A new way to identify genes linked to heart failure

The study could open the way to earlier identification of people at risk of heart failure and to the development of new treatments.


Scientists at the Queen Mary University of London used AI technique for earlier identification of people at risk of heart failure. They tested the method on 17,000 healthy UK Biobank volunteers and found that genetic factors accounted for 22-39 percent of the variation in the size and function of the heart’s left ventricle, the organ’s main pumping chamber.

The study, in other words, suggests that genetic factors significantly influence the variation in heart structure and function. Scientists found fourteen regions in the human genome associated with the size and function of the left ventricle – each containing genes that regulate the early development of heart chambers and the contraction of the heart muscle. Enlargement and reduced pumping function of the left ventricle can lead to heart failure.

Lead researcher Dr. Nay Aung from the Queen Mary University of London, said: “It is exciting that the state-of-the-art AI techniques now allow rapid and accurate measurement of the tens of thousands of heart MRI images required for genetic studies. The findings open up the possibility of earlier identification of those at risk of heart failure and new targeted treatments. The genetic risk scores established from this study could be tested in future studies to create an integrated and personalized risk assessment tool for heart failure.”

“The AI tool allowed us to analyze images in a fraction of the time it would otherwise have taken. Our academic and commercial partners are further developing these AI algorithms to analyze other aspects of cardiac structure and function. This should translate into time and cost savings for the NHS and could potentially improve the efficiency of patient care.”

Steffen Petersen, Professor of Cardiovascular Medicine at the Queen Mary University of London, who also worked on the project, said: “Previous studies have shown that genes partly influence differences in the size and function of the heart, but we have not understood the extent of that genetic influence. This study has shown that several genes are known to be important in heart failure also appear to regulate the heart size and function in healthy people. That understanding of the genetic basis of heart structure and service in the general population improves our knowledge of how heart failure evolves.”

“The study provides a blueprint for future genetic research involving the heart MRI images in the UK Biobank and beyond.”

Patricia Munroe, Professor of Molecular Medicine at the Queen Mary University of London, who also worked on the project, said, “High fidelity MRI measures combined with genetics is reassuringly validating many known heart structural proteins, but our work also finds new genes from more heritable functional measures that are associated with ventricular remodeling and fibrosis. Further genetic studies, including analyses of additional heart MRI chambers, are expected to provide deeper insights into heart biology.”

It is expected that many more genetic markers for cardiac conditions will be identified as the UK Biobank database grows. Earlier this month UK Biobank announced it would begin sequencing the whole human genome of 450,000 participants, following the success of the pilot sequencing program in 50,000 participants.

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