ARVD6

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Arrhythmogenic right ventricular dysplasia Microchapters

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Differentiating Arrhythmogenic right ventricular dysplasia from other Diseases

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

Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 6; arrhythmogenic right ventricular cardiomyopathy 6; ARVC6

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 (604401), is associated with a mutation in the chromosome 10p14-p12 region.[1]

Epidemiology and Demographics

Natural History, Complications, Prognosis

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References

  1. Li D, Ahmad F, Gardner MJ et-al. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am. J. Hum. Genet. 2000;66 (1): 148-56. doi:10.1086/302713 - Free text at pubmed - Pubmed citation

CME Category::Cardiology