12:28am Monday 23 September 2019

New gene discovery for babies born with a hole in the heart

Scientists from across the world, led by BHF Professor of Cardiology Bernard Keavney, have analysed the genes of over 2,000 people with congenital heart disease to find specific genes linked to the condition.

Congenital heart disease affects about 1 in every 145 births. The researchers found a particular gene closely associated with one of the most common forms – an atrial septal defect where there is a ‘hole’ between the atria, the two chambers at the top of the heart.

Dr Shannon Amoils, our Senior Research Advisor, said: “We’ve made great strides in treating congenital heart disease; most babies born with a heart defect have a much brighter future now than they would have had in the 1960s when the BHF was founded. But we still need to fund much more research like this, to better understand the fundamental causes of congenital heart defects.

“These important results show how large collaborative studies are incredibly useful for uncovering the influence of our genes on congenital heart disease. As researchers continue to identify other associated genes, we will be able to better predict the chances of children being born with heart problems, and will also learn more about the underlying processes that can go wrong in the developing heart.”

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The discovery was published in the journal Nature Genetics.

British Heart Foundation is a registered Charity No. 225971. Registered as a Company limited by guarantee in England & Wales No. 699547.

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