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Article

Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria.

Circulation. Genomic and precision medicine - 1 Feb 2021

Costa Sarah, Medeiros-Domingo Argelia, Gasperetti Alessio, Akdis Deniz, Berger Wolfgang, James Cynthia A, Ruschitzka Frank, Brunckhorst Corinna B, Duru Firat, Saguner Ardan M

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy, which is associated with life-threatening ventricular arrhythmias. Approximately 60% of patients carry a putative disease-causing genetic variant, but interpretation of genetic test results can be challenging. The aims of this study were to systematically reclassify genetic variants in patients with ARVC and to...

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PMID: 33232181
DOI: 10.1161/CIRCGEN.120.003047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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