Pulmonary Stenosis
What is pulmonary stenosis?
Pulmonary stenosis is relatively common and accounts for about 10% of heart defects diagnosed during childhood. It can occur in children with otherwise normal hearts or along with other congenital heart defects such as atrial septal defect or Tetralogy of Fallot. It occurs more frequently in children with Noonan syndrome and Williams syndrome which are both rare genetic conditions.
The heart is a four-chambered pump with four heart valves. The valves are made of thin flaps of tissue that open to allow the blood to flow forward and close to prevent the blood from flowing backwards. The pulmonary valve (1) is located on the heart's right side. Blue blood that comes from the body is pumped from the right lower chamber called the right ventricle (2) to the pulmonary artery (3) and then circulates to the lungs.
When a child has pulmonary stenosis, the area where blood exits the heart's lower right chamber is too narrow. Usually, the pulmonary valve itself is affected which is called valvar pulmonary stenosis. This problem is often caused by fusion of the valve leaflets. Subvalvar stenosis is the term used when the narrowed area is below the valve. Supravalvar stenosis is the term used when the narrowed area is above the valve.
Thursday, May 21, 2009
Medical Conditions
It now appears that a small number of children with Williams syndrome can have narrowing of the coronary arteries. These are the arteries that go from the aorta to the heart muscle itself. (These same arteries are narrowed in adults with atherosclerosis, but for a different reason.) All the WS kids who have had 'Coronary Artery Stenosis' also had SVAS (Supravalvular Aortic Stenosis), but that may not hold up as more cases are discovered. If severe, coronary narrowing can cause 'myocardial ischemia' - lack of blood to the heart itself - and the possibility of permanent damage to the heart. Some of the children with coronary stenosis that we have seen did have damaged, scarred hearts. While an EKG might show evidence of ischemia or damage that has occurred already, it is very difficult to diagnose coronary narrowing except by doing a catheterization.
Coronary artery stenosis can cause complications, including heart attack, during the catheterization procedure. Therefore, it is important that your cardiologist be aware of this possibility beforehand. Also, it is advised that "non-ionic contrast agents" be used during the catheterization, rather than "ionic agents". This could help reduce the risk of the procedure itself. A good reference is by EE Conway, J. Noonan, RW Marion, & CN Steeg, in Journal of Pediatrics, October 1990, vol. 117, pp. 593-595.
At the 1990 convention in Boston, one parent reported that her child had "Malignant Hyperthemia". This is a very rare complication of anesthesia in which the body temperature rises extremely quickly and extremely high soon after anesthesia is started. We are aware of another case of malignant hyperthermia in a child with WS. Also a journal article has been published about another child with WS who developed Masseter Spasm, which sometimes precedes malignant hyperthermia. In masseter spasm, the jaw muscles tighten and force the mouth closed.
Although treatable, malignant hyperthermia is potentially very serious. It sometimes runs in families, and it seems to be more frequent during surgery for strabismus, which many kids with Williams have. The anesthesia drugs most frequently associated with malignant hyperthermia are "succinycholine" and "halothane" (But even with these drugs, the occurrence is very rare). Again, the important thing is that the anesthesiologist be made aware of the association between Williams syndrome and malignant hyperthermia, so that appropriate precautions and the use of other anesthetic drugs can be considered. The journal article referencing this information is by J Patel & MJ Harrison, Anaesthesia, 1991, vol. 46, pp. 115-116 If you have any unanswered questions about coronary stenosis or malignant hyperthermia, be sure to bring them up with your child's regular physician, cardiologist or anesthesiologist.
Coronary artery stenosis can cause complications, including heart attack, during the catheterization procedure. Therefore, it is important that your cardiologist be aware of this possibility beforehand. Also, it is advised that "non-ionic contrast agents" be used during the catheterization, rather than "ionic agents". This could help reduce the risk of the procedure itself. A good reference is by EE Conway, J. Noonan, RW Marion, & CN Steeg, in Journal of Pediatrics, October 1990, vol. 117, pp. 593-595.
At the 1990 convention in Boston, one parent reported that her child had "Malignant Hyperthemia". This is a very rare complication of anesthesia in which the body temperature rises extremely quickly and extremely high soon after anesthesia is started. We are aware of another case of malignant hyperthermia in a child with WS. Also a journal article has been published about another child with WS who developed Masseter Spasm, which sometimes precedes malignant hyperthermia. In masseter spasm, the jaw muscles tighten and force the mouth closed.
Although treatable, malignant hyperthermia is potentially very serious. It sometimes runs in families, and it seems to be more frequent during surgery for strabismus, which many kids with Williams have. The anesthesia drugs most frequently associated with malignant hyperthermia are "succinycholine" and "halothane" (But even with these drugs, the occurrence is very rare). Again, the important thing is that the anesthesiologist be made aware of the association between Williams syndrome and malignant hyperthermia, so that appropriate precautions and the use of other anesthetic drugs can be considered. The journal article referencing this information is by J Patel & MJ Harrison, Anaesthesia, 1991, vol. 46, pp. 115-116 If you have any unanswered questions about coronary stenosis or malignant hyperthermia, be sure to bring them up with your child's regular physician, cardiologist or anesthesiologist.
