Hole in the heart; Down syndrome

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My husband learnt at 48 that he has lived his whole life so far with a hole in his heart. Google tells us that up to a quarter of adults have this – we were astounded. My understanding is that it is genetic, but now this makes me worry about our baby and our future babies, as congenital heart issues are so common, right? And we clearly have it in the family. Will our baby’s heart be examined properly at birth? How do we know if the hole will close by itself?

PROFESSOR NTSINJANA ANSWERS: Yes, it is not uncommon for one to find out as an adult that they have a hole in the heart. In actual fact, congenital heart defect (CHD) may be diagnosed at any stage from foetal to adulthood. One in 100 babies will be born with CHD, and one in 150 adults have some form of CHD.

Causes for a child to be born with a CHD are multifactorial. Genetic predisposition is one of many of these factors. What you need to understand is that family history of CHD from both maternal and paternal sides is important, as the likelihood of a child having a CHD is increased if a first-degree relative has CHD.

Because of the advances in technology, it is now possible to screen an unborn baby for CHD. Also, a positive family history is an indication for your newborn baby to be referred to a paediatric cardiologist for screening. Whether the hole will close by itself or not is difficult to know without examining the baby with an echocardiogram. Also, not all holes in the heart are the same, hence they behave differently, and your child’s cardiologist will take you through these when they see your child.