Genetic Abnormalities Responsible for Dilated Cardiomyopathy

Overview

Journal Curr Cardiol Rep

Publisher Current Science

Specialty Cardiology & Vascular Diseases

Date 2000 Sep 12

PMID 10980917

Citations 6

Authors

J A Towbin

N E Bowles

Affiliations

Soon will be listed here.

Abstract

Dilated cardiomyopathy (DCM), a disorder in which left ventricular dilation and dysfunction leads to congestive heart failure, is inherited in over 30% of cases. The underlying genetic mechanisms are slowly being unraveled, with multiple genes recently identified as causing DCM in some patients. The genes identified to date appear to encode proteins that either support the cytoskeleton or interact with the cytoskeleton. When mutated, these proteins destabilize the cardiomyocyte membrane or cytoskeleton via mechanical instability or force transduction causing poor cardiac systolic function and compensatory dilation. Once the entire group of genes causing DCM (genetic heterogeneity) are identified, improvements in diagnosis and treatment are expected.

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