ARVD12

Arrhythmogenic right ventricular dysplasia Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 12; arrhythmogenic right ventricular cardiomyopathy 12; ARVC12

Overview

Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

Pathophysiology

The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

Genetics

This variant (611528) is associated with a mutation in the JUP gene (173325) on chromosome 17q21.