Hypertrophic cardiomyopathy (HCM) affects one in 500 people worldwide. Triggered by excessive contractions that cause the heart muscle to thicken, HCM can give rise to complications including arrhythmia and heart failure. In rare cases, the disease can bring about cardiac arrest and is one of the causes of sudden death in young people. To help prevent these complications, Dr. Rafik Tadros, cardiologist at the Montréal Heart Institute, is working to identify the genetic variants at the root of this hereditary disease.

A genome-wide association study that scanned the genomes of over 110,000 individuals detected 70 genomic regions that are linked to an increased risk of developing HCM. The findings substantiate the idea that the disease isn’t caused by a single mutation but by a range of genetic variants. Identifying the areas of the genome linked to HCM also sheds light on some of the mechanisms involved. For instance, it was found that certain variants are responsible for greater heart contractility leading to a higher risk of HCM.

When a patient is diagnosed, family screening is recommended to identify the individuals who carry the genes and are therefore more likely to develop HCM. Unfortunately, there is no treatment to prevent the onset or development of the disease. However, these recent findings may predict a patient’s risk of complications based on their genetic profile, so people at a higher risk of stroke due to atrial arrhythmias may be prescribed anticoagulants and those at a higher risk of cardiac arrest may receive an implantable cardioverter defibrillator. Dr. Tadros, who is also a professor in the Faculty of Medicine at Université de Montréal, is hopeful that early treatment could eventually supress the overly vigorous contractions and stop the progress of the disease.


–        https://www.nature.com/articles/s41569-021-00608-2

–        https://www.medrxiv.org/content/10.1101/2023.01.28.23285147v2