Current Cardiovascular Risk Reports

, Volume 2, Issue 6, pp 468–475

The genetic basis of cardiomyopathy


DOI: 10.1007/s12170-008-0083-3

Cite this article as:
Marian, A.J. Curr Cardio Risk Rep (2008) 2: 468. doi:10.1007/s12170-008-0083-3


Cardiomyopathies are the primary disorders of cardiac myocytes, and their cause is usually genetic. The three common forms are hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). Mutations in sarcomeric proteins typically cause HCM and, less commonly, DCM. Mutations in cytoskeletal proteins cause DCM, and those in desmosomal proteins cause ARVC. The pathways from mutations to the clinical phenotype could be categorized into three stages of initial functional defects leading to expression and activation of molecular events that mediate development of morphologic and structural phenotypes. Advances in understanding the molecular genetics and pathogenesis of cardiomyopathies could provide the opportunity for preclinical diagnosis and interventions to prevent, attenuate, or reverse the evolving phenotypes.

Copyright information

© Current Medicine Group LLC 2008

Authors and Affiliations

  1. 1.Brown Foundation Institute of Molecular MedicineThe University of Texas Health Sciences CenterHoustonUSA

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