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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...

Topics

Adult
Arrhythmogenic Right Ventricular Dysplasia
Desmoglein 2
Desmoplakins
Desmosomes
Down-Regulation
Female
Genetic Variation
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Plakophilins

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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 31 Aug 2026.

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