most of the hole between the ventricles.

As a result, a transitional atrioventricular septal defect behaves more like a partial atrioventricular septal defect, even though it looks more like a complete atrioventricular septal defect.

Atrioventricular septal defect is also a common part of more complex heart disease that occurs in heterotaxy syndromes.

These forms of atrioventricular septal defects usually result in the common AV valve opening predominantly into only one of the ventricles with the other ventricle being underdeveloped. These situations are more accurately described as single ventricle lesions such as hypoplastic left heart syndrome or tricuspid atresia.

Atrioventricular septal defects can also occur with other types of congenital heart disease such as coarctation of the aorta or tetralogy of Fallot.

Problems caused by atrioventricular septal defects
The specific type of defect strongly influences the symptoms that may develop and the timing and details of surgical repair.

A complete atrioventricular septal defect allows oxygenated blood that has returned from the lungs to the left atrium and ventricle to cross either the atrial or ventricular septum and go back out the pulmonary artery to the lungs.

This re-circulation of blood to the lungs, called a left-to-right shunt, is inefficient because the left ventricle must pump a volume of already oxygenated blood back to the lungs while trying to meet the body's usual demand for its own oxygenated blood.

The amount of extra blood pumped by the left ventricle is often an additional 2-3 times that required of a left ventricle in an anatomically normal heart.

Because there is a large hole in the ventricular septum, the high pressure normally generated by the left ventricle to propel blood throughout the body is also transmitted to the lungs. Under normal circumstances, the lungs have a blood pressure much lower than that in the rest of the body.

The presence of a large left-to-right shunt and the associated increased workload on the left ventricle and high pulmonary artery pressure cause the lungs to become engorged with blood, and causes fluid to leak from the bloodstream into the air spaces of the lungs.

This condition is called pulmonary edema and makes it harder for a baby with this condition to move his or her lungs and breathe comfortably. The combination of increased heart and lung work uses large amounts of calories and results in the constellation of symptoms referred to as congestive heart failure (CHF).

Atrioventricular septal defect symptoms
Babies with congestive heart failure breathe fast and hard, often sweat and / or tire out while feeding, and grow slowly or sometimes even lose weight. These symptoms usually develop gradually over the first 1-2 months of life.

The doctor will usually hear a loud heart murmur when this type of defect is present. The murmur is caused by the blood passing from the left ventricle to the right ventricle and out the pulmonary artery.

A small number of infants with a complete atrioventricular septal defect will not develop congestive heart failure. This occurs because in some cases, the muscle cells that line the small arteries to the lungs get bigger and constrict to try to protect the lungs from the extra flow and high pressure caused by the atrioventricular septal defect.

Called increased pulmonary vascular resistance (PVR) or pulmonary vascular disease, this condition is more common in infants with Down syndrome.

The increase in pulmonary vascular resistance is very effective in preventing the signs and symptoms of congestive heart failure by minimizing the amount of left-to-right shunt, and may even cause blood with low oxygen to go from the right ventricle to the left ventricle and out to the body without picking up oxygen.

This causes cyanosis, which is a bluish discoloration of the skin, fingernails and mouth and it may also cause the murmur to be softer.

While infants with a complete atrioventricular septal defect and elevated pulmonary vascular resistance often grow better and appear healthier those with low pulmonary vascular resistance and congestive heart failure, the occurrence of increased pulmonary vascular resistance is an indication to proceed quickly with surgical correction of the defect.

Repair of the atrioventricular septal defect lowers the pressure in the pulmonary artery and allows these muscles to relax before they become permanently constricted.

Infants with the partial or transitional forms of atrioventricular septal defects have more subtle signs and symptoms. Like children with a complete atrioventricular septal defect, they have an increased volume of blood passing through the pulmonary artery.

The main difference between a left-to-right shunt that occurs primarily between the atria rather than the ventricles is that the pressure in the pulmonary artery usually remains low despite the increase in flow.

This causes less work for the heart and lungs and results in fewer breathing and growth problems. It also lessens the possibility that the pulmonary vascular resistance will increase.

Nevertheless, there is an increased workload on the heart and growth may occur more slowly than infants and children with normal hearts. There is usually a heart murmur present, but it is softer than that which occurs with a complete atrioventricular septal defect.

These types of defects may not come to medical attention until the child is several months or even years old because of the subtlety of the signs and symptoms that may be associated with them.

Significant congestive heart failure, growth failure or a very loud murmur in a child with a partial atrioventricular septal defect can occur when the defect in the mitral valve leaflet causes this valve to be very leaky.

Diagnosing atrioventricular septal defects

A heart murmur is often the first clue that this heart defect exists. It is typically noted in the first week or two of life and it is not uncommon that no murmur is present at birth.

The diagnosis of atrioventricular septal defect in any form is easily made by echocardiography. Other useful tests include chest X-ray and an electrocardiogram. Both may show characteristic findings in atrioventricular septal defects.

Because of the high incidence of atrioventricular septal defects in infants with Down syndrome, all infants with Down syndrome should have an echocardiogram, even if they do not have a heart murmur or any of the signs or symptoms discussed above.

Atrioventricular septal defect treatments

Symptomatic infants with atrioventricular septal defects may improve with medicine, but in all cases corrective heart surgery will be necessary.

Medicines commonly used to treat congestive heart failure from left-to-right shunts in infants include diuretics such as lasix (furosimide), angiotensin converting enzyme (ACE) inhibitors such as captopril, and digoxin.

These type of defects will never close on their own and will always require corrective surgery for treatment.

Medical treatment of infants with atrioventricular septal defects is usually used to relieve symptoms and allow the baby to get big enough to undergo surgical repair with lower risks.

This usually occurs at 3-6 months for infants with a complete atrioventricular septal defect and 6-18 months for infants with a partial atrioventricular septal defect.

Surgical repair of either type of defect involves closure of the holes in the atrial and / or ventricular septa with a patch or patches, and reconstruction of the common atrioventricular valve.

A particularly challenging aspect of the repair of a complete atrioventricular septal defect is dividing the common AV valve found in this condition.

Complications following surgery can arise if the opening in the mitral valve is now too narrow or it is still very leaky. Other problems to be avoided include narrowing the path for blood to pass from the left ventricle to the aorta, or disturbances of the electrical system of the heart.

The specialized tissue that conducts the impulse for the heart to beat runs very near the area where the stitches for the ventricular patch need to be placed. If this is disrupted, placement of a pacemaker may be necessary.

Coarctation of the Aorta

2007-03-02T09:27:00.000Z

Coarctation of the Aorta

What is coarctation?

Coarctation of the aorta is a narrowing of the aorta, the main blood vessel carrying oxygen-rich blood from the left ventricle of the heart to all of the organs of the body.

Coarctation occurs most commonly in a short segment of the aorta just beyond where the arteries to the head and arms take off, as the aorta arches inferiorly toward the abdomen and legs.

This portion of the aorta is called the "juxta-ductal" part of the aorta, or the part near where the ductus arteriosus attaches. (Please see the illustration.)

The ductus arteriosus is a blood vessel that is normally present in a fetus and has special tissue in its wall that causes it to close in the first hours or days of life. It is thought that coarctation may be caused by the presence of extra ductal tissue extending into the adjacent aorta which results in aortic narrowing as the ductal tissue contracts.

In babies with coarctation, the aortic arch may be small (hypoplastic). Coarctation may also occur along with other cardiac defects, typically involving the left side of the heart. The defects most commonly seen with coarctation are bicuspid aortic valve and ventricular septal defect. Coarctation may also be seen as a part of more complex, single ventricle cardiac defects.

Coarctation of the aorta is common in patients with some chromosomal abnormalities, such as Turner's syndrome.

In the presence of a coarctation, the left ventricle has to work harder, since it must generate a higher pressure than normal to force blood through the narrow segment of the aorta to the lower part of the body.

If the narrowing is severe, the ventricle may not be strong enough to perform this extra work resulting in congestive heart failure or inadequate blood flow to the organs of the body.

Detecting coarctation
The age at which coarctation is detected depends on the severity of the narrowing.

In approximately 50 percent of cases of isolated coarctation, the narrowing is severe enough to cause symptoms in the first days of life when the ductus arteriosus closes. When the ductus arteriosus closes, the left ventricle must suddenly pump against much higher resistance which can lead to heart failure. In addition, there is impaired blood flow to the organs beyond the coarctation. Because these newborns are well until the ductus arteriosus closes, symptoms appear rapidly and are often severe.

Coarctation is suspected when the physician is unable to feel pulses in the groin or the legs of an infant. A murmur is sometimes, but not always, present in infants with coarctation.

The diagnosis of coarctation is usually made with echocardiography, which can define the anatomy of the aorta and evaluate for other cardiac anomalies.

When a coarctation goes undetected in the newborn period, it may go unrecognized for many years in some cases. Since the narrowing is generally less severe or has progressed more slowly, the left ventricle has had time to thicken (hypertrophy) in order to pump against the narrowing. After infancy, the most frequent findings leading to the detection of coarctation are a heart murmur, diminished lower extremity pulses, or hypertension (high blood pressure) in the arms.

Echocardiography is the most common test used to confirm the diagnosis, but occasionally in older children this region is difficult to image well by echocardiography. In such cases, MRI or CT scan may be used. Cardiac catheterization is rarely necessary for diagnosis.

Managing coarctation

In a critically ill newborn, the goals of management are to improve ventricular function and restore blood flow to the lower body. A continuous intravenous medication, prostaglandin (PGE-1), is used to pen the ductus arteriosus (and maintain it in an open state) allowing blood flow to areas beyond the coarctation. It is also often necessary to begin intravenous medications that improve the contraction of the heart. Babies will almost always need to be placed on a ventilator before surgery.

In symptomatic newborns with coarctation, surgical repair is usually done on an urgent basis following initial stabilization. Rarely, an infant will not improve with medical therapy and surgery must proceed before the infant has been stabilized.

There a number of surgical techniques to repair coarctation. The most common repair involves resection (removal) of the narrowed area with reanastamosis (reconnection) of the two ends to each other. Sometimes the resection (removal) must be extended towards the arch if there is a longer segment of narrowing. Less commonly, the narrowing may be opened with a patch or a portion of an artery may be used as a flap to expand the area (called a subclavian flap aortoplasty).

Since older children have less severe symptoms, coarctation repair is typically planned electively. Surgical resection is most commonly performed with resection of the narrowed segment and end-to-end reconnection. Occasionally, patching of the aorta may be necessary.

In older children, an alternative to surgery may be catheter-based therapy. In selected cases, the area of narrowing may be dilated with a balloon. Occasionally placement of a mesh-covered stent may be necessary in addition to the balloon dilation to keep the area open. The characteristics of the narrowing and the age of the child are considered in deciding if balloon dilation is an option for treatment. Balloon dilation as initial therapy for coarctation is somewhat controversial, especially in infants and younger children and is therefore generally only considered in older children. However, it is widely accepted as first-line treatment for recurrence of coarctation following surgical repair in all ages, with excellent results.

Atrial Septal Defect (ASD)

2007-03-01T13:19:00.000Z

Atrial Septal Defect (ASD)

What is an Atrial Septal Defect?

