A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life

Hypertrophic Cardiomyopathy (HCM) is one of the most common inherited cardiac disorders with a prevalence of 1:500. It is characterized by unexplained left ventricular hypertrophy (from 13 mm to more than 35 mm) that develops in the absence of an underlying systemic condition or other cardiac disease. The most serious manifestations of HCM are sudden death and progressive heart failure. The majority of causal mutations are identified in genes encoding proteins of the sarcomere.

In this study we report the identification of a founder mutation in MYBPC3 gene in 20% of our Italian HCM patients. We found that the probability to develop the disease in mutation carriers is higher between 30 and 40 years of age, with a major risk if they are men. Probands carrying the founder mutation showed a higher prevalence of non-sustained ventricular tachycardia and ICD implantation with a significantly reduced survival after the fourth decade of life, when compared with patients negative for MYBPC3 mutations. (By Dr. Alessandra Rampazzo, http://jmg.bmj.com/content/52/5/338 )

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