Hypertrophic Cardiomyopathy Center

Gene Tests for Hypertrophic Cardiomyopathy

Although hypertrophic cardiomyopathy (HCM), also known as hypertrophic obstructive cardiomyopathy (HOCM) and idiopathic hypertrophic subaortic stenosis (IHSS), has been known about for a long time, the genes responsible have only recently been discovered in the last two decades. Worldwide efforts have seen over 1,000 gene mutations in more than 15 genes reported to date. Despite this, in about half of families, the gene responsible is not amongst those currently known. In addition, in as many as half of all patients, no prior family history is found.

However, in every case of confirmed hypertrophic cardiomyopathy there is a 50/50 chance of passing the gene on to each member of the next generation, so family screening is very important. At the moment, most screening of family members is done using echocardiography and we are happy to coordinate this during your visit or liaise with physicians local to your family members. However, we also offer genetic testing to our families.

Hypertrophic Cardiomyopathy

Genetic testing is performed by outside laboratories specialized in cardiac genetics. While cost used to be high in the past, nearly all families can now get genetic testing with little or no cost. If the abnormal gene is found in one family member, then other family members find out if they will develop cardiomyopathy in the future by being tested specifically for that abnormal gene. Genetic counselors are available to help patients that are planning to have children.

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