The heart is divided into four separate chambers. The upper chambers, or atria, are divided by a wall called the septum. An atrial septal defect (ASD) is a hole in that septum. Atrial septal defects are one of the most common heart defects seen.

When an atrial septal defect is present, blood flows through the hole primarily from the left atrium to the right atrium. This shunting increases the blood volume in the right atrium which means more blood flows through the lungs than would normally.

If left untreated, atrial septal defect may cause problems in adulthood. These problems may include pulmonary hypertension (which is high blood pressure in the lungs), congestive heart failure (weakening of the heart muscle), atrial arrhythmias (which are abnormal rhythms or beating of the heart) and an increased risk of stroke.

Atrial septal defect signs and symptoms?

In most children, atrial septal defects cause no symptoms. A very large defect may allow so much blood flow through it to cause congestive heart failure symptoms such as shortness of breath, easy fatigability, or poor growth.

Most often an atrial septal defect is diagnosed when a physician hears a heart murmur during a physical examination.

The murmur doesn't actually come from blood going across the hole, but rather from the pulmonary valve area because the heart is forcing an unusually large amount of blood through a normal sized valve.

The second heart sound is characteristically "split" which is different than what is heard when listening to a normal heart.

Diagnosis atrial septal defects

Hearing a murmur on a physical exam is the most common reason an atrial septal defect is suspected. Echocardiography is the primary method used to confirm the presence of an atrial septal defect.

Echocardiography can show not only the hole and its size, but also any enlargement of the right atrium and ventricle in response to the extra work they are doing.

An electrocardiogram (EKG) may show evidence of thickening of the heart muscle and a chest X-ray may show enlargement of the heart and increased blood flow to the lungs.

Atrial septal defects treatment

In some children an ASD may close on it's own without treatment. With a small atrial septal defect, this may be as high as 80 percent in the first 18 months of life. An ASD still present by 3 years of age will probably never close on its own.

Open-Heart Surgery

An atrial septal defect is most commonly closed by open-heart surgery. The surgeon may be able to directly close the hole with sutures or, depending on the size and shape of the hole, may need to close it with a patch.

Amplatzer Septal Occluder

Depending on the size and the area of the septum involved, many atrial septal defects may be closed by placement of a device called an Amplatzer Septal Occluder during a cardiac catheterization. This device, which was approved by the FDA in December 2001, is inserted through a catheter and covers the ASD by attaching to the atrial septum.

The benefits of being able to close an atrial septal defect with an Amplatzer device is that it can be put in place without stopping the patient's heart or utilizing cardiopulmonary bypass, it doesn't have the psychological trauma related to open-heart surgery and it doesn't create a scarring across the chest the way open-heart surgery does.

Atrial septal defect closure results

Surgical closure of atrial septal defects is complication free in over 99 percent of cases. Although the Amplatzer device has only been utilized for several years, it's success rate also appears to be very high. After ASD closure in childhood, the heart size returns to normal over a period of four to six months.

Following closure of an atrial septal defect, there should be no problems with physical activity and no restrictions. Regular follow-up appointments will be made with a cardiologist.

Aortic Stenosis

2007-03-01T10:56:00.000Z

Aortic Stenosis

What is Aortic Stenosis?

Aortic Stenosis refers to a condition that causes obstruction to blood flow between the left ventricle and the aorta. There are a variety of causes, including muscular obstruction below the aortic valve, obstruction at the valve itself, or aortic narrowing immediately above the valve.

The most common form of aortic stenosis is obstruction at the valve itself, referred to as aortic valvar stenosis, which is the subject of this section.

The normal aortic valve consists of three thin and pliable valve leaflets. When the left ventricle ejects blood into the aorta, normal aortic valve leaflets spread apart easily and cause no obstruction to outflow of the blood from the heart.

Aortic stenosis occurs when abnormalities of the aortic valve lead to narrowing and obstruction between the left ventricle and the aorta.

The most common abnormality occurs when the aortic valve has only two, rather than three, leaflets: a bicuspid aortic valve. Often these leaflets are thickened and less pliable than normal, and the lines of separation between them (the commissures) are fused together to a variable degree. When the aortic valve does not open freely, the left ventricle must work harder to eject blood into the aorta.

To compensate for this additional workload, the muscle of the left ventricle (the myocardium) gradually thickens to provide additional strength to left ventricular ejection.

The increased left ventricular muscle, also known as hypertrophy, is rarely a problem itself, but instead is an indication of significant valve obstruction. When the aortic valve is severely obstructed, the left ventricular muscle may not be able to compensate satisfactorily.

In these very severe, but fortunately rare, instances the left ventricle may fail to pump blood effectively and the patient may develop cardiac failure. If this occurs it is almost always in a newborn infant with very severe valve obstruction; heart failure rarely occurs later in childhood.

What are the signs and symptoms of aortic stenosis

Children with aortic valvar stenosis are usually asymptomatic and in normal health. A heart murmur is the most common sign detected by a physician indicating that a valve problem may be present.

Children with mild-to-moderate degrees of aortic valve stenosis will have easily detectable heart murmurs, and are typically without any symptoms at all.

Symptoms occur only with severe aortic stenosis. A newborn with critical aortic valve stenosis develops heart failure in the first days of life. This is an emergency situation that requires immediate treatment, either balloon dilation of the valve or surgery.

In an older child, severe aortic stenosis rarely causes heart failure. The child may experience chest pain, lightheadedness or fainting spells particularly associated with exercise. Severe aortic stenosis is a rare, but well-documented, cause of sudden death during strenuous sports activities.

What evaluations are used to make the diagnosis?

The diagnosis of aortic stenosis is usually first suspected because a physician detects a heart murmur. The heart murmur of aortic stenosis is a turbulent noise caused by ejection of blood through the obstructed valve.

There is often an associated click sound when the thickened valve snaps to its open position. These sounds can be detected through careful examination of the heart by a physician well-trained in cardiac diagnosis.

Other testing may confirm the presence of aortic stenosis and help to document its severity. An electrocardiogram is often obtained. The electrocardiogram is typically normal in the presence of mild-to-moderate aortic stenosis.

With severe aortic stenosis, the electrocardiogram can show enlargement of the left ventricle and may even show evidence of left ventricular strain. The echocardiogram is the most important non-invasive test to detect and evaluate aortic valve stenosis.

The echocardiogram accurately documents that the obstruction is present at the valve level, and Doppler studies are used to estimate the degree of valve obstruction.

The echocardiogram is also important in excluding other problems which may be associated with aortic stenosis, such as left ventricular failure, coarctation of the aorta, ventricular septal defect or mitral valve stenosis.

Your physician may also obtain an exercise stress test if your child has aortic stenosis. The exercise stress test provides information regarding the impact of aortic stenosis on the function of the heart during real-world conditions for children (as opposed to merely studying it at rest).

During exercise patients with important degrees of aortic stenosis may show abnormal blood pressure responses or electrocardiogram changes. These findings may help your physician to determine that therapy is indicated; conversely, absence of such changes may help your physician be assured that treatment is not yet necessary.

Cardiac catheterization is an invasive technique that enables physicians to accurately quantify the degree of aortic stenosis that is present. During cardiac catheterization, pressure measurements are made above and below the valve to measure the amount of obstruction, and motion pictures are taken to visualize the degree of valve obstruction that may be present.

During the past 15 years, echocardiography has replaced cardiac catheterization in many instances for the detection and measurement of aortic stenosis.

Nevertheless, from time to time it may be necessary to perform a cardiac catheterization to supplement the information obtained by echo studies with more invasive data. Cardiac catheterization is also often combined with a balloon dilation procedure, described below.

What treatments are commonly used?

Children with mild aortic stenosis rarely require treatment.

However, it is important to note that aortic stenosis may be progressive, and that children with mild disease may eventually require treatment later in life.

It is also important to understand that all treatment for aortic valve stenosis is palliative (that is, it does not return the valve to a normal condition). Therefore, before and after successful treatment it is important that all children with aortic stenosis be followed carefully by a qualified cardiologist.

The type of treatment required depends on the type of valve abnormality present. Most commonly, the stenotic aortic valve is of normal size, is bicuspid (that is, two leaflets instead of three), and has a variable degree of commissural fusion along the lines of leaflet opening. This "typical" form of aortic valvar stenosis responds very nicely to balloon dilation procedures.

Balloon dilation valvuloplasty is performed at the time of cardiac catheterization and does not require open-heart surgery.

In the newborn, it can be performed through the umbilical artery, thus sparing the use of a small infant's femoral arteries.

More typically in older children the procedure is performed through a femoral artery. Patients are often observed in the hospital overnight, but balloon valvuloplasty can be done as an outpatient procedure in some children.

Surgical valvotomy is an open-heart procedure during which the surgeon opens the valve along the lines of commissural fusion; in many centers this open-heart procedure has been replaced by the less invasive balloon dilation valvuloplasty technique.

Open-heart surgical procedures are required for more complex valves, where simple balloon dilation does not suffice. These valves may be obstructed by severe calcium deposits in their leaflets, or because the valve ring itself is small and underdeveloped. For these conditions surgical aortic valve replacement will be necessary.

The Ross Procedure is an aortic valve replacement option which may be particularly advantageous for young children in that the replaced aortic valve retains growth potential and it does not require the use of Coumadin anticoagulation therapy.

In the Ross Procedure, the patient's own pulmonary valve is transplanted to the aortic valve position and the pulmonary valve is replaced with a homograft (human donor valve) from the right ventricle to pulmonary artery. The early to mid-term experience with the Ross Procedure in children has been outstanding.

A more traditional aortic valve replacement procedure involves the implantation of a mechanical prosthesis in the aortic valve position. Anticoagulation therapy is required with any mechanical valve substitute. When the aortic valve is undersized (also known as a hypoplastic valve annulus or ring), more radical surgical techniques are required.

The Konno procedure is a technique which enlarges the aortic valve ring with an incision into the wall between the two ventricles. The enlarged valve annulus can then accept a more normal size prosthetic aortic valve or pulmonary valve autotransplant as in the Ross-Konno procedure.

What are the results of treatment?

Results of balloon dilation valvuloplasty have been excellent. This technique was developed in the mid 1980's, and a moderate degree of experience has been gained in most large centers. The technique decreases the degree of aortic valve obstruction from severe to mild in a large majority of patients.

Children who do not experience excellent relief of obstruction with a technically adequate balloon dilation procedure usually will have more complex disease, such as calcified valve leaflets or a small valve ring.

Balloon dilation valvuloplasty does cause valve insufficiency (or leakage), but this is mild in the majority of patients. In approximately 3 percent to 5 percent of the patients the balloon procedure will create severe aortic valve insufficiency which may require surgical intervention (although rarely emergently).

Long-term follow-up studies of balloon dilation valvuloplasty show that excellent relief of obstruction persists for several years.

However, like surgical valvotomy in the past, recurrent valve obstruction does occur in many children during the next 5-10 years, perhaps related to patient growth and chronic valve changes. Many of these children will require repeat repeat balloon dilation or surgical valve replacement procedures.

