Gene Tests for Hypertrophic Cardiomyopathy
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Although hypertrophic cardiomyopathy (HCM), also known as hypertrophic obstructive cardiomyopathy (HOCM) and idiopathic hypertrophic subaortic stenosis (IHSS), has been known about for many years, the genes responsible have only recently been discovered. Worldwide efforts have seen over 400 gene mutations in more than 10 genes reported to date. Despite this, in a significant minority 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 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 gene testing to our families.
Sometimes it can be done as part of our research studies (in which case, it is free) but other times, we will need to send your blood to a commercial laboratory. This test is not always covered by insurance and can be expensive. However, if the abnormal gene is confirmed in one family member, then a more focused and cheaper gene test can be done in others. Geneticists are available to help patients that are planning to have children.
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