Medical Research Council - London Institute of Medical Sciences

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Using artificial intelligence and genetic screening to identify those at risk of serious heart problems

20 November 2021

A Thick Heart

With abnormally thick muscle, hearts of patients with the genetic disease hypertrophic cardiomyopathy (HCM) work harder to pump blood around the body, which can cause a variety of symptoms, and even sudden death. As part of an investigation into how HCM genetic mutations affect the heart, a cardiac magnetic resonance imaging (CMR) scan was carried out on 40,000 UK Biobank participants. This scan produces detailed images of the structures of the heart. Artificial intelligence (AI), in combination with CMR imaging, was then used to measure the thickness of the heart muscle – the rings seen here tracking the heart’s contours. Combining the imaging results with patient genetic information has enabled researchers to identify those people more likely to experience an adverse cardiac event in the future. Where patients possessed specific HCM genetic mutations, the researchers found their heart muscle was thicker and that these physical changes occurred before symptoms were experienced.

Written by Daniella Gimbosh

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