Molecular and Clinical Aspects of Inherited Cardiomyopathies
- 1 January 1995
- journal article
- review article
- Published by Informa UK Limited in Annals of Medicine
- Vol. 27 (3), 311-317
- https://doi.org/10.3109/07853899509002583
Abstract
Hypertrophic cardiomyopathy (HCM) is phenotypically and genotypically a heterogeneous disease. Since 1989, four chromosomal loci have been identified for HCM and the genes residing on three of these have been identified as β-myosin heavy chain (β-MHC), cardiac troponin-T and α-tropomyosin. These genes code for sarcomere proteins and exhibit the same phenotype, suggesting that HCM is a disease of the sarcomere. Over 40 missense mutations and one deletion of the β-MHC gene have been identified. Similarly, missense mutations in the α-tropomyosin gene and the cardiac troponin-T gene have been identified. From genetic studies, including de novo mutations, it is established that these mutations are indeed responsible for HCM. The molecular basis of the pathogenesis of the cardiac hypertrophy appears to be a compensatory response to the primary defect. In addition to providing a definitive presymptomatic diagnosis, studies correlating β-MHC mutations with clinical prognosis suggest they have significant predictive value and can be helpful in genetic counselling and medical management. Dilated cardiomiopathies (DCM), the most common form of cardiomyopathies, have an estimated prevalence of nearly 40 per 100000 individuals, and are the most common cause for cardiac transplantation in the United States. Familial dilated cardiomyopathy is thought to account for approximately 20% of the so-called cases of idiopathic DCM.Keywords
This publication has 28 references indexed in Scilit:
- MOLECULAR GENETICS OF HYPERTROPHIC CARDIOMYOPATHYAnnual Review of Medicine, 1995
- α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomereCell, 1994
- Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.Circulation, 1994
- Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.JCI Insight, 1994
- A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.Proceedings of the National Academy of Sciences of the United States of America, 1993
- Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11Nature Genetics, 1993
- A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3Nature Genetics, 1993
- A second-generation linkage map of the human genomeNature, 1992
- Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population.Circulation, 1991
- Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1New England Journal of Medicine, 1989