Research exploring genetic links to congenital heart disease

Researcher looking at a microscope in a lab

An international collaboration has discovered previously unknown links between genetics and congenital heart disease, with the help of BHF funding.

Having a congenital heart defect means you are born with a problem with the structure of the heart, such as a hole in the heart.

For many babies the effects are mild, but in some cases they are severe. Until recently it was thought that congenital heart defects are not usually inherited. But we now know that our genes can play a significant part.

A worldwide collaboration, funded by the BHF and the Wellcome Trust, has helped us understand why some people have congenital heart defects.  

The study, led by Professor David Brook and his team at the University of Nottingham, looked at the genetic code of thousands of people with congenital heart defects, using computer analysis. 

We are aiming to bring a better understanding of the genetic contribution to congenital heart disease.

Professor Brook, University of Nottingham.

They identified three new genes that cause congenital heart defects. They also identified genes known to cause other disorders, which can now be shown to cause congenital heart defects, too. 

This study is the first to identify the genetic differences between congenital heart disease as a single problem, and occurring in combination with other medical problems. 

Knowing the genetic cause of a patient’s hear defects can inform choices about treatment and testing family members, as well as helping to predict the  risk for other children.

Professor Brook says: “It remains complicated, but there is a greater genetic contribution to congenital heart disease than we previously thought. “We are aiming to bring a better understanding of the genetic contribution to congenital heart disease. It means better information for parents, so we can tell them with greater certainty what the implications are for any possible future children".

Understanding which genes are important for the development of the heart could have other uses in future. For example, it could lead to repairing hearts damaged by a heart attack.

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