International Journal of Cardiovascular Sciences. 01/May/2018;31(3):312-5.
Hypertrophic Cardiomyopathy, All Phenotypes in one
DOI: 10.5935/2359-4802.20180016
Introduction
Hypertrophic cardiomyopathy (HCM) is an intrinsic myocardial disorder characterized by cardiac hypertrophy (wall thickness ≥ 15 mm), that is not explained by conditions of pressure overload (eg, hypertension, severe aortic stenosis). HCM is the most common genetic primary cardiomyopathy, with a prevalence estimated to be about one in 500 adults in the general population.
More than 450 mutations have been identified in the 20 genes that cause different phenotypes. In most cases, HCM is associated with sarcomere protein gene mutations, and exhibits multiple phenotypic expressions. We present a case that combines all phenotypes.
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Hypertrophic Cardiomyopathy, All Phenotypes in one
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