The outcomes of open-heart surgical procedures for severe aortic valvar stenosis have been excellent. The mortality risk for surgical valve replacement, either prosthetic valve or the Ross Procedure, is less than 3 percent in experienced centers. These procedures effectively relieve all aortic stenosis and insufficiency with low complication rates.

When valve replacements occur in young children, the long-term concern is that the child will outgrow the size of the artificial valve and will require a repeat surgical valve replacement in later years.

When adult-sized artificial aortic valves are implanted in large children and adolescents, they are expected to last 20 years or more with excellent function.

The Ross Procedure raises several unique issues which require evaluation as children grow. The patient's native pulmonary valve is implanted in the aortic valve position, and may dilate and eventually experience some degree of valve insufficiency over time. In addition, a conduit is placed between the right ventricle and pulmonary artery (to replace the native pulmonary valve).

Tricuspid Atresia

2007-02-28T14:56:00.000Z

Tricuspid Atresia

What is Tricuspid Atresia?

Tricuspid atresia is a type of congenital heart disease in which the valve between the right atrium and right ventricle fails to develop.

Blood that returns from the body to the right atrium cannot directly enter the right ventricle, and must pass through a hole in the atrial septum (atrial septal defect) into the left atrium and then the left ventricle.

There are several anatomic variations that influence the symptoms and course of treatment in any given patient. There may be a hole in the ventricular septum, called a ventricular septal defect (VSD).

The aorta and pulmonary artery may be normally positioned and aligned with the appropriate ventricle (as shown in illustration), or they may be reversed, a condition called transposition of the great arteries.

If there is no ventricular septal defect or only a small one, and the great arteries are normally positioned, blood flows from the left ventricle out the aorta to the body. In this situation very little, if any, blood can get to the lungs resulting in very low oxygen levels in the infant.

In a newborn baby, blood can reach the lungs to pick up oxygen as long as a connection between the aorta and pulmonary artery called the ductus arteriosus remains open.

The "ductus" is an important vessel while the baby is still in the womb because it allows the blood from the baby’s heart to return to the placenta, which does the job of the lungs before birth. This vessel is exquisitely sensitive to oxygen; when the baby is born, it typically narrows down (or closes completely) after 24 to 48 hours in response to the oxygen levels in the air breathed by the child. A medication called prostaglandin (because it was originally derived from the prostate gland) can keep this important vessel open after birth.

If there is a ventricular septal defect and normally related great arteries, blood from the left ventricle can reach the lungs through the ventricular septal defect. This channel is often very narrow, and the right ventricle very underdeveloped, so a less than normal amount of blood goes to the lungs.

Finally, if there is transposition of the great arteries, blood reaches the lungs easily because the pulmonary artery is directly connected to the left ventricle. Blood can only reach the body through the ductus arteriosus or the ventricular septal defect if there is one.

Patent Ductus Arteriosus (PDA)

2007-02-28T14:46:00.000Z

Patent Ductus Arteriosus (PDA)

What is a Patent Ductus Arteriosus?
A patent ductus arteriosus (PDA) is present in all babies before birth. The ductus arteriosus is a patent vessel that courses between the aorta and the pulmonary artery. "Patent" means open.

Before birth, the baby's lungs are not used because it gets its oxygen from the mother across the placenta. The ductus arteriosus is part of the fetal pathway that helps to distribute oxygen from the mother to the baby's organs and allows blood flow to avoid the lungs, which do not need high blood flow at that time.

When the baby is born, the lungs expand, their blood vessels relax to accept more flow, and the ductus arteriosus usually closes on its own within the first hours or days of life.

On occasion, however, the ductus arteriosus does not close on its own, and this is referred to as a patent (open) ductus arteriosus. While this condition is much more often seen in premature babies, it may also occur in term infants.

Patent ductus arteriosus signs and symptoms
The symptoms of a patent ductus arteriosus depend on the size of the ductus and how much blood flow it carries. After birth, the pressures and resistance are much tighter is the aorta than the pulmonary artery, so if a ductus arteriosis is present, blood will flow from the aorta into the pulmonary artery. This extra blood flow into the lungs can overload the lungs and put an additional burden on the heart to pump this extra blood.

This situation may not be well tolerated in a premature baby who already has problems related to immaturity of the lungs themselves. These babies may need more support from the ventilator and have symptoms of congestive heart failure.

A newborn with a patent ductus arteriosus, may have fast breathing, an increase in the work of breathing, more frequent respiratory infections, tiring more easily, or poor growth.

However, if the patent ductus arteriosus is not large, it may cause absolutely no symptoms at all and may be detected only upon further evaluation of a heart murmur.

Even in the absence of symptoms, the turbulent flow of blood through the patent ductus arteriosus puts a person at a higher risk for a serious infection known as endocarditis.

Diagnosing a patent ductus arteriosus

Because of turbulent blood flow from the high pressure aorta to the low pressure pulmonary artery, a patent ductus arteriosus causes a characteristic heart murmur that is heard on physical exam.

The presence of the characteristic murmur along with symptoms of heart failure in a premature infant most frequently leads to the diagnosis of patent ductus arteriosus. The chest X-ray will show an enlarged heart and evidence of an excessive amount of blood flow to the lungs. An echocardiogram is performed to confirm the diagnosis. This will demonstrate the size of the ductus arteriousus and will demonstrate if the heart chambers have become enlarged due to the extra blood flow.

In older children, though, the chest X-ray is typically normal. An Echocardiogram will demonstrate the flow of blood through the patent ductus arteriosus and will typically be performed to confirm the diagnosis.

Patent ductus arteriosus treatment

In a newborn, the patent ductus arteriosus still has the potential to close on its own without intervention. Thus, in newborns, additional time may be allowed for the patent ductus arteriosus to close on its own if the heart failure can be easily managed. If symptoms are severe, such as in a premature infant, or if it is felt unlikely to close on its own, however, medical or surgical closure is pursued.

If a patent ductus arteriosus is still present beyond the newborn period, it will generally never close on its own. Closure is recommended in such cases to prevent the future risk of endocarditis.

In newborns, a medication such as indomethacin or ibuprofen can be given. These medications are given in the stomach and can constrict the muscle in the wall of the patent ductus arteriosus and promote closure. These drugs do have side effects, however, such as kidney injury or bleeding, so not all babies can receive them. Because of the potential side effects, the baby must have lab values checked before medications can be given. If the lab values are not normal or if the medications do not work, surgery can be performed and the patent ductus arteriosus tied off (ligated).

Medications are generally only successful in newborn patients. In older infants and children, options for closure include surgery or closure in the cardiac catheterization laboratory with a device or coil.

During the cardiac catheterization procedure, the patient is sedated and catheters are placed into blood vessels in the groin. The catheters are then fed to the heart and pictures are taken of the ductus arteriosus with dye (called an angiogram). Two methods can be used to close the ductus. If it is small, a coil may be placed within the vessel which will expand to block the blood flow. If the ductus is larger, a flexible device can be placed within the ductus as a "plug".

The ductus arteriosus may also be closed with surgery,. For surgery, a small incision is made between the ribs on the left side and the ductus arteriosus is tied (ligated) and cut. Surgical closure of the patent ductus arteriosus can be performed at any age, and is specifically recommended in some situations such as a very large patent ductus arteriosus or other unusual anatomy.

The risk of complications with any of these treatments is low, determined mostly by how ill the child is prior to treatment.

Can a patent ductus arteriosus ever be a GOOD thing?

Yes. Some babies have heart defects that require the patent ductus arteriosus to remain open for them to survive.

In some heart defects, such as pulmonary atresia (an underdeveloped or blocked pulmonary valve), the patent ductus arteriosus supplies the only adequate source of blood flow to the lungs so that oxygen can be delivered to the blood. In these patients, the ductus arteriosus supplies blood to the lungs from the aorta.

In other anomalies, such as underdeveloped or severely narrowed aorta (like that seen in hypoplastic left heart syndrome), the patent ductus arteriosus is crucial to allow adequate blood flow to the body. In these patents, the ductus arteriosus supplies blood to the body from the pulmonary artery.

This medication is given intravenously (IV) and requires the baby to be closely monitored in the intensive care unit. Keeping the patent ductus arteriosus open using this medication allows stabilization of the newborn until more definitive treatment, usually surgical, can be carried out.

Infective Endocarditis

2007-02-28T14:41:00.000Z

Infective Endocarditis

Infective endocarditis is an infection of the lining of the heart's chambers (called the endocardium) or the heart's valves. If left untreated, endocarditis can cause other complications, such as a blood clot (embolism), an irregular heartbeat (arrhythmia), valve damage or destruction, and, in time, congestive heart failure (CHF).

What causes infective endocarditis?

The infection that leads to endocarditis can be caused by bacteria, fungi, or other microorganisms that enter your bloodstream. (You may have heard the term bacterial endocarditis, subacute bacterial endocarditis, or SBE. These terms are used for endocarditis caused only by bacteria—usually group A strep—and not by other microorganisms.)

Normally, microorganisms live on your skin, in your mouth, in your intestines, and in your urinary tract, but not in your blood. Sometimes, however, microorganisms can enter your bloodstream (for example, during a surgical or dental procedure).

For most people, microorganisms in the bloodstream do not pose a problem. But if one of your heart valves becomes damaged, your body sends immune cells, platelets, and fibrin (a clotting material) to heal the valve. This healing process can lead to endocarditis if any microorganisms in your bloodstream become trapped under the layers of these cells. The trapping of microorganisms leads to the development of "clumps" of tissue within the heart and on the heart's valves. These clumps are called vegetations.

Vegetations are dangerous because they can break off and enter the bloodstream. This process is called embolization. If the embolus (the clump that breaks off) is large enough, it can block a blood vessel. This blockage can slow the flow of oxygen-rich blood to parts of your body.

Who is at risk for developing infective endocarditis?

You are more likely to get endocarditis if you already have other heart problems or you have heart valve damage. Endocarditis is more common in people older than 50, and men are affected more often than women.

Your risk for developing endocarditis is increased if

You have valve disease.
You have had a heart valve replaced.
You have a congenital heart defect (a heart defect that you were born with).
You had rheumatic fever or rheumatic heart disease as a child, which scarred your heart valves.
You have hypertrophic cardiomyopathy (enlarged or thickened heart walls).
You are an intravenous drug user.
What are the symptoms?

If you have acute endocarditis, meaning the infection has happened recently, you may feel like you have the flu, with a fever, night sweats, muscle aches and pains, and decreased energy.

If you have chronic endocarditis, which may last for months, you may feel feverish and chilled, be very tired, lose weight, and have joint pain, night sweats, or the symptoms of heart failure.

Other symptoms may include red spots on the palms of your hands and the soles of your feet (called Janeway lesions), or red, painful sores on the tips of your fingers and toes (called Osler's nodes).

How is infective endocarditis diagnosed?

Most doctors will suspect infective endocarditis if you tell them your symptoms and if you have a history of congenital heart disease, rheumatic fever, or valve disease. Doctors may also look for small, dark lines under your fingernails that look like wood splinters (called splinter hemorrhages) or burst blood vessels in the retina of your eyes (called Roth's spots).

