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Genetics and disease of ventricular muscle.

Authors
  • Fatkin, Diane
  • Seidman, Christine E
  • Seidman, Jonathan G
Type
Published Article
Journal
Cold Spring Harbor Perspectives in Medicine
Publisher
Cold Spring Harbor Laboratory
Publication Date
Jan 01, 2014
Volume
4
Issue
1
Identifiers
DOI: 10.1101/cshperspect.a021063
PMID: 24384818
Source
Medline
License
Unknown

Abstract

Cardiomyopathies are a heterogeneous group of heart muscle diseases associated with heart failure, arrhythmias, and death. Genetic variation has a critical role in the pathogenesis of cardiomyopathies, and numerous single-gene mutations have been associated with distinctive cardiomyopathy phenotypes. Contemporaneously with these discoveries, there has been enormous growth of genome-wide sequencing studies in large populations, data that show extensive genomic variation within every individual. The considerable allelic diversity in cardiomyopathy genes and in genes predicted to impact clinical expression of disease mutations indicates the need for a more nuanced interpretation of single-gene mutation in cardiomyopathies. These findings highlight the need to find new ways to interpret the functional significance of suites of genetic variants, as well as the need for new disease models that take global genetic variant burdens, epigenetic factors, and cardiac environmental factors into account.

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