Key result
Familial hypertrophic cardiomyopathy affects ~0.2% of young adults via autosomal-dominant contractile protein mutations.
Why the study?
Familial hypertrophic cardiomyopathy is a heterogeneous disease caused by autosomal-dominant sarcomeric mutations with variable phenotypes and no specific therapy available.
Provides an overview of the pathophysiology, prevalence, and clinical presentation of familial hypertrophic cardiomyopathy.
Familial hypertrophic cardiomyopathy (FHC) is aheterogeneous disease with variable phenotypes causedby autosomal-dominant mutations in one of severalcontractile proteins (Roberts and Sigwart 2001a). Themutations typically lead to myocyte hypertrophy,myocellular/myofibrillar disarray, increased interstitialcollagen, and hypertrophy in small arteries (Wigle et al.1995). FHC is estimated to have a prevalence of about0.2% in the population of young adults as recognized byechocardiography (Maron et al. 1995) and is the mostcommon cause of sudden death in adolescents and youngadults, especially in athletes. Clinical symptoms can include dyspnea, palpitations, chest pain, sudden death, orsevere heart failure, whereas many other patients remainasymptomatic (Maron 1997). As of yet, no specific therapy is available for this disease, with only symptomatictreatments for aspects of the syndrome (Roberts and Sigwart 2001b)...
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Maass et al. (2002) conducted a review in Familial hypertrophic cardiomyopathy. Familial hypertrophic cardiomyopathy is a heterogeneous disease caused by autosomal-dominant mutations in contractile proteins, with a prevalence of about 0.2% in young adults.
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