3 year old son Pulmunary Valve Stenosis

[MandaJo111]

My son was diagnosed with Pulmonary Valve Stenosis at 2 months old. The stenosis has not changed in size & is presenting no problems. I was reading an article however on it and came across William's syndrome. I know it is rare, but I am concerned that my son has a few of the symptoms.  

At just over a year old, he was diagnosed as Failure to Thrive -- cystic fibrosis was ruled out. He has always been in the 3rd to 5th percentile. Currently at 3 years & 4 months old he is 28 lbs & 39 inches tall. He has also had repeated ear infections as well as 2 burst ear drums. He now has tubes in his ears & has had one ear infection in the 6 months since the tubes were put in place. He is very sensitive to sound & the television and radio must be kept below the normal level as he complains that it is too loud, holds his ears, and freaks out.  

He also breaths with his mouth open and I actually had to "teach" him to close his mouth so that he would not droll.  However, this can be attributed to his nasal problems (both from sinuses and the fact that his left nostril is smaller than the right)  

His teeth look fine though, but he does have an overbite.  

He has an excellent memory & a vast vocabulary. He does not seem to have any learning problems or developmental delays (other than potty training difficulties).  

He also has a tendency to bump into things. He runs into walls or doorways causing bumps and bruises now and then.  

Do you think that he could possibly have this condition, if so what steps that I should I take with his pediatrician.  

Thank you,

Amanda

[CCF-M.D.-MJM]

Hi Amanda,

Sorry to hear about your sons pulmonary stenosis.  I don't see a lot of kids in my day to day practice.  Pulmonary stenosis is assoicated with Noonan's syndrome (Williams Syndrome is associated with supravalvular aortic stenosis).  Noonan's syndrome is associated with congenital heart disease like pulmonary stenosis and short stature.  It is possible he could be affected.  This is a relatively rare condition.  I would go to a large referral center with a good pediatric cardiology department to evaluate the pulmonary stenosis and associated problems.  It is very difficult to diagnosis these rare conditions, if in fact your son has one.  That is why I think seeing a specialist is so important.

I hope this helps.  Good luck and thanks for posting.

[MandaJo111]

I appreciate your response.  He does see a pediatric cardiologist.  He is from a larger practice in Louisisana, but travels to Mississippi to see patients here once a month.  I still have to drive an hour to where he comes to practice monthly, however, it is better than 6 hours or more.  His cardiologist has never mentioned other problems other than the stenosis itself.    

He is not scheduled to go back to see him for two years as he just had a checkup and everything seemed fine and the Pulmonary valve stenosis was presenting no problmes.  

I looked over the Noonan syndrom (syndrome), but I really do not see hardly any similarities between it and my son's problems (a relief).  I had seen on a link from your site that Pulmonary Valve Stenosis was part of William's Syndrom (syndrome).  It was actually on you site that I learned of Williams Syndrom (syndrome).  This is the link that I read that led me to believe that my son my in fact have it. http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm

Under the list of symptoms it says"
"blood vessel narrowing including: supravalvular aortic stenosis, pulmonic stenosis, and pulmonary artery stenosis"

I am not at all questioning your expertise.  I would just like to confirm that this is in fact right.  

I trust your opinions 100%  I find everything you say very valuable.  And I appreciate you taking time out of your day to answer my question.  

If pulmonary valve stenosis is in fact not one of the symptoms, then I will let this go and not worry myself about it anymore.  You do everyone here a wonderful service with this site!

Thank you once again!!!

Amanda

[abbs]

hello,

sorry to hear about your son.  i read this forum regularly because my son and my husband both have a larger than normal aortic root.  my son is 9yrs of age and was also very clumsy as a toddler.  he still is not the most graceful boy but this has improved since he got glasses and underwent physical and occupational therapy.   his depth perception was off.  have you had your son's eye's checked.  I am also a speech therapist and i do know that ears play a large roll not only in hearing but equilibrium and balance.  if your son has had ear problems then this may be an issue. I would also question milk allergies since he is still getting infections after the tubes.  at any rate i would highly advise you to take him to a good developmental pediatrician or children's hospital.  both of my children underwent occupational and physical therapy through early intervention progams and wow what a difference.  I strongly believe in early intervention.  Good luck!!