With a stethoscope, a doctor can listen to your chest for the distinct sound of a new heart murmur or a change in the sound of an old heart murmur. Heart murmurs are caused by the sound of faulty heart valves and by certain defects in your heart.

Blood samples from different areas of your body can tell doctors if you have microorganisms in your bloodstream. The samples are placed on what is called a culture, where the organism can grow so that it can be analyzed and identified.

Echocardiography can be used to see valve structure and function, heart wall motion, and overall heart size. This is by far the most reliable way to diagnose infective endocarditis.

Other imaging techniques such as transesophageal echocardiography (TEE), computed tomography (CT) scanning, and magnetic resonance imaging (MRI) may be used for a more complete diagnosis or to find out if you have other complications.

How is infective endocarditis treated?

Medicines called antibiotics, which kill the microorganisms, are the first line of treatment for infective endocarditis. If vegetations have damaged your heart valves, you may need surgery.

Lifestyle Changes

Doctors used to give anyone with a heart murmur antibiotics before a dental or surgical procedure. (Such procedures may cause bacteria to enter the bloodstream.) Today, most doctors believe that only patients who have had a heart valve replaced, those who have had endocarditis, and those with congenital heart defects, documented valve disease (such as mitral valve prolapse), or hypertrophic cardiomyopathy need to take antibiotics before a dental or surgical procedure. If you are unsure about whether you should take antibiotics before a procedure, talk to your doctor or dentist.

Medicines

Antibiotics are used to kill the microorganisms in your bloodstream and within the vegetations in your heart. The antibiotics you will be given depend on what kind of microorganism has caused your infection. At first, you will need to stay in the hospital, because these strong medicines need to be given through a needle in a vein (intravenously). You will have regular blood tests to see if the medicine is working, and you may need to take these antibiotics for up to 6 weeks.

Surgical Procedures

In some patients, endocarditis can totally damage a heart valve. In these cases, your doctor may recommend surgery to repair or replace the damaged valve.

2007-02-28T14:06:00.000Z

What is Double Outlet Right Ventricle (DORV) ?

Some of the defects I have described are "simple", some are a little "complex" - but DORV is something else. It is a common term that actually describes a wide spectrum of heart disease, ranging from something similar to a Ventricular Septal Defect (VSD), through Tetralogy of Fallot (ToF) to Transposition of the Great Arteries (TGA). It is sometimes like one, at other times like another, and occassionally a mixture of some of them.
So if at first you are baffled, don't worry. I too was, and figured it out only after a long hard struggle.

What is Double Outlet Right Ventricle ?

Normally, a ventricle has just ONE outlet. For the left ventricle, this is the aorta. For the right ventricle it is the pulmonary artery. In DORV, both of these "outlet" blood vessels - aorta and pulmonary artery - arise from the RIGHT VENTRICLE, either totally or to a great extent.

That sounds simple. What's so complex about that ?

Well, the complexity lies in the extreme variability of the position of the outlet vessels in relation to each other, and the presence of additional defects. These include VSD, narrowing of the pulmonary valve (Pulmonary Stenosis), abnormal attachments of the mitral or tricuspid valves and abnormalities in the structure of the ventricles themselves.
The number of combinations possible are simply mind boggling. I will try and explain how exactly this affects the outcome, and decision about surgical repair.

What happens in DORV ?

Most cases of DORV have a VSD. DORV is classified based on the relationship between the VSD and the blood vessels. If the VSD is right under the aorta, it is called DORV with Sub-Aortic VSD. If it lies under the pulmonary artery, it becomes DORV with Sub-Pulmonary VSD - also called the TAUSSIG-BING anomaly. If the VSD is under both the arteries, it is called DORV with Doubly Committed VSD. And sometimes, the VSD is remote from the arteries, and is known as DORV with Non-Committed VSD.
This has a bearing on how the child with DORV behaves. When the VSD is right under the aorta, the features are like that of a simple VSD. This means that the child is likely to get frequent chest colds, and become breathless on exertion.
When in addition to this, there is narrowing of the pulmonary valve (Pulmonary Stenosis), the course is similar to Tetralogy of Fallot (ToF). There is a "blue" discoloration - cyanosis. Paradoxical embolism, squatting, and easy fatigue on exercise may be seen.
If the VSD is sub-pulmonary, the features are just like those of Transposition of Great Arteries (TGA). Cyanosis, giddiness, fainting, and chest infections may occur.
When the VSD is doubly committed or non committed, clinical features are variable. In either instance, the presence of pulmonary stenosis modifies the picture.
What factors affect treatment of DORV ?

In addition to the location of the VSD, other factors also affect surgical decision making.

What is the distance between the aorta and the tricuspid valve ?

Surgical repair of DORV involves connecting the left ventricle to the aorta, while leaving the right ventricle attached to the pulmonary artery. To do this, the surgeon must create a tunnel from the VSD to the aorta. Blood from the left ventricle will then pass across the VSD into the tunnel, and finally into the aorta. This is called the Intra-Ventricular Tunnel operation.
There are however certain limitations to this operation. The tunnel will pass through the right ventricle cavity, between the tricuspid and pulmonary valves. If these two valves are placed very close together, it will not be possible to create a tunnel of an adequate size without blocking one or the other of these valves.
The surgeon and cardiologist always decide before operation by tests including echocardiography about whether this distance is adequate for an intraventricular tunnel operation. If not, other alternatives must be sought.

What is the size of the VSD ?

The VSD will be a part of the tunnel leading out of the left ventricle. So it must be large enough to permit blood flow without obstruction. A small VSD may need to be enlarged at the time of surgery.

Are there any abnormal attachments of the mitral or tricuspid valves ?

The mitral and tricuspid valves are themselves marvels of structural design. They have leaflets supported by struts - called "chordae tendineae" - attached to muscles called "papillary muscles". Together this unique system keeps blood flow directed one-way in the normal heart.
Sometimes in DORV, either of these valves may be abnormal. Instead of connecting with one ventricle, they may over-ride the wall (septum) between the two ventricles. At times, even the supporting structures - the chordae and papillary muscles - will cross the ventricular septum. This condition is called "straddling".
Both of these situations are of importance to the surgeon. During the operation, if these structures are injured or divided, the valve cannot work well, and will become leaky - valve regurgitation. It is also of great importance to detect valves that are leaky before surgery, since the choice of operation will vary.

What is the size of the ventricles ?

The reason for requesting this information is to decide if, after repair, the left ventricle will be able to sustain the future workload of supplying blood to the entire body. Usually, both ventricles are moderately developed, with the left being much smaller than the right. Sometimes, the left ventricle may be very small, and then DORV becomes a form of the "Single Ventricle" anomaly.

Is there any other obstruction in the "outlet" arteries ?

Sometimes other abnormalities like coarctation of the aorta or pulmonary artery stenosis may coexist. If not detected at or before surgery, they can contribute to a poor outcome. These co-existing anomalies need to be repaired too at the time of surgery.
The feasibility of surgery is never decided on the basis of just one factor, but is based on a comprehensive evaluation by various tests, including sometimes a catheterization study.

What are the surgical options for DORV ?

There are two basic types of repair for DORV

ANATOMIC repair, which restores a circulation with two ventricles
UNIVENTRICULAR repair, in which only one ventricle is functional. I will explain this situation in the section on Fontan operation for Tricuspid Atresia.
When can an anatomic repair be performed ?

The only criterion for suitability for an anatomic repair is the presence of two well-developed ventricles that will be capable of tolerating the workload after repair. It requires fine judgement after thorough investigation to make this decision.

What are the types of anatomic repair ?
There are three techniques of anatomic repair

Intra-Ventricular Repair
This operation has been described earlier. A tunnel is created between the VSD and aorta, directing blood from the left ventricle across the VSD into the aorta. The major requirement for this is an adequate distance between the tricuspid and pulmonary valves. If this distance is very small, one of the other alternative must be employed.
"REV" or Lecompte Operation
In this operation, a tunnel is created in the same way as in the intra-ventricular repair. But the tunnel may block the pulmonary valve. So continuity is achieved by directly sewing the pulmonary artery to the right ventricle, bypassing the blocked pulmonary valve.
Arterial Switch with Tunnel Procedure
Here a tunnel is created inside the right ventricle, between the VSD and the Pulmonary Valve. Following this, an arterial switch operation (see the section on TGA for further details) is performed to restore normal circulation.

What are the difficulties in creating a tunnel ?
The surgeon aims to create a non-obstructive passage between the left ventricle and aorta. There may be hurdles at different levels.

VSD size - If the VSD is very small, it may need to be enlarged at the time of surgery.
Abnormal attachments of chordae tendineae - When the tricuspid valve chordae run across the path of the tunnel, it may be possible to divide them and re-attach them to the wall of the tunnel. If the mitral valve chordae are abnormal, an anatomic repair is better avoided because of the risk of mitral valve leak if the supporting tissue is damaged.
Narrowing of the valves or great arteries - This may need to be relieved at the time of repair.
In summary then, a simple way to decide upon the choice of repair would be

NORMAL tricuspid valve to pulmonary valve distance with
a. Normal pulmonary valve - Intra-Ventricular Repair
b. Narrow pulmonary valve - Intra-Ventricular Repair with Pulmonary Valve Enlargement
DECREASED tricuspid valve to pulmonary valve distance with
a. Normal pulmonary valve - Arterial Switch with Tunnel to Pulmonary Artery
b. Narrow pulmonary valve - REV operation
What is the best age to repair DORV ?

Since DORV is not a single entity, the best age for repair depends on the type of DORV. When there is no pulmonary stenosis, DORV with subaortic or subpulmonary VSD can be repaired electively at 6 months of age. For DORV with non-committed VSD, later repair at 3 to 5 years age is advisable.
When pulmonary stenosis is present, DORV with subaortic VSD is treated exactly as Tetralogy of Fallot. DORV with subpulmonary or non-committed VSD is electively repaired at 3 to 5 years age.
However, none of these suggestions are absolute ones. Decision making in individual cases depends on the specific nature of each patient.

Cardiomyopathies

2007-02-28T09:21:00.000Z

Cardiomyopathies

What is a cardiomyopathy?

Cardiomyopathies are diseases of the heart muscle, also known as the myocardium, in which the actual muscle cells and surrounding tissues are sick.

Cardiomyopathies can be primary, meaning the sickness predominantly involves the heart. They can also be secondary, meaning the sickness is a result of another disease or toxin and may also affect many organ systems within the body, including the heart. Patients with cardiomyopathy will most commonly have a heart with normal anatomy.

Cardiologists classify cardiomyopathy into three categories:

Dilated cardiomyopathy (DCM): It is also known as congestive cardiomyopathy. Dilated cardiomyopathy is most notable for an enlarged heart that contracts poorly.
Hypertrophic cardiomyopathy (HCM): Hypertrophic cardiomyopathy is most notable for thickening of the heart muscle. Some physicians will refer to this class of cardiomyopathy as idiopathic hypertrophic subaortic stenosis (IHSS).

