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Familial hypertrophic cardiomyopathy

From SNPedia

Familial hypertrophic cardiomyopathy, also known as FHC or HCM, is a rare condition best known publicly for it's association with sudden death among young athletes. It is estimated that about 1 in 500 people have HCM and the associated thickening of the heart muscle (hypertrophy). An irregular heartbeat (arrhythmia) may lead to collapse and death during or after an athletic competition. There are usually no symptoms of a heart condition before the sudden collapse, which is also called 'sudden cardiac death' or SCD. Fortunately, SCD occurs to a very small fraction of those carrying HCM mutations.

Ordinary screening does not pick up this condition. A family history of sudden death before age 50 may be the only clue that a child or teenager needs a closer medical check before starting a sport. Most HCM appears to be inherited in a dominant fashion. Family members who carry the same genes may not have cardiac hypertrophy; those who do have hypertrophy can be treated clinically, and they will probably be advised not to participate in aerobic sports. Some cardiologists recommend that donors be tested for cardiovascular diseases such as HCM before their sperm is used for in vitro fertilization. [PMID 19843903]

Eighteen genes are commonly associated with HCM, among them the following [1],[PMID 25611685]: