Hypertrophic Cardiomyopathy (HCM) is a genetic heart condition characterized by the abnormal thickening of the heart muscle, particularly in the walls of the left ventricle, the chamber responsible for pumping oxygenated blood to the body. This thickening can make it harder for the heart to pump blood efficiently, leading to symptoms such as shortness of breath, chest pain, dizziness, and, in some cases, fainting. In more severe cases, HCM can lead to life-threatening arrhythmias or sudden cardiac arrest, especially in young athletes or physically active individuals.
HCM is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene from either parent is sufficient to pass on the condition. Early detection through genetic testing and imaging studies is crucial for managing HCM, as treatment options, including medications, lifestyle modifications, and sometimes surgical procedures, can help control symptoms and reduce the risk of complications. Genetic testing also plays an essential role in identifying family members who may carry the same mutation, allowing for preventive care and regular monitoring to catch the disease in its early stages.
Genetic testing plays a pivotal role in the diagnosis and management of Hypertrophic Cardiomyopathy (HCM). Since HCM is often caused by mutations in specific genes that regulate heart muscle growth, identifying these mutations through genetic testing helps confirm a diagnosis, even in individuals who may not yet show symptoms. Early genetic diagnosis allows for timely interventions and personalized treatment plans, which can include lifestyle modifications, medications, or surgical procedures, depending on the severity of the condition.
Beyond confirming a diagnosis, genetic testing is vital for identifying at-risk family members, as HCM is inherited in an autosomal dominant pattern. Family members who carry the mutation but are asymptomatic can be closely monitored through regular cardiac evaluations to detect early changes in heart structure or function. This proactive approach helps reduce the risk of sudden cardiac arrest and other complications, ensuring that those with HCM receive appropriate care and preventative treatment based on their genetic profile.
What is the Program?
Sponsored by Tenaya Therapeutics, this program offers genetic testing and counseling at no cost for adults 18-65 years of age, with a clinical diagnosis of hypertrophic cardiomyopathy (HCM) who remain symptomatic despite current therapies. The program analyzes a panel of 56 genes known to be associated with HCM, to evaluate for an underlying genetic cause of disease. Approximately 60% of all cases of HCMare due to variants in genes that encode heart muscle proteins. Variants in the MYH7 and MYBPC3 genes are the most common genetic cause of HCM. This program is available within the United States and the test must be ordered by a qualified healthcare provider.
Collect a specimen in the collection tube. For information about ordering specimen kits, see Specimen Collection and Shipping section
Tenaya Therapeutics is a clinical-stage biotechnology company committed to a bold mission: to discover, develop and deliver potentially curative therapies that address the underlying drivers of heart disease. Leveraging its integrated and interrelated Gene Therapy, Cellular Regeneration and Precision Medicine platforms and proprietary core capabilities, the company is advancing a pipeline of novel therapies with diverse treatment modalities for rare genetic cardiovascular disorders and more prevalent heart conditions. Tenaya’s most advanced candidates include TN-201, a gene therapy for MYBPC3-associated hypertrophic cardiomyopathy (HCM), TN-401, a gene therapy for PKP2-associated arrhythmogenic right ventricular cardiomyopathy (ARVC), and TN-301, a small molecule HDAC6 inhibitor being initially developed for heart failure with preserved ejection fraction (HFpEF). Tenaya also has multiple early-stage programs progressing through preclinical development. For more information, visit www.tenayatherapeutics.com.