Hypertrophy, or thickening, particularly of the left ventricle, can result in problems with obstruction to forward flow and problems with relaxation of the left ventricle, and can thereby affect the ability of the heart to fill. Children with hypertrophic cardiomyopathy are also at increased risk for arrhythmias.
Restrictive cardiomyopathy (RCM): Restrictive cardiomyopathy is most notable for abnormal relaxation of the ventricles and well preserved pumping function. As a result, the upper chambers of the heart, the atria, become enlarged while the lower pumping chambers, the ventricles, remain normal in size. This is a rare form of cardiomyopathy in children.

What are the causes of cardiomyopathy?

The cause of most cases of cardiomyopathy is unknown. A common cause is a viral infection of the heart, or myocarditis, which weakens the heart muscle.

Hypertrophic cardiomyopathy can run in families and genetic causes have been identified.

There are several metabolic disorders as well as congenital muscle disorders that can lead to dilated cardiomyopathy. A persistent rhythm abnormality can lead to weakening of the heart.

Problems of the coronary arteries, either congenital or acquired, can eventually lead to cardiomyopathy. Although there is a long list of possible causes of cardiomyopathy, few of them are directly treatable and most therapy is aimed at treating the secondary effects on the heart.

What are the signs and symptoms of cardiomyopathy?

Dilated cardiomyopathy presents with signs and symptoms of congestive heart failure (CHF). Infants with this disease may demonstrate fast and heavy breathing with feedings, sweating with feedings, lethargy or inactivity, or poor weight gain. Older children may have difficulty with exercise, difficulty with breathing, abnormal heart beats, dizziness or weight loss.

Hypertrophic cardiomyopathy presents in a variety of ways. Infants can present with signs of congestive heart failure as noted above.

Older children can demonstrate exercise intolerance, chest pain with exercise, palpitations, dizziness or passing out.

Some children have no symptoms and are first brought to attention by the presence of a murmur, usually due to the obstruction to flow out of the ventricle or leaking of one of the valves of the heart. Often, the murmur is absent until they reach their teenage years, with such children remaining asymptomatic.

Restrictive cardiomyopathy is notable for increased work of breathing, often associated with a respiratory illness such as colds, bronchiolitis, and pneumonia.

Other symptoms can include fatigue, dizziness and fainting. The patient may have an enlarged abdomen due to high pressure on the right side of the heart which causes a large liver and fluid buildup in the abdomen.

What kind of diagnostic evaluation is needed for cardiomyopathy?
In all patients with a suspicion of cardiomyopathy, the history and physical examination is of primary importance to make the diagnosis. Signs and symptoms of congestive heart failure, such as fast breathing and fast heart rate, abnormal lung and heart sounds, and an enlarged liver can help the physician make the correct diagnosis.

A murmur and abnormal chest wall impulses can be seen in hypertrophic cardiomyopathy , but their absence does not rule out the diagnosis. It is recommended that siblings of patients with hypertrophic cardiomyopathy undergo a cardiac consultation even if they have no signs or symptoms.

A chest X-ray is usually performed which will typically show an enlarged heart and extra fluid in the lungs (also referred to as pulmonary edema.)

An electrocardiogram (EKG) to evaluate the amount of enlargement as well as the rhythm of the heart is often performed during the initial evaluation.

An echocardiogram of the heart will give a definitive diagnosis as to the type of cardiomyopathy and the degree of dysfunction of the heart muscle.

Patients with both acute and chronic cardiomyopathy may undergo repeated echocardiograms as the cardiologist attempts to assess the progress of the disease.

A cardiac catheterization may also be performed, not only to evaluate the pressures within each chamber of the heart, but also to evaluate the coronary arteries as malformations of these arteries can be a cause of cardiomyopathy.

Sometimes small pieces of heart muscle are also taken during the cardiac catheterization for laboratory study. Such heart muscle biopsies are helpful in the evaluation of possible infections of the heart, as well as certain metabolic abnormalities of the heart.

What is the treatment for cardiomyopathy?

Treatment of patients with dilated cardiomyopathy may best be divided into immediate and long-term. If the patient is critically ill, initial treatment may require lifesaving measures such as placement of a breathing tube and use of a mechanical ventilator.

Acutely ill patients may require intravenous fluids and medications to improve blood pressure and heart function. The very sickest of patients may require placement on an artificial heart-lung machine called ECMO.

Diuretics are medications designed to remove excess fluid from the body. Blood thinners are used when clots develop within the poorly functioning heart chambers. Rhythm problems may develop from the dilated heart and medications to treat these abnormalities may be necessary.

Once the patient is more stable, long term therapy can involve a number of medications. Medications such as captopril and enalapril relax the arteries in the body, decreasing the blood pressure and consequently, the amount of work the heart has to perform to pump blood to the rest of the body.

Common diuretics, like Lasix and Aldactone, are used to reduce the excess fluid in the lungs. Digoxin is an oral medication that improves the pumping function of the heart, as well as helping to prevent certain types of arrhythmias.

Research in adults has indicated that the use of a group of blood pressure medications called beta-blockers (propranolol, atenolol) has some long-term benefit and these are sometimes used in children.

Patients with hypertrophic cardiomyopathy may initially have a lot of difficulty with arrhythmias. Patients may require antiarrhythmic medications or even electrical shock to stop these abnormal rhythms. These patients may require some of the same life saving treatments mentioned above.

In patients who have either had a life-threatening arrhythmia, which can arise from the thickened ventricle, or with risk factors for such arrhythmias, surgically placed devices can "shock" a patient immediately at the time of a life threatening event.

Such devices are called ICDs (internal cardioverter / defibrillator). The more chronic treatment options for hypertrophic cardiomyopathy address both the problems of arrhythmia and obstruction to flow by the thickened heart muscle.

Treatment for outflow obstruction can include medications such as propranolol and verapamil, designed to slow the heart rate and "relax" the heart, thereby decreasing the obstruction. Diuretics and digoxin are not usually used in this type of cardiomyopathy as it can worsen the obstruction of blood flow out of the heart.

There is some controversy as to whether surgically removing some of the thickened muscle is of any benefit. Sometimes surgery on the mitral valve, if it is involved in the obstruction, is performed, although this too is controversial.

Patients with restrictive cardiomyopathy are at high risk for blood clots within the heart, particularly the enlarged upper chambers, therefore blood thinners such as heparin, coumadin or Lovenox may be necessary. Gentle use of diuretics can also be helpful in some patients.

What is the long-term prognosis of patients with cardiomyopathy?

Dilated cardiomyopathy is a serious disease. However, like most diseases, dilated cardiomyopathy occurs with a spectrum of severity and outcome.

Depending on the cause and the degree of irreversible damage to the heart muscle following the acute illness, about one-third of patients have persistent very poor heart function, one-third improve but are left with some heart dysfunction, and one-third recover completely.

It is difficult to predict which category an individual patient will fall, therefore frequent cardiology follow-up is extremely important. Patients who do have irreversible damage and persistent poor function may go on to require a heart transplant.

The exact number of patients with hypertrophic cardiomyopathy is unknown, as some patients have no symptoms. The chance of premature death is estimated to be less than 1 percent.

Risk factors for sudden death include episodes of passing out, young age at presentation, family history of sudden death, marked heart thickening on echocardiogram and fast heart rhythms seen on monitoring.

In less than 5 percent of patients, late complications can include enlargement of the left ventricle and decreased pumping function.

As restrictive cardiomyopathy accounts for only 5 percent of patients with cardiomyopathy, the total number of patients with this disease is small and the overall outcome data is limited. Unfortunately, the available information indicates that prognosis is generally poor.

Only 45 to 50 percent of patients with this type of cardiomyopathy are estimated to survive two years after the diagnosis. Some patients may also require heart or heart lung transplantation.

However, the severity of these diseases can vary greatly and each child should be evaluated and treated on an individual basis.

Tetralogy of Fallot (TOF)

2007-02-28T09:18:00.000Z

What is tetralogy of Fallot?

Tetralogy of Fallot (TOF)

Tetralogy of Fallot (TOF) is a cardiac anomaly that refers to a combination of four related heart defects that commonly occur together. The four defects include:

Pulmonary stenosis (narrowing of the pulmonary valve and outflow tract or area below the valve, that creates an obstruction (blockage) of blood flow from the right ventricle to the pulmonary artery
Ventricular septal defect (VSD)
Overriding aorta (the aortic valve is enlarged and appears to arise from both the left and right ventricles instead of the left ventricle as occurs in normal hearts)
Right ventricular hypertrophy (thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping at high pressure)
A small percentage of children with tetralogy of Fallot may also have additional ventricular septal defects, an atrial septal defect (ASD) or abnormalities in the branching pattern of their coronary arteries. Some patients with tetralogy of Fallot have complete obstruction to flow from the right ventricle, or pulmonary atresia. Tetralogy of Fallot may be associated with chromosomal abnormalities, such as 22q11 deletion syndrome.
The pulmonary stenosis and right ventricular outflow tract obstruction seen with tetralogy of Fallot usually limits blood flow to the lungs.

When blood flow to the lungs is restricted, the combination of the ventricular septal defect and overriding aorta allows oxygen-poor blood ("blue") returning to the right atrium and right ventricle to be pumped out the aorta to the body.

This "shunting" of oxygen-poor blood from the right ventricle to the body results in a reduction in the arterial oxygen saturation so that babies appear cyanotic, or blue. The cyanosis occurs because oxygen-poor blood is darker and has a blue color, so that the lips and skin appear blue.

The extent of cyanosis is dependent on the amount of narrowing of the pulmonary valve and right ventricular outflow tract. A narrower outflow tract from the right ventricle is more restrictive to blood flow to the lungs, which in turn lowers the arterial oxygen level since more oxygen-poor blood is shunted from the right ventricle to the aorta.

Tetralogy of Fallot signs and symptoms

Tetralogy of Fallot is most often diagnosed in the first few weeks of life due to either a loud murmur or cyanosis. Babies with tetralogy of Fallot usually have a patent ductus arteriosus at birth that provides additional pulmonary blood flow, so severe cyanosis is rare early after birth.

As the ductus arteriosus closes, as it typically will in the first days of life, cyanosis can develop or become more severe.

The degree of cyanosis is proportional to lung blood flow and thus depends upon the degree of narrowing of the outflow tract to the pulmonary arteries.

Rapid breathing in response to low oxygen levels and reduced pulmonary blood flow can occur. The heart murmur, which is commonly loud and harsh, is often absent in the first few days of life.

The arterial oxygen saturation of babies with tetralogy of Fallot can suddenly drop markedly. This phenomenon, called a "tetralogy spell," usually results from a sudden increased constriction of the outflow tract to the lungs so that pulmonary blood flow is further restricted. The lips and skin of babies who have a sudden decrease in arterial oxygen level will appear acutely more blue.

Children having a tetralogy spell will initially become extremely irritable in response to the critically low oxygen levels, and they may become sleepy or unresponsive if the severe cyanosis persists.

A tetralogy spell can sometimes be treated by comforting the infant and flexing the knees forward and upward. Most often, however, immediate medical attention is necessary.

Diagnosing tetralogy of Fallot

When a newborn baby with significant cyanosis is first seen, they are often placed in supplemental oxygen. The increased oxygen improves the child's oxygen levels in cases of lung disease, but breathing extra oxygen will have little effect on the oxygen levels of a child with tetralogy of Fallot.

