Sunday, February 10, 2008
Thursday, April 19, 2007
Please sign my Petition
I have put a petition to the Prime Minister..
I would like the right for parents to be given the automatic training to be able to give their own child their medication at home where the child is either is long term sick or just needs long term IV Antibiotics (like Foscarnet) ,, this would avoid the child spending 3 weeks in a hospital Bed each time.... And Families having to be seperated, Also enabeling the child and family to lead a relativly normal life
http://petitions.pm.gov.uk/LonglineTraining/
open to all uk residents and expats I need 1000 votes in 6 months for it to be given consideration
please pass on the link to friendsm family your blogs, Myspace ect
many thanks
I would like the right for parents to be given the automatic training to be able to give their own child their medication at home where the child is either is long term sick or just needs long term IV Antibiotics (like Foscarnet) ,, this would avoid the child spending 3 weeks in a hospital Bed each time.... And Families having to be seperated, Also enabeling the child and family to lead a relativly normal life
http://petitions.pm.gov.uk/LonglineTraining/
open to all uk residents and expats I need 1000 votes in 6 months for it to be given consideration
please pass on the link to friendsm family your blogs, Myspace ect
many thanks
Wednesday, March 28, 2007
Marfan Syndrome
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
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
Wednesday, March 14, 2007
Interrupted Aortic Arch / Ventricular Septal Defect
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.
Return to Top
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.
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.
Return to Top
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
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.
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.
Friday, March 02, 2007
Non-surgical technique replaces the need for open-heart surgery
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
valve replacment
Images
Pulmonary Valvar Stenosis
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.
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.
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