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Genetic abnormalities responsible for dilated cardiomyopathy

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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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Authors and Affiliations

  1. Pediatric Cardiology, Baylor College of Medicine, 1 Baylor Plaza, Room 333E, 77030, Houston, TX, USA

    Jeffrey A. Towbin MD & Neil E. Bowles PhD

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  1. Jeffrey A. Towbin MD
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  2. Neil E. Bowles PhD
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Towbin, J.A., Bowles, N.E. Genetic abnormalities responsible for dilated cardiomyopathy. Curr Cardiol Rep 2, 475–480 (2000). https://doi.org/10.1007/s11886-000-0063-9

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  • DOI: https://doi.org/10.1007/s11886-000-0063-9

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