Failure to respond to this "hyperoxia test" is often the first clue to suspect a cyanotic cardiac defect. Infants with tetralogy of Fallot can have normal oxygen levels if the pulmonary stenosis is mild (referred to as "pink" tetralogy of Fallot). In these children, the first clue to suggest a cardiac defect is detection of a loud murmur when the infant is examined.

Once congenital heart disease is suspected, echocardiography can rapidly and accurately demonstrate the four related defects characteristic of tetralogy of Fallot.

Cardiac catheterization is occasionally required to evaluate the size and distribution of the pulmonary arteries and to clarify the branching patterns of the coronary arteries. Catheterization can also demonstrate whether patients have pulmonary blood flow supplied by an abnormal blood vessel from the aorta (aortopulmonary collateral).

Tetralogy of Fallot treatment

Once tetralogy of Fallot is diagnosed, the immediate management focuses on determining whether the child's oxygen levels are in a safe range.

If oxygen levels are critically low soon after birth, a prostaglandin infusion is usually initiated to keep the ductus arteriosus open which will provide additional pulmonary blood flow and increase the child's oxygen level.

These infants will usually require surgical intervention in the neonatal period. Infants with normal oxygen levels or only mild cyanosis are usually able to go home in the first week of life.

Complete repair is usually done electively when the children are about six months of age, as long as the oxygen levels remain adequate. Progressive or sudden decreases in oxygen saturation may prompt earlier corrective repair.

Surgical correction of the defect is always necessary. Occasionally, patients will require a surgical palliative procedure prior to the final correction.

Corrective repair of tetralogy of Fallot involves closure of the ventricular septal defect with a synthetic Dacron patch so that the blood can flow normally from the left ventricle to the aorta.

The narrowing of the pulmonary valve and right ventricular outflow tract is then augmented (enlarged) by a combination of cutting away (resecting) obstructive muscle tissue in the right ventricle and by enlarging the outflow pathway with a patch.

In some babies, however, the coronary arteries will branch across the right ventricular outflow tract where the patch would normally be placed. In these babies an incision in this area to place the patch would damage the coronary artery so this cannot safely be done.

When this occurs, a hole is made in the front surface of the right ventricle (avoiding the coronary artery) and a conduit (tube) is sewn from the right ventricle to the bifurcation of the pulmonary arteries to provide unobstructed blood flow from the right ventricle to the lungs.

Total Anomalous Pulmonary Venous Return (TAPVR)?

2007-02-28T09:13:00.000Z

What is Total Anomalous Pulmonary Venous Return (TAPVR)?The pulmonary veins are the four blood vessels (two on each side) that return oxygen-rich blood from the lungs to the left atrium of the heart.

Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection.

Total Anomalous Pulmonary Venous Return is classified into different types, based on the location of the abnormal pulmonary vein connection:

A. Supracardiac Total Anomalous Pulmonary Venous Return -- The pulmonary veins drain to the right atrium via the superior vena cava. In this type of TAPRVR, the pulmonary veins come together behind the heart and then drain upwards to an abnormal vertical vein. This vein joins the innominate vein which connects to the right superior vena cava and drains to the right atrium.

B. Cardiac Total Anomalous Pulmonary Venous Return -- The pulmonary veins come together behind the heart and then drain drain to the right atrium through the coronary sinus. The coronary sinus is the vein that normally returns blood from the heart muscle itself back to the right atrium after its oxygen has been depleted. The coronary sinus drain directly into the right atrium.

C. Infracardiac Total Anomalous Pulmonary Venous Return -- The pulmonary veins drain to the right atrium via the hepatic (liver) veins and inferior vena cava. In this type, the pulmonary veins join together behind the heart and then typically drain downwards, connecting to the liver's portal vein system. they then drain through the vascular bed of the liver and enter the right atrium from the hepatic veins.

Common to all types of Total Anomalous Pulmonary Venous Return is an atrial septal defect (ASD). Because none of the pulmonary veins connect normally to the left side of the heart (and thus out to the body) is shunted blood from the right atrium across the atrial septal defect. Absence of an atrial septal defect in Total Anomalous Pulmonary Venous Return is not compatible with survival.

Why Does Total Anomalous Pulmonary Venous Return Cause Problems?Diminished oxygen content of the arterial blood (cyanosis) and an increased volume load on the right ventricle characterize the physiology of Total Anomalous Pulmonary Venous Return.

Because of the abnormal pulmonary vein connection there is complete mixing together of the oxygenated blood returning from the lungs (in pulmonary veins) and the unoxygenated blood returning from the body (in the vena cavae).

The left atrium and left ventricle are filled only by blood shunting across an atrial septal defect (from right atrium to left atrium). Because this blood is a mixture of oxygenated and unoxygenated blood, the overall content in the blood ejected by the left ventricle to the aorta is decreased.

This explains why patients with Total Anomalous Pulmonary Venous Return have low arterial oxygen saturations (i.e. are cyanotic).

If the atrial septal defect is small or restrictive to blood flow from the right atrium, then the volume of blood filling the left atrium and left ventricle may be diminished. This can lead to low cardiac output and shock.

In some cases of Total Anomalous Pulmonary Venous Return, the route of blood from the pulmonary veins back to the heart may have areas of narrowing or obstruction. This obstruction may prevent adequate blood return from the pulmonary veins and may increase the pressure in the veins, leading to congestion in the lungs (pulmonary edema) and pulmonary hypertension. Patients with Obstructed Total Anomalous Pulmonary Venous Return are usually critically ill with severe cyanosis and often have marked hemodynamic instability. Emergent surgical intervention may be necessary in these cases.

Obstructed pulmonary veins most commonly occur in the infracardiac type of Total Anomalous Pulmonary Venous Return, although it can occur with other anatomic types as well.

Signs and symptoms
Patients with Total Anomalous Pulmonary Venous Return and obstructed pulmonary venous return are extremely ill soon after birth. These children are severely cyanotic. They also have respiratory distress, with rapid breathing, grunting and retractions of the rib cage muscles. Often such infants may be initially thought to have pneumonia or other respiratory diseases of the newborn, until an accurate cardiac diagnosis is made.

If obstruction to pulmonary venous return is not present, children with Total Anomalous Pulmonary Venous Return without obstructed pulmonary venous return may be asymptomatic. There may be mild to moderate rapid or labored breathing. There is often cyanosis, but it may be mild and difficult to detect.

Some children with this more common type of Total Anomalous Pulmonary Venous Return are first detected when a physician hears a heart murmur during a physical examination. It is not uncommon for these children to go undiagnosed for weeks to months.

Total Anomalous Pulmonary Venous Return evaluations and diagnosisThe diagnosis of Total Anomalous Pulmonary Venous Return may be initially suspected when a physician hears a typical heart murmur and detects evidence of right ventricular overload.

Measurement of oxygen saturation may detect a low value, typically in the mid-to-high 80s in children without pulmonary vein obstruction. An electrocardiogram will reveal evidence of right atrial and right ventricular enlargement.

A chest X-ray, similarly, will show heart enlargement and will also demonstrate increased pulmonary artery blood flow. In newborns with Total Anomalous Pulmonary Venous Return and obstructed pulmonary venous return, chest x-ray may show evidence of pulmonary edema.

The definitive diagnosis of Total Anomalous Pulmonary Venous Return is usually made by echocardiogram. This study will demonstrate the abnormal connection of the pulmonary veins, in a supracardiac, cardiac or infracardiac pattern.

Echocardiography also demonstrates enlargement of the right atrium and right ventricle and can assess the size of and flow across the atrial septal defect.

On occasion, cardiac catheterization is required to make a definite diagnosis of Total Anomalous Pulmonary Venous Return.

Cardiac catheterization will define the abnormal connection of all pulmonary veins, and is particularly helpful and unusual patterns of mixed Total Anomalous Pulmonary Venous Return (for example when some veins drain in a supracardiac and others in an infracardiac pattern in the same patient).

Cardiac catheterization can also determine accurately whether or not pulmonary veins are obstructed and if the atrial septal defect is restrictive. If so, a balloon dilation procedure can be performed to enlarge the defect, in turn allowing better shunting of blood from right to left atrium.

Total Anomalous Pulmonary Venous Return Treatments
Total anomalous pulmonary venous return is a defect which requires surgical correction. The timing of the surgical repair varies depending on the type of Total Anomalous Pulmonary Venous Return present, and the condition of the child.

Surgical repair is performed emergently in the newborn period for newborns with Total Anomalous Pulmonary Venous Return and obstructed pulmonary veins. This is typical for the infracardiac type. Some of these children will actually require extracorporeal life support (ECMO) prior to surgery because of their marked hemodynamic instability.

Total Anomalous Pulmonary Venous Return without obstruction to pulmonary vein return typically undergo surgical repair electively days or weeks after the diagnosis is made.

In these children, although the surgery is not emergent, there is generally little benefit to be gained by waiting more than one or two months.

Rarely, Total Anomalous Pulmonary Venous Return is complicated by a restrictive atrial septal defect. In these children, a balloon dilation procedure may be performed at cardiac catheterization to improve the child's condition prior to surgical repair.

In virtually all types of Total Anomalous Pulmonary Venous Return, the pulmonary veins return to a common confluence behind the left atrium. The surgical repair takes advantage of this fact. The common pulmonary vein confluence is connected by the surgeon to the back of the left atrium, resulting in a normal connection of pulmonary veins to left atrial chamber.

All other routes for pulmonary venous drainage, such as the abnormal vessels which had carried pulmonary vein blood to the supracardiac or infracardiac areas, are tied off.

Finally, the atrial septal defect is also closed. This surgical repair therefore results in a normal circulation: the pulmonary veins returning normally to the left atrium, without abnormal connections or septal defects.

Mitral Valve Regurgitation

2007-02-28T09:08:00.000Z

What is mitral valve regurgitation (MR)?
The mitral valve is similar to a one-way gate in the left side of your heart. Normally, the valve only allows blood to flow from the upper to lower heart chamber. But if the valve becomes diseased or injured so it cannot close properly, blood can leak backward (regurgitate) into the upper chamber (left atrium). This uncirculated blood causes the heart to work harder to pump the extra regurgitated blood (volume overload).

Mild cases of mitral valve regurgitation cause few problems, but more severe cases eventually weaken the heart and lead to heart failure.

Mitral Valve Stenosis

2007-02-28T09:07:00.000Z

What is mitral valve stenosis?
Mitral valve stenosis is a heart condition in which the mitral valve fails to open as wide as it should. Although it has no immediate effect on health, eventually mitral valve stenosis can cause irregular heartbeats and possibly heart failure or other complications, including stroke, heart infection, pulmonary edema, and blood clots.

