January 26, 2021
This medical breakthrough could help prevent the leading cause of sudden death in young people.
An international team of researchers co-led by Dr. Rafik Tadros, Cardiologist at the Montreal Heart Institute and Assistant Professor at the Université de Montréal, has identified new genetic traits associated with heart muscle disease (cardiomyopathy). This breakthrough, published today in the prestigious scientific journal Nature Genetics, could have a significant impact in the development of drugs against this disease whose mechanisms are still little known.
Cardiomyopathy is a primarily hereditary disease that affects the heart muscle and reduces the heart’s ability to pump blood efficiently towards the rest of the body. The two most common types of this disease are dilated cardiomyopathy (DCM), which is characterized by a dilated and weakened left ventricle, and hypertrophic cardiomyopathy (HCM), characterized by an increase in this ventricle’s wall thickness. These two types of cardiomyopathy are the main causes of sudden death and heart failure in young individuals.
Through this study, Dr. Tadros and his team highlighted how certain genetic variants contribute to both the likelihood and severity of developing these types of cardiomyopathy. They have identified 15 new regions of the human genome associated with HCM and 7 with DCM, providing a better understanding of the mechanisms underlying these types of cardiomyopathy.
The research team has also shown that the genes involved in HCM are also involved in DCM, but in opposite ways. “In other words, certain genetic variants that increase the risk of HCM through increased heart muscle strength protect against DCM, and vice versa,” says Dr. Tadros, the study’s first and corresponding author. “This finding has improved our understanding of HCM, for which no effective treatment is currently approved, and will certainly lead to improved clinical management of patients.”
The complete study data can be accessed at: https://www.nature.com/articles/s41588-020-00762-2