What is Willliams Syndrome exactly?
Williams syndrome (WS) is a genetic disorder first described by J.C.P. Williams of New Zealand. It is estimated to occur in about 1 in 20,000 births. Research has indicated that individuals with Williams syndrome have a chromosomal abnormality. A blood test technique known as the fluorescent in situ hybridization (FISH) may be used to detect the deletion of the elastin gene on chromosome #7 of the individual's DNA. This chromosomal abnormality confirms the diagnosis of Williams syndrome. Williams syndrome is present from birth, although it often remains undiagnosed until a later stage of development. After a child has missed several developmental milestones, the pediatrician may refer him or her to a specialist for diagnosis. Developmental delays that are typical include delay in sitting or walking. Also commonly observed are poor fine motor coordination and delayed development in language (although individuals with WS go on to develop excellent language skills). After reviewing the child's medical and family history, physical condition, and observing the child's behavior, a specialist in birth defects may identify symptoms of Williams syndrome. In many cases, a heart murmur or suspected heart disorder may lead a cardiologist to suspect Williams syndrome, since an estimated 70-75% of people with Williams syndrom have mild to severe cardiovascular problems.
Diagnosis and treatment
Williams syndrome cannot be cured, but the ensuing symptoms, developmental delays, learning problems, and behaviors can be treated. There is a wide variation in the number and severity of symptoms among the individuals with Williams syndrome.
Specialists who can be helpful in diagnosing and treating Williams syndrome include
Physical characteristics typical of Williams syndrome include a broad forehead, puffiness around the eyes, stellate eye pattern (in blue-eyed children), upturned nose, depressed nasal bridge, full lips, widely spaced teeth, and small chin. In addition, a child with Williams syndrome often exhibits one or more of these characteristics: sloping shoulders, and elongated neck. Many individuals with Williams syndrome have heart disorders, typically supravalvular aortic stenosis (narrowing) and pulmonary stenosis. Kidney and bladder problems are also common. Poor muscle tone and problems with the skeletal joints become evident as a person with Williams syndrome moves into adolescence.
cardiologist, to diagnose and prescribe treatment for heart or circulatory problems;
endocrinologist, to prescribe treatment if elevated calcium levels are detected in infancy;
pediatric radiologist, to conduct diagnostic renal and bladder ultrasound tests to diagnose and prescribe treatment for any abnormalities present; and
occupational therapist, to assess development delays and prescribe a plan for therapy to acquire skills necessary for daily living.
Diagnosis and treatment
Williams syndrome cannot be cured, but the ensuing symptoms, developmental delays, learning problems, and behaviors can be treated. There is a wide variation in the number and severity of symptoms among the individuals with Williams syndrome.
Specialists who can be helpful in diagnosing and treating Williams syndrome include
Physical characteristics typical of Williams syndrome include a broad forehead, puffiness around the eyes, stellate eye pattern (in blue-eyed children), upturned nose, depressed nasal bridge, full lips, widely spaced teeth, and small chin. In addition, a child with Williams syndrome often exhibits one or more of these characteristics: sloping shoulders, and elongated neck. Many individuals with Williams syndrome have heart disorders, typically supravalvular aortic stenosis (narrowing) and pulmonary stenosis. Kidney and bladder problems are also common. Poor muscle tone and problems with the skeletal joints become evident as a person with Williams syndrome moves into adolescence.
cardiologist, to diagnose and prescribe treatment for heart or circulatory problems;
endocrinologist, to prescribe treatment if elevated calcium levels are detected in infancy;
pediatric radiologist, to conduct diagnostic renal and bladder ultrasound tests to diagnose and prescribe treatment for any abnormalities present; and
occupational therapist, to assess development delays and prescribe a plan for therapy to acquire skills necessary for daily living.
My son Zechariah
Will today is May the 21 and my son is at his baseball game with his dad and zechariah is asleep. Zechariah is now 3 1/2 years old and he was diagnosed with Williams Syndrome at the age of 1 or so. Williams syndrome can never be cured and it complicates my babies life. However he may not know it yet but i do and it breaks my heart sometimes but I have faith that God will take care of him and he will cure my son when the time is right. I just get so confused because I do not like to discipline him but sometimes he acts up but on the other hand my baby does not understand many of the things I tell him to do and not to do. He is still not talking and he is still in diapers but he is always smiling and showing love to everyone. He is my ZECHARIAH my gift from God and I love him so, so, much he is my happy meal and he fills me up with feelings. Here he is looking for eggs (2009) he is so cute and filled with love he amazes me everyday and even though he may look normal he struggles with a heart condition.
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