Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

doi:10.1038/gim.2017.40

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Article

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2017

Haggerty Christopher M, James Cynthia A, Calkins Hugh, Tichnell Crystal, Leader Joseph B, Hartzel Dustin N, Nevius Christopher D, Pendergrass Sarah A, Person Thomas N, Schwartz Marci, Ritchie Marylyn D, Carey David J, Ledbetter David H, Williams Marc S, Dewey Frederick E, Lopez Alexander, Penn John, Overton John D, Reid Jeffrey G, Lebo Matthew, Mason-Suares Heather, Austin-Tse