Synonyms
HCM; Heart hypertrophy
Definition and Characteristics
Hypertrophic cardiomyopathy (HCM) is the most common hereditary cardiac condition and transmitted by autosomal dominant inheritance. It is characterized by unexplained thickening of the myocardium and is a frequent cause of sudden cardiac death in young individuals. However, the disease expression is very heterogeneous even among related individuals and penetrance is incomplete. Disease presentation may occur at any age. In general, no specific genotype-phenotype correlation is apparent [1,2].
Prevalence
The prevalence of HCM is about 0.2% and similar among different racial groups based on large population studies comprising more than 16,000 subjects [3].
Genes
HCM is primarily a disease of the cardiac sarcomere. Eight disease genes have been identified and mutation analyses of these genes in large cohorts of HCM patients have revealed a mutation in 50–60% of cases [4]. Recently mutations in genes encoding Z-disk proteins...
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References
Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE et al. (2003) American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. Eur Heart J 24:1965–1991
Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC et al. (2004) Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 44:2315–2325
Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H et al. (2004) Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med 116:14–18
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C et al. (2003) Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107:2227–2232
Bos JM, Poley RN, Ny M, Tester DJ, Xu X, Vatta M et al. (2006) Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab 88:78–85
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Mogensen, J. (2009). Hypertrophic Cardiomyopathy. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_876
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DOI: https://doi.org/10.1007/978-3-540-29676-8_876
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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