Arrhythmogenic right ventricular cardiomyopathy (ARVC) – pathophysiology, investigations, treatment

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“Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable, under-recognised heart muscle disorder that predominately affect the right ventricle increasing the risk of arrhythmias.
Progressive loss of right ventricular myocardium and its replacement by fibrofatty tissue is the pathological hallmark of the disease.

Mutations in genes encoding desmosomal proteins (which are important in cell to cell adhesion) play a key role the pathogenesis. Issues with cell to cell adhesion as the pathological basis of ARVC was first described in patient with Naxos disease who had ARVC, palmoplantar keratosis and wooly hair.”

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