Molecular genetics of hypertrophic cardiomyopathy

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

Hypertrophic cardiomyopathy (HCM), a serious and often tragic disorder, is characterized by hypertrophy of the interventricular septum and left ventricular wall, hypercontractile systolic function with diastolic dysfunction, and in some cases, left ventricular outflow tract obstruction. On histopathologic examination, myofiber disarray is common. The genes for familial cases of hypertrophic cardiomyopathy are known to encode members of the sarcomere and to date nine genes have been identified (b-myosin heavy chain, a-tropomyosin, cardiac troponin T, troponin I, myosin binding protein-C, regulatory myosin light chain, essential myosin light chain, cardiac actin, and titin) for this genetically and clinically heterogeneous disease. In this review the genetic basis of HCM is discussed.

Original languageEnglish (US)
Pages (from-to)134-140
Number of pages7
JournalCurrent Cardiology Reports
Volume2
Issue number2
DOIs
StatePublished - Dec 1 2000
Externally publishedYes

Fingerprint

Myosin Light Chains
Hypertrophic Cardiomyopathy
Molecular Biology
Familial Hypertrophic Cardiomyopathy
Connectin
Ventricular Outflow Obstruction
Ventricular Septum
Sarcomeres
Tropomyosin
Troponin T
Troponin I
Myosin Heavy Chains
Hypertrophy
Genes
Actins
myosin-binding protein C

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Molecular genetics of hypertrophic cardiomyopathy. / Towbin, Jeffrey.

In: Current Cardiology Reports, Vol. 2, No. 2, 01.12.2000, p. 134-140.

Research output: Contribution to journalArticle

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