Large-scale heart disease study reveals genetic roots of childhood disease

Researchers have discovered gene mutations linked to three new rare congenital heart disorders through the largest genomic study of heart disease in children.

A team from the Wellcome Trust Sanger Institute worked with international collaborators to sequence and analyse the protein-coding segments of the genome of 1,900 congenital heart disease (CHD) patients and their parents.

Nine in ten CHD patients have isolated heart defects and are called non-syndromic, while the remainder of syndromic CHD patients have additional developmental problems such as abnormalities in other organs, or an intellectual disability. 

It had previously been thought that both these forms might be caused by spontaneous mutations absent in the parents, but this study showed that non-syndromic patients did not have such mutations, proving they had inherited damaging gene variants from seemingly healthy parents.

Understanding these factors could make it possible to advise parents more accurately about their chances of having a second child with CHD.

Dr Mathew Hurles, lead author from the Wellcome Trust Sanger Institute, said: "This is the first study to quantify the role that rare inherited variants play in non-syndromic CHD, and is extremely valuable as these patients make up 90 per cent of CHD patients worldwide."