Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification

We describe the genetic basis of HCM, recent advances in genetic testing and the role of genetics in guiding risk stratification and management, both now and in the future.Recent FindingsWhile initially thought to be an exclusively Mendelian disease, we now know there are important HCM sub-groups. A proportion will have sarcomere variants as the cause of their disease, while others will have genetic variants in genes that can give rise to conditions that can mimic HCM. The role of genetics is primarily for cascade genetic testing, though there is emerging evidence of a role for prognosis and patient management.SummaryGenetic testing is a useful addition to management. Genotype may play a greater role in risk stratification, management, treatment and prognosis in future, offering improved outcomes for patients and their families with HCM.

Source: Current Cardiology Reports - January 12, 2021 Category: Cardiology Source Type: research