Arrhythmogenic right ventricular dysplasia overview
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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]
Overview
Arrhythmogenic right ventricular dysplasia (ARVD, also known as arrhythmogenic right ventricular cardiomyopathy or ARVC) 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.
ARVD is an important cause of ventricular arrhythmias in children and young adults. It is seen predominantly in males, and 30-50% of cases have a familial distribution. It is usually inherited in an autosomal dominant pattern, with variable expression. The penetrance is 20-35% in general, but significantly higher in Italy. Seven gene loci have been implicated in ARVD. However, about 50% of families that express ARVD that undergo genetic screening do not show linkage with any of the known chromosomal loci. It is unclear whether the pathogenesis varies with the different loci involved. A standard genetic screening test is not available.
Naxos Disease
Naxos disease is an autosomal recessive variant of ARVD, described initially on the Greek island of Naxos. There, the penetrance is >90%. It involves the gene that codes for plakoglobin (a protein that is involved in cellular adhesion), on chromosome 17p. Naxos disease is described as a triad of ARVD, palmoplantar keratosis, and wooly hair. The signs of Naxos disease are more severe than with autosomal dominant ARVD.