Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy is a common genetic heart condition characterized by thickened heart muscle, particularly in the left ventricle, leading to cardiac dysfunction. It affects up to 1 in 500 individuals and is a significant cause of sudden cardiac death1.
Impact of Genes
HCM is primarily an autosomal dominant condition caused by mutations in various sarcomere genes. Up to 40% of cases are attributed to rare genetic mutations, with 8 sarcomeric genes strongly linked to the disease. Genetic testing can identify these mutations, aiding in diagnosis and family screening12.
Ways to Identify Problems
Identifying issues in HCM involves clinical evaluation, echocardiography, and genetic testing. Symptoms like chest pain, palpitations, or shortness of breath, alongside family history, can indicate the presence of HCM. Genetic testing can reveal pathogenic variants, providing a definitive diagnosis2.
Ways to Improve
Management of HCM includes lifestyle modifications, medications, and in some cases, surgical interventions. Advances in genetic research may lead to targeted therapies that address the specific mutations causing HCM, improving patient outcomes2.
Did You Know?
A polygenic risk score, which includes common genetic variants, along with rare variant carrier status, can enhance the prediction of HCM when combined with clinical factors. This integrated approach may improve prevention strategies for HCM1.
