Cardiology FAQ

Are respiratory problems common in Noonan Syndrome?
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
Is difficulty controlling body temperature common?

Is it common to have an issue with a child regulating his body temperature – starting to go blue after 5 minutes swimming but so hot in bed at night he can hardly be touched?

The issue with body temperature is seen in neurological conditions such as CFC and Costello and sweating seems to be quite common in Noonan Syndrome but it does seem to diminish with age.

Question asked and answered at our family’s day 2015

Is the contraceptive pill safe with cardiomyopathy?

My fifteen-year-old granddaughter has hypertrophic cardiomyopathy and has very heavy periods. Can she be given progesterone or the contraceptive pill to help with the period problems taking into account the hypertrophic cardiomyopathy?

This would need to be checked with her own cardiologist. It’s true that there are certain heart conditions where the oral contraceptive pill is contra-indicated and that’s because in some situations there’s an increased risk of stroke. There are some other treatments for very heavy periods that may be considered but again you may have to be guided by specialists such as a gynaecologist.

Question asked and answered at our family’s day 2018

What considerations will need to be made in surgery with bruising issues?

My son bruises very easily when he falls over and the bruises last a very long time. He’s unfortunately got both pulmonary and aortic valve problems so he’ll need an artificial valve when his heart deteriorates to a certain level and then he’ll have to go on blood thinners. What considerations would there need to be regarding his bruising issues.

There has been a fairly large study of clotting factors in children with Noonan’s which found that there were occasional issues with factor 8 clotting agent but usually these were not causing serious bleeding although they did cause bruising more easily. In rare cases of post-operative bleeding, it was relatively easy to correct that with fresh blood which did contain the clotting agent. If it did come to an operation for the child in question, the specific needs would be looked at carefully and there were options as regards blood thinners as new ones were being developed, although very few were licenced for use with children at the moment. There are artificial valves which don’t require anti-coagulation but as in most cases, it very much depended on the individual case and there would be very detailed investigation before a decision was made. There had however been several cases where Warfarin had been used with children with Noonan’s.

Question asked and answered at our family’s day 2015

What is the future for surgery for pulmonary stenosis?

A lot of NS children have had open heart surgery for pulmonary stenosis. Will future developments in technique mean a less invasive treatment? 

Less invasive techniques were available for more straightforward cases to open up a pulmonary valve but this “balloon” procedure didn’t work as well when the valve was very thick or abnormally formed. In these cases, surgeons often choose to go for open heart surgery as the result is likely to be better first-time round. But in many individual cases of children with NS it was possible to do the less invasive balloon dilation technique and hopefully that these techniques will improve in the future.

Question asked and answered at our family’s day 2015

Will my child need more surgery?

What are the chances of my child with pulmonary stenosis who had open heart surgery in the past having more surgery as she gets older?

It’s very variable. It depends on the initial condition and the initial procedure performed. It’s not unusual for individuals who’ve had particularly surgery to the pulmonary valve for that valve in time to become leaky and often that does require further procedure. It’s not universal by any means and it depends on the shape and the look of the valve – the morphology of the valve and the procedure that was performed. It is well established that anyone who’s had an intervention to their pulmonary valve should have lifelong follow up. There are adult congenital heart services around the country which would provide that sort of follow up.

Question asked and answered at our family’s day 2016