Analysis of desmoplakin in arrythmogenic right ventricular cardiomyopathy

Abstract

Includes bibliographical references (leaves 71-79).It has been shown that all forms of cardiomyopathy, including the dilated, hypertrophic, restrictive, and right ventricular arrhythmogenic forms, are found in African populations. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare muscle disease characterised by fibrofatty replacement of the right ventricular myocardium, leading to electrical instability and eventual heart failure. Dilated cardiomyopathy (DCM) is a disease characterised by a reduction in ventricular wall thickness which leads to reduced contractility and impaired ventricular function. Mutations that cause ARVC have been reported in five desmosomal and three non-desmosomal genes

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