Are respiratory problems common in Noonan Syndrome?

| 0

Are respiratory problems quite common with Noonan Syndrome? My daughter has pulmonary stenosis, HCM and an ASD but everything that keeps putting her in hospital is respiratory. Any infection turns into a major infection on her chest and hospitalises her. She’s been admitted thirty-two times in two years.

It’s sometimes very difficult to distinguish lung related causes and heart related causes in this situation and we also know that respiratory infections that might be very well tolerated in individuals without heart disease often are much less well tolerated in children who have cardiac involvement, particularly when there’s a combination of things. So if you have hypertrophic cardiomyopathy and pulmonary valve stenosis and an ASD, these are three different things that effect the heart in slightly different ways and so we’ve certainly seen that children who present with chest infections that you wouldn’t normally expect to cause significant symptoms, take a lot longer to get better, and often children feel much worse with them during that time. I’m sure that they’re right that the cause of the deterioration is respiratory – a lung related issue but I’m sure that the heart is contributing in that it’s making things worse. Individuals with a cardiac condition are eligible for an immunisation for the RSV virus which is worth exploring.

Another thing to think about here is family history of respiratory conditions. For a child to be admitted thirty-two times is quite marked, there’s something going on there that does need to be evaluated. There could be some immunological investigations that could be helpful. It may also be a consequence of small micro-aspirations that she has now developed a condition whereby she is oxygen dependent. Again, its things we can address and she could grow out of but we need to know the causes so there will be all sorts of tests like speech, language and swallow assessments.

Question asked and answered at our family’s day 2018