Fontan procedure

2007-02-28T09:03:00.000Z

Fontan procedure,
(Francois Maurice Fontan, 20th century, French heart surgeon) operation to divert systemic venous blood flow into the pulmonary artery without passage through the right ventricle. The initial Fontan procedure involved an anastomosis of the right atrial appendage to the pulmonary artery. Several modifications have been devised including direct connection of the superior vena cava to the superior aspect of the right pulmonary artery and construction of a conduit from the inferior vena cava to the undersurface of the right pulmonary artery or into the main pulmonary artery. Construction of the conduit from the inferior vena cava has been done both inside and outside of the right atrium. Frequently, the operation is a staged procedure starting with a superior vena caval right pulmonary arterial connection. The operation is performed for the correction of tricuspid atresia, hypoplastic right heart, hypoplastic left heart syndrome and single ventricle. It is employed in any complex anomaly in which there is only one adequate morphological or functional ventricle.

Chest X-ray after Fontan procedure may demonstrate persistent or recurrent pleural effusions. Cardiac catheterization and pulmonary arteriography are necessary preoperatively in order to exclude pulmonary arterial hypertension and pulmonary arterial stenoses. Such impediments to pulmonary blood flow produce a poor outcome. Cardiac angiography, echocardiography and MRI are used to depict the Fontan connection and to evaluate blood flow through this circuit into the pulmonary arteries. These imaging studies demonstrate severe enlargement of the right atrium and/or inferior vena cava and stasis of blood in this structure in patients with a poor result.

Hypoplastic Left Heart Syndrome / Norwood Operation

2007-02-28T08:58:00.000Z

Hypoplastic Left Heart Syndrome / Norwood Operation
Explanation | Signs and Symptoms | Diagnosis | Treatments | Treatment Results

What is Hypoplastic Left Heart Syndrome?
Hypoplastic Left Heart Syndrome (HLHS) is one of the most complex cardiac defects seen in the newborn and remains probably the most challenging to manage of all congenital heart defects. It is one of a group of cardiac anomalies that can be grouped together under the description "single ventricle" defects.

In a child with Hypoplastic Left Heart Syndrome, all of the structures on the left side of the heart (the side which receives oxygen-rich blood from the lungs and pumps it out to the body) are severely underdeveloped.

The mitral and aortic valves are either completely "atretic" (closed), or they are very small. The left ventricle itself is tiny, and the first part of the aorta is very small, often only a few millimeters in diameter.

This results in a situation where the left side of the heart is completely unable to support the circulation needed by the body's organs, though the right side of the heart (the side that delivers blood to the lungs) is typically normally developed.

Blood returning from the lungs to the left atrium must pass through an atrial septal defect (ASD) to the right side of the heart.

The right ventricle must then do a "double duty" of pumping blood both to the lungs (via the pulmonary artery) and out to the body (via a patent ductus arteriosus (PDA)). The patent ductus arteriosus, a normal structure in the fetus, is often the only pathway through which blood can reach the body from the heart. When the ductus arteriosus begins to close, as it typically does in the first days of life, the blood flow to the body will severely diminish resulting in dangerously low blood flow to vital organs and leading to shock. Without treatment, Hypoplastic Left Heart Syndrome is uniformly fatal, often within the first hours or days of life.

Hypoplastic Left Heart Syndrome signs and symptoms

As mentioned above, infants with Hypoplastic Left Heart Syndrome can develop life-threatening shock when the ducutus arteriosus begins to close. In most cases, however, the ductus arteriosus is widely open at the time of birth, supplying the blood flow to the body and babies may not be diagnosed right away. As the ductus arteriosus closes, which it typically will in most infants in the first hours or days of life, the perfusion to the body is seriously diminished and shock rapidly ensues.

Newborn with Hypoplastic Left Heart Syndrome will typically have lower-than-normal oxygen saturations. This is because all of the blood from the lungs (the oxygenated "red" blood) mix together in the single right ventricle before being pumped out of the lungs and body. Cyanosis, therefore, may be the first clue to the presence of a serious underlying cardiac condition. Respiratory distress (difficult or fast breathing) is often present because the lungs will tend to receive an excessively large amount of blood flow. There is often no or just a faint murmur present in newborns with Hypoplastic Left Heart Syndrome.

The pulses may be very weak in all extremities on examination depending on flow through the ducturs arteriosus. Lethargy, poor feeding, and worsening respiratory distress may be seen as the ducturs arteriosus closes. Ultimately, severe shock resulting in seizures, renal failure, liver failure, and worsening cardiac function may develop. Whether these problems are reversible depends on both the severity and the duration of shock.

How Hypoplastic Left Heart Syndrome is diagnosed

This heart defect is one of the most readily diagnosed on fetal echocardiograms and is one of the most common cardiac defects picked up on screening obstetrical ultrasounds. Such early diagnosis of the anomaly allows for prompt intervention for stabilization at the time of birth so that severe shock may be avoided.

Planning to deliver such an infant at a hospital capable of aggressive newborn resuscitation is important in improving the chances for a good outcome.

Echocardiography is the principal method of diagnosing Hypoplastic Left Heart Syndrome. It can give detailed information of the anatomy of the various cardiac structures affected in Hypoplastic Left Heart Syndrome, as well as important information about the function of the right ventricle and its valves the size of the atrial septal defect (important for blood mixing) and the size of the patent ductus arteriosus.

Cardiac catheterization is almost never needed for newborns with this heart defect as part of the initial evaluation due to the high risks in an often unstable newborn. Catheterization, though, does play an important role in the evaluation of the cardiopulmonary function and anatomy in older children with Hypoplastic Left Heart Syndrome while planning for later stages in the treatment.

Hypoplastic Left Syndrome treatment

The management of the newborn with Hypoplastic Left Heart Syndrome can be divided into the initial stabilization period and the operative / post-operative period.

Even while diagnostic tests may be going on, the rapid stabilization of infants with Hypoplastic Left Heart Syndrome must begin as soon as the diagnosis is suspected.

Catheters are placed, usually in the umbilical blood vessels, which allow medications to be given and blood to be obtained for testing. An infusion of prostaglandin, a medication that prevents the patent ductus arteriosus from closing, is begun, thus maintaining the pathway for blood to reach the body from the right ventricle.

Even though the infant may have low oxygen saturations, supplemental oxygen is avoided since it tends to promote more blood flow to the lungs which may steal blood flow from the body and place excessive demands on the already stressed single right ventricle.

Manipulations of medications and respiratory treatments (including possible mechanical ventilation) are performed to optimally balance the flow of blood to the body and the flow of blood to the lungs.

Close monitoring is essential to detect any organ dysfunction and maintain cardiopulmonary stability because infants with this anomaly may be very unpredictable and undergo quite sudden changes.

There are essentially three treatment options that have been proposed for children with Hypoplastic Left Heart Syndrome.

In the past, due to poor outcomes with available treatments at that time, no treatment was often recommended. Today it is rare that a family may choose not to treat a child with Hypoplastic Left Heart Syndrome, though in cases when the infant is unable to be satisfactorily stabilized no treatment may be advised.

Cardiac transplantation in the newborn period is performed as primary treatment for Hypoplastic Left Heart Syndrome at some centers in this country. While transplantation has the advantage of replacing the very abnormal heart of a child with Hypoplastic Left Heart Syndrome with one of normal structure, this treatment is limited by the scarcity of newborn organs available for transplantation and the life-long need for anti-rejection therapy. Additionally, although outcomes for transplantation continue to improve, and the incidence of rejection is lowest in patient transplanted as newborns, the average life span of the transplanted heart is limited (currently less than 15 years).

The most commonly pursued treatment for Hypoplastic Left Heart Syndrome is "staged reconstruction" in which a series of operations, usually three, are performed to reconfigure the child's cardiovascular system to be as efficient as possible despite the lack of an adequate left ventricle. These surgeries do not correct the lesion, and are instead considered "palliative".

The first operation in the staged approach is known as the Norwood operation and is typically performed in the first week of life. With the Norwood operation, the right ventricle become the systemic or main ventricle pumping to the body. A "new" or "neo" aorta is made from part of the pulmonary artery and the original, tiny aorta, which is reconstructed / enlarged to provide blood flow to the body. Finally, to provide blood flow to the lungs, a small tube graft is placed either from an artery to the lung vessels (called a modified Blalock-Taussig shunt) or from the right ventricle to the lung vessels (called a Sano modification). Because of the extensive reconstruction of the aorta that must be done, this operation is one of the most challenging heart surgeries in pediatrics.

The subsequent operations in the staged reconstruction plan are the bi-directional Glenn procedure, typically done at 3 to 6 months of age, and the Fontan operation, typically done in children older than 2 or 3 years. These operations are described in more detail in the Heart Encyclopedia chapter on "Single Ventricle Cardiac Anomalies."

Results with staged reconstruction for children with Hypoplastic Left Heart Syndrome / Norwood operation
The Norwood operation is the most complex and highest risk procedure in the sequence of staged reconstruction for Hypoplastic Left Heart Syndrome. Current management at major pediatric heart centers has resulted in survival rates of 75 percent or better.

The recovery period in the hospital following the Norwood operation is often unpredictable and complicated, averaging about 3 to 4 weeks. A small percentage of patients who leave the hospital may continue to experience significant problems in the first months of life.

Occasionally, the right ventricle does not function well following the Norwood operation and in some case, cardiac transplantation may need to be considered.

If a child with Hypoplastic Left Heart Syndrome reaches the time for the second stage (about 4 to 6 months of age) without major complications, the survival through the Glenn and Fontan operations are much better, exceeding 90 percent with current methods.

Almost all children with Hypoplastic Left Heart Syndrome will continue to need some cardiac medications to maximize the efficient function of their heart, and all will require regular periodic follow-up visits with their cardiologist to evaluate their cardiac function and detect late complications such as arrhythmias.

Hypoplastic Left Heart Syndrome

2006-09-21T10:16:00.000+01:00

Dear Reader

To me one of the more trickery heart conditions to be operated on is the Hypoplastic Left Heart Syndrome, a baby born with this condition can somtimes go undected to a few weeks before things start failing but the proceedures to correct this is far more a delicate and complicated operation.. Going back 11 years or more ago those parents who knew that there baby Had HLHS during pregnancy were often advised on a termination as the life expectancy was not good and there were no real operations available to treat HLHS, in fact my friend did just that as no one knew for sure what other problems baby might have, and at the time I think it was the best thing she could have done (at that time 11 years ago).. But now there are operations still very tricky and in 3 stages, but more children are living or there seems to be more children on support groups with HLHS where ages ago there were not..

