AOSupport

We FINALLY had our visit with a cardiologist. JC's EKG and ECHO came back fine. But the Dr. did ask if I was aware of this being an issue AOS sufferers were born with, or was there a chance that it can develop overtime. From what I have been reading from previous posts here is that PH can develop. Is this correct? And that it is more so associated with CMTC and other vascular abnormalities? I had emails with me from Dr. Patel, so she said she would try to contact him, but I'm not sure that I will be provided the details. She said she would see us in two years, unless she hears otherwise. Does this sound about right?

Thank-you so much for your help.

Don't get me wrong, I am no doctor. But I have been lucky enough to make contact with a lot of families and have read as many articles in medical journals as I can on the topic. This is my opinion on the matter though it may not be accurate as it is only based on my limited knowledge.

Pulmonary hypertension can develop. I know of some individuals who have had an ECHO at birth that showed everything was fine but then they developed PH later. It does seem to exist in combination with AOS and CMTC. Not sure why or how but there appears to be a link. I also think the first couple of years are vital in checking the heart. I don't know of any older children or adults who developed and had complications of PH due to AOS. If I remember right, I believe Dr. Patel recommended an ECHO for my son every 6 months. Perhaps this was because of his CMTC or his poor growth. We have worked closely with our cardiologist and he is familiar with the possibility of my son developing PH. We have only had one ECHO at birth and will have another one in a couple of months now that he is 3. We have had regular EKG's in between which has allowed us to put of another ECHO has his condition has not gotten worse. I would be very familiar with signs or PH, such as poor weight gain, difficulty eating, shortness of breath. I would check back with your cardiologist to make sure waiting another 2 years for anymore tests is the best for JC. ECHO's are a bit harder because often they need to be sedated, but an EKG can tell whether the heart is being over worked or not and is an easy noninvasive test you may wish to consider. Trust your gut. That is the best advice I can offer! I am so happy to hear though that he is looking good and that the tests came back normal! That is great!

I realize that you should "always consult your doctors" but at this point you have been much more helpful and knowledgeable than many of the doctors we have seen.

JC does NOT have CMTC. In your opinion, are we at the same risk of developing PH? Do you know of anyone with just the AOS risk factor who's developed PH?

Thank-you kindly.

No.

Someone please correct me if I am wrong but I cannot remember ever hearing or reading about a case of PH in an AOS patient without CMTC. The two seem to have a different affect. Remember though, we are talking about just a small handful of cases and don't have enough AOS patients out there to make certain, and obviously finding the gene(s) would help too in making such connections.

Unless Dr. Patel has told or recommended to you otherwise, but in my contact with him, it seems that he too believes there is a link with the CMTC causing PH with AOS infants/children.

If I was in your shoes, I think since everything looked great with his ECHO, I would feel comfortable with what your cardiologist is telling you. Especially considering she is doing some research on her own and trying to make contacts. She isn't just shoving you off as an overreactive parent. Just keep those symptoms in the back of your mind and if something comes up you may consider it as a possibility instead of overlooking it.

Being a parent can be stressful enough, but when you through possible health problems in there it is even more nerve racking! Hope I answered your question!