Study reveals complex origins of hypertrophic cardiomyopathy

A recent study involving cardiologist Rafik Tadros from Université de Montréal focuses on hypertrophic cardiomyopathy (HCM), a genetic heart disease. HCM affects about one in 500 people and can cause sudden death or heart failure. The condition causes the left ventricle, the heart's main pumping chamber, to thicken abnormally. Despite being known as a genetic disorder, only one-third of HCM cases can be linked to a specific gene. The rest have unknown causes. There is variability in how the disease presents; some people with genetic mutations do not show symptoms. Researchers now believe HCM arises from both genetic factors and lifestyle choices. Currently, there is no specific treatment for HCM. Doctors manage symptoms instead. They prescribe anticoagulants for blood clot risks or implant defibrillators for cardiac arrest. In cases of thickened ventricle walls, medication or surgery may be necessary. The study examined the genomes of about 5,900 HCM patients and a control group of nearly 69,000 people. The researchers identified 70 genome regions linked to the disease. They used artificial intelligence to enhance their analysis of heart function. The study is just the beginning. Future research will explore why these genomic regions are associated with HCM. This could lead to better predictions about who might develop the disease and help target treatments more effectively. Dr. Tadros is hopeful that advancements will improve patient care and reduce unnecessary monitoring for those at lower risk.