ARVD8

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 8; arrhythmogenic right ventricular cardiomyopathy 8; ARVC8

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 (607450) is associated with a mutation in the DSP gene (125647) on chromosome 6p24.^[1]

Epidemiology and Demographics

Natural History, Complications, Prognosis

Diagnosis

Symptoms

Electrocardiogram

Echocardiogram

MRI

References

↑ Rampazzo A, Nava A, Malacrida S et-al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2002;71 (5): 1200-6. doi:10.1086/344208 – Free text at pubmed – Pubmed citation

CME Category::Cardiology

[1] Rampazzo A, Nava A, Malacrida S et-al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2002;71 (5): 1200-6. doi:10.1086/344208 – Free text at pubmed – Pubmed citation

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