Hypertrophic Cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder characterized by cardiac hypertrophy. Discovery of the genetic basis of HCM has had a major impact on understanding disease pathogenesis, diagnosis and clinical management. Future studies will further elucidate these areas and improve our understanding of cardiac biology and function.

Keywords: cardiomyopathy; hypertrophy; deoxyribonucleic acid; molecular genetics

Figure 1.

Hypertrophic cardiomyopathy. Postmortem examination of the heart from an individual with hypertrophic cardiomyopathy demonstrating massive asymmetric left ventricular hypertrophy, with associated reduction in left ventricular cavity size (a), compared with a normal heart (b).

Figure 2.

Survival in hypertrophic cardiomyopathy caused by different gene defects. Kaplan–Meier survival curves showing normal life expectancy in patients with hypertrophic cardiomyopathy due to β cardiac myosin heavy chain (myosin) mutation Val606Met or cardiac myosin‐binding protein C (MyBP‐C) mutation InsG791. In contrast, survival is markedly reduced in hypertrophic cardiomyopathy caused by β cardiac myosin heavy chain mutation Arg403Gln.

Figure 3.

From gene mutation to clinical disease. Gene mutations cause clinical disease. Two important questions remain the focus of research now and in the future: what is the signaling pathway leading from a gene defect to the clinical phenotype, and secondly, how is this process modified by either genetic and/or environmental factors, for example exercise, diet? SCD: suddern cardiac death; ICD: implantable cardioverter defibrillator.

Figure 4.

Management of HCM. Flow diagram of currently available management strategies in patients with hypertrophic cardiomyopathy. Important management indicators include severity of symptoms, risk stratification for sudden death and the presence or absence of left ventricular outflow tract obstruction.

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References

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Further Reading

Marian AJ and Roberts R (2001) The molecular genetic basis for hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology 33: 655–670.

Maron BJ (2002) Hypertrophic cardiomyopathy: a systematic review. Journal of the American Medical Association 287: 1308–1320.

Seidman CE and Seidman JG (1998) Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Research in Cardiology 93: 13–16.

Seidman JG and Seidman CE (2001) The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104: 557–567.

Semsarian C and Seidman CE (2001) Molecular medicine in the 21st century. Internal Medicine Journal 31: 53–59.

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How to Cite close
Semsarian, Christopher, and Chung, Man‐Wei(Jan 2006) Hypertrophic Cardiomyopathy. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006098]