HCM Genetic Counseling

Overview of Familial HCM

HCM is often a familial disease (occurring in one or more other family members). This is known as dominant transmission in which one-half of the relatives in each generation can be affected due to gene mutations found in the contracting elements of the heart (sarcomere).

Males and females are affected equally. However, many HCM families do not appear to be “genetic,” when only one relative has the disease, suggesting there are other non-genetic causes. These potential causes are under investigation but are most likely environmental in some currently undefined way.

Expert Multi-Disciplinary Care

The multi-disciplinary Lahey HCM team brings together a combination of specialists who are prepared to collaboratively manage your care and provide the best outcome.

Since HCM is often genetically transmitted, we recommend screening of family members with imaging (Echo and MRI). We may also use laboratory genetic testing to identify those relatives with a disease-causing mutation who could develop overt HCM in the future. We collect blood samples or swabs from the inside of the cheek with results back in 4-6 weeks. Genetic testing does not determine if family members will have the same management or clinical course; we test solely to identify who may be at risk for developing HCM.

Your HCM cardiologist will provide comprehensive genetic counseling and answer any questions you may have. We will discuss with you the benefits of genetic testing as well as any potential financial, psychological, and insurance limitations.