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Hypertrophic Cardiomyopathy (HCM)
Hypertrophic cardiomyopathy (HCM) is characterized by myocardial hypertrophy in the absence of other cardiac or systemic causes. HCM is most frequently caused by mutations in genes encoding for the sarcomeric proteins in the cardiac muscle leading to myocyte disarray, a hallmark feature of HCM .1,2 Less commonly, ventricular hypertrophy is a presenting feature of genetic systemic disorders, such as Danon disease, Fabry disease, or mitochondrial cardiomyopathy1. HCM has a variable clinical presentation; ranging from asymptomatic to sudden death. The prevalence of HCM in the general population is 0.2% or 1/500, affecting males and females equally.
The initial presentation of HCM can be as benign as a heart murmur noted on a physical examination, while other patients may present with symptoms of palpitations, chest pain, heart failure or syncope. HCM is most commonly characterized by left ventricular hypertrophy (LVH) on echocardiogram.