Measuring genetic disorders of the myocardium

When affecting one in 500 people, hypertrophic cardiomyopathy is an abnormally thickened wall of the left ventricle, the main pumping chamber of the heart. "HCM is one of the leading causes of sudden deaths in young, healthy patients, and is also a frequent cause of heart failure that requires surgery or implantation," says Dr. Raffic Tadros, PhD, a cardiologist and associate professor at the University of Monttorill School of Medicine. Although HCM was first identified in the 1950s, recent advances in genomics and increased statistical power have shed new light on the disease. However, many gaps in scientists' understanding remain unexplored. Working with colleagues from around the world, Tadros participated in major studies focusing on the genetic causes of HCM. To conclude the 10-year study, the study was published last month. Natural genetics. The cause is almost unknown Raffic Tadros Credit: Courtesy HCM has always been considered a genetic disorder, but problematic genes are only detected in one third of cases. For the rest, the cause is unknown. "There is a considerable variation in the expression of HCM," Tadros said. It is now beginning to be understood that HCM is caused by a combination of genetics and other lifetime risk factors (e.g., environment, lifestyle, comorbidities). "The evaluation at birth is usually normal, but the illness appears later in either adolescence or adulthood," Tadros said. Currently, there are no specific treatments for HCM. "What we are treating is the result of our illness," explained Tadros. Patients at risk of thrombosis or cardiac arrest will receive anticoagulants or be equipped with defibrillators. For people with thickened ventricular walls and blocked blood flow, drugs or surgery are the preferred treatment. Investigating genetics Researchers will continue to collaborate through genetics to improve the diagnostic process and therapeutic treatment. "We now know that HCM is attributable to what we call complex genetics," Tadros said. "Gene mutations are not the only cause of disease. In fact, some regions of the genome increase developmental risk." A very large cohort of patients is required to determine the major genomic region. Therefore, an international network of researchers is required. Tadros' research was located in the main centres of the Netherlands, the US, the UK, Italy, Canada, especially Toronto and Montreal. In total, the genomes of approximately 5,900 patients in HCM were examined and compared with a control group of nearly 69,000 individuals. "It's the biggest pangenomic-related study of the disease," Tadros pointed out. Canadian Research Committee on Translation Cardiovascular Genetics. After comparing genetic variation in patients with HCM in relation to the remaining population, the investigators identified 70 disease-related genomic regions. Parallel analyses were conducted in the UK and Montreal to ensure robust results. Artificial intelligence was used to measure left ventricle dimensions and function, and cardiac function in 36,000 healthy individuals were assessed based on cardiac magnetic resonance results. In addition to providing insight into the genetic determinants of normal left ventricular shape and function, additional light was passed through the genetic causes of HCM. A second phase is planned "This was the first phase. The second phase, although it will probably take years, is determining why each identified genomic region is associated with HCM," Tadros said. The same research team also developed a model to predict which individual mutant carriers are at risk of developing disease or related complications. Their findings were reported in another article published simultaneously Natural genetics. These future research will deepen scientists' understanding of illness with the aim of developing new treatments and targeting the most beneficial individuals. Tadros will reassure certain patients when there is a better way to predict HCM or anyone developing its complications, and avoid unnecessary surveillance if at high risk. ” Sources 1/ https://Google.com/ 2/ https://nouvelles.umontreal.ca/en/article/2025/03/19/demystifying-a-genetic-disease-of-the-heart-muscle/ The mention sources can contact us to remove/changing this article

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Measuring genetic disorders of the myocardium

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Measuring genetic disorders of the myocardium

The cause is almost unknown

Investigating genetics

A second phase is planned

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