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Article

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Human mutation - 1 Sept 2009

van der Zwaag Paul A, Jongbloed Jan D H, van den Berg Maarten P, van der Smagt Jasper J, Jongbloed Roselie, Bikker Hennie, Hofstra Robert M W, van Tintelen J Peter

Abstract excerpt

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathogenicity of variants is not always clear. Therefore, we created an online database (www.arvcdatabase.info), providing...

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Identifiers

PMID: 19569224
DOI: 10.1002/humu.21064

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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