With the help of The Texas Heart Institute I have got some information below for you

Hypoplastic left heart syndrome (HLHS) is rare but serious. It is the most common cause of death from heart disease during the first week of life. With surgical repair or a heart transplant.
about 70% of children born with HLHS live at least 5 years.
In infants born with HLHS, the left ventricle and the aorta are small and underdeveloped. The left ventricle is the lower-left chamber of the heart and is responsible for pumping oxygen-rich blood to the body. The aorta is the artery that receives oxygen-rich blood from the left ventricle and sends it through the body. When the left ventricle and the aorta are too small, they can't supply the body with enough blood.
Also in HLHS, the mitral and aortic valves are often narrow or absent. The mitral valve acts like a door that opens to let blood into the left ventricle. The aortic valve lets blood out of the left ventricle. Without these openings, the left ventricle is shut off from the rest of the heart and the aorta. That means the left ventricle cannot pump any oxygen-rich blood into the body. Instead, the oxygen-rich blood returns to the right side of the heart through an atrial septal defect (ASD), a hole in the wall that divides the right and left sides of the heart.
In newborns, the atrial septal defect lets oxygen-rich blood reach the body because blood can pass from the right side of the heart and into the aorta, without going through the left side of the heart. The right side of the heart pumps blood into the pulmonary artery, and then a channel called the ductus arteriosus connects the pulmonary artery to the aorta. The ductus arteriosus is an important pathway in the fetal heart, but it closes in the first few days after birth.
Until the ductus closes, oxygen-rich blood enters the right side of the heart through the atrial septal defect. The right side of the heart then pumps blood into the pulmonary artery, and the ductus arteriosus lets blood flow into the aorta. The aorta carries this oxygen-rich blood to the body.
This means that for the first few days after birth, the baby may seem normal because oxygen-rich blood is reaching the rest of the body. But when that ductus closes, oxygen-rich blood no longer has a way of entering the aorta.
When there isn't enough oxygen-rich blood reaching the body, the baby's skin may turn blue. This is called cyanosis. Once this happens, the baby needs surgery or a heart transplant right away.
How is it treated?

There are two options for treating HLHS. One is heart transplantation, and the other is a three-part operation called the Norwood procedure. The survival rates for heart transplantation and the Norwood procedure are about the same.
In most cases, the Norwood procedure is used because of the shortage of donor hearts for transplantation.

The three steps of the Norwood procedure are
The stage I Norwood procedure. This surgery needs to be done soon after birth. The aorta is connected directly to lower-right chamber (the right ventricle) so the ductus arteriosus can be closed.

The stage II Norwood procedure (also called the bi-directional Glenn shunt). This is usually done when the baby is about 6 months old. The superior vena cava, which carries oxygen-poor blood to the heart from the upper part of the body, is connected to the pulmonary artery, which carries oxygen-poor blood into the lungs.

The stage III Norwood procedure (also called the Fontan procedure). This is usually done when the child is 1 to 3 years old or often in the uk between the ages of 3 and five years. The inferior vena cava, which carries oxygen-poor blood to the heart from the lower part of the body, is connected to the pulmonary artery, which carries this blood into the lungs.

The Special Zipper

2006-09-18T22:07:00.000+01:00

Whilst I have been learning to Blog, I came across the Special Zipper, a website in Austraila who is raising funds for Heartkids Australia, by the means of uptrading items, I believe people donate money for one Item but Trade in something else that can be raised from, I have copied the e-mail that Tim & Tarnya Sent me today so I hope you get some Idea of what they do.. The Link is on the Left hand Column as well if you can help them out.

Whilst recording our experiences on a blog in relation to our toddler that had open heart surgery in Melbourne, Australia at 5 days of age to reconstruct his mitral & aortic valves and also reconstruct his aortic arch and close a hole between the atriums (ASD), I came across a UK guy name Paul Youngson who was conducting an uptrade for a CHD organization.
Given the battle that our son Connor has displayed so far, and noting he still requires further open heart surgery in the future, I decided that following media coverage of the Kyle MacDonald’s ‘oneredpaperclip’ (where he traded a paper clip for a house over 12 months), it was time to dedicate some of my energy in an attempt to help future South Australian heartkids families.
I kicked off the challenge with "One fine zipper", a clothes zipper representing the scar that is left on many of our babies, toddlers, children’s chests following open heart surgery. They are very proud of their zippers so this seemed very appropriate. Tarnya, my wife and the more creative of the two of us, suggested the item and following a poll on the site at the commencement of trading, I decided to name it "The Special Zipper challenge".
At commencement of trading I was offered a "heart hugs teddy bear" from the California Heart Connection with the first trade making the challenge international. The bear was then traded with Heartkids Australia for a cap supplied by Stussy and signed by Tim Campbell of the Australian soapie ‘Home and Away’. In turn this was trade for a gold bracelet which led to a trade for the current item being a $250 voucher for a jewellery store in Adelaide.
We are now starting to reach a platform ready to launch into some serious trading to make a difference when funds from the final item traded are donated to Heartkids Australia.
The challenge can be followed at The Special Zipper

VSD

2006-09-18T11:52:00.000+01:00

As mentioned Charlie also had a VSD which also was repaired at the same time, so here is a diagram of a heart with VSD

So If you add the TGA With the VSD things were not good for Charlie, but had he not had the hole (VSD) he would have probably died soon after birth.. Charlies Balloon septostomy that he had done was to create and extra hole known as the ASD that you can see below

Both of these ASD (Man Made) and VSD (Born with) were patched up during the Swich opertaion using Gauze...stitched over the holes then the heart should grow over the gauze in time..

Transposition of the Great Arteries with VSD

2006-09-18T11:09:00.000+01:00

Above is a picture of a normal heart just so you can see the difference between a Normal and what Charlie had

Every year at least eight out of every 1,000 babies born in the UK have some sort of heart defect. About half of these babies have a minor defect and will not need any treatment but the rest will need either medical treatment or surgery.

In Charlies case he needed Major heart surgery called and Arterial switch operation for Transpostion of the great Arteries, and also a Balloon septostomy..prior to his major op to give him a better supply of oxygen

Transposition of the Great Arteries (TGA)

In Transposition of the Great Arteries (TGA) the aorta and the pulmonary artery are reversed. The aorta comes out of the right ventricle and carries blue blood to the body. The pulmonary artery comes out of the left ventricle and carries red blood back to the lungs. Very little red blood gets to the rest of the body.
Babies born with TGA can only survive if they have one or more connections that allow red blood to go to the body:
A hole between the two atria called an Atrial Septal Defect (ASD).
A hole between the two ventricles called a Ventricular Septal Defe ct (VSD).
A vessel connecting the pulmonary artery with the aorta called a Paten t Ductus Arteriosus (PDA).

Most babies with TGA are very blue soon after birth because these connections do not allow enough red blood to pass to the body.
To improve the oxygen supply of the body, a special procedure called "Balloon Atrial Septostomy", is used during heart catheterization to enlarge the atrial opening. This procedure improves the baby’s condition by reducing the degree of cyanosis.
Two general types of surgery may be considered. One surgical procedure that was popular in the past creates a tunnel inside the atria to redirect oxygen-rich (red) blood to the right ventricle and aorta and venous (blue) blood to the left ventricle and pulmonary artery. This operation is called a "Venous Switch or Intra-Atrial Baffle Procedure". It is usually performed in infancy. Various factors including the degree of cyanosis will determine how early in life a child may need surgery.

The current operation of choice is the Arterial Switch procedure where the major arteries are switched. This results in the aorta being connected to the left ventricle, which pumps oxygen-rich (red) blood to the body, and the pulmonary artery being connected to the right ventricle, which pumps venous (blue) blood to the lungs. This arterial switch procedure may be performed within the first few months after birth or, depending on various factors, may be performed at a slightly later age. If there is a large ventricular septal defect or other defects associated with transposition, the repair becomes more complicated and other operative procedures may be necessary.

After surgery, the long-term outlook is extremely variable and depends largely on the severity of he defects before surgery. Lifelong follow-up is necessary to be certain that any residual defects or problems are treated properly.

My Special Heart Child

2006-09-17T13:43:00.000+01:00

Dear Reader,

My 11 year old son was born back in February 1995, and he was born as a Normal healthy baby boy, all seemed to be going well until day 1 after birth when I had concerns that Charlie was not feeding very well, so the midwives checked that i was feeding him ok, they said all was fine, but for a new born baby not to feed was odd to me, but they said it would settle in a couple of days. Well Once home, Charlie was still not feeding very well at all, infact he fed for 10 minutes and Slept for 5 hours, this to me was worrying but no, midwives said just dont let him sleep any longer, your so lucky to have a quite baby.. My Dad used to comment that his breathing looked laboured but again that was Normal according to the midwives, and being my first ever baby I had no idea what babies should do.. this was all in the first 10 days, well on day 10 the Health Visitor took over the care from the Midwives, well she did not like what she saw at all, Charlies weight was very irratic, so she reported it to the GP, in fact the GP had seen Charlie on day 5 and thought she heard a heart murmur, but as he was squarking too much she couldn't be sure..

The GP told the Health Visitor not to come to our for a whole week then weigh him again, up until this moment he had been weighed daily as they did back then..

After that week of waiting my baby had only gained 2oz's above his Birth weight of 6lb 12oz's, so it was reported to the GP and thats the when we were sent to the local hospital for Charlie to be checked for a Heart Murmur.

Pretty scared and worried we set of for hospital, what a long night ahead of us, that night turned into a few weeks in hospital.. on the 20th Feb Charlie was taken to the Local hospital and 21st Feb was sent down to Great Ormond Street Hospital via ambulance with a nurse from the local hospital and myself, I told Martin not to come as the hospital were only going to check the size of the hole that the Local hospital had seen,, well Turns out after a 45 minute silent scan that seemed to take forever was the turning point in my life let alone my partner and family.. Charlie was diagnosed with Transpostion of the Great Arteries with Ventricle Septum Defect (TGA with VSD) the 21st Feb Turns out to be a day to remember for various reasons including the loss of my mates Dans little girl.. from that moment on Charlie became a CHD baby (congenital Heart Defect baby) the first op happedned 3 hours after diagnoses as Balloon Septostomy, which was to keep him going for some months before surgery was needed, well this turned out to be a matter of a couple of weeks, we were sent back to the Local Hospital to be shown how to insert a NGT (nasal Gastric Tube) which was how charlie got his feeds as well a medication, it went straight into his stomach, he was given a Dummy to help the sucking reflex but in time he ended up on the Bottle.. well Charlie picked up a sickness bug at the Local, and we ended back down at GOSH for treatment cause the local hospital said his bowels had turned inside out, (such rubbish ) it was lack of heygine on the nurses that made him poorly, well on the 24th March Charlie had his Arterial switch operation done at GOSH by Mr Marc deLeval lasting 8 hours, but that was the beginning of the rest of Charlies life, which I owe to the Surgeon, Charlie was in CICU (cardiac Intensive Care Unit for 24 hours before being taken to the less so intensive Care ward for 12 hours and on the main ward for 6 days before going home we arrived home on the 1st April, and to be honest there has been no looking back for us, Ok he has a murmur still for a stich hole and a Leaky Aortic Valve but he has not been what I would call Ill at all, at this point I will be touching all the wood I can find..

So I am going to say a huge thank you to Mr Marc DeLeval for saving his Life, plus the numerous cardiologists Proff Deanfield, Preff Reddington and now Dr Derek..

And those pictures are the same boy, the one of the left is Post op by a couple of weeks the other was this may after a steam rally..

Introduction I guess

2006-09-17T13:40:00.000+01:00

Dear Reader,

I am mum to 2 very special boys 1 being 11 years old, the other 9 weeks, I live in the UK in Bedfordshire in a tiny little village called Bletsoe, its only marked by a little dot on the map its that small, I have lived here for the past 15 years also with Martin by dear long suffering partner, plus the animals..

HELLO

2006-09-15T21:01:00.000+01:00

just sarted this one, but will be loads of postings off all things heart connected i hope..