Can congenital heart disease be prevented?
My friend’s daughter was born with a hole in the heart. Although she is now well thanks to surgery, I want to know if and when research will help us understand congenital heart disease to enable prediction or prevention of the condition.
Professor Jeremy Pearson says:
Better surgery has dramatically improved the survival and quality of life for children who have congenital heart disease. Although it is a relatively common condition (about eight in every 1,000 live babies are born with a heart defect), there are many different types of congenital heart disease.
In some cases, it is associated with a genetic condition such as Down’s syndrome. But in many cases, the congenital heart disease occurs in isolation of any other condition. We do know that it will have occurred because of a fault in one or more of the baby’s genes, which it may or may not have inherited from one or both of its parents.
Advances in DNA sequencing have helped us to find the mutation that causes a congenital heart defect
There are lots of genes that can cause congenital heart disease, making it very hard to identify which gene is causing the problem. In the future, we hope that it will be routine to take a tiny blood sample from the baby before birth to identify which gene is mutated (changed) to therefore plan the type and timing of surgery to improve the baby’s long-term outcome. This isn’t yet possible, although the BHF continues to support research aimed at turning the dream into a reality.
Meanwhile, the BHF is involved in training those who perform ultrasounds to identify heart defects at routine prenatal scans, so that paediatricians can advise the mother and plan a treatment. For simpler defects, these can even take place in the womb, before the baby is born.
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Meet the expert
Professor Jeremy Pearson is Associate Medical Director (Research) at the BHF where he co-ordinates the funding for our life-saving research. He’s a faculty member at King’s College London and spends up to a day a week there for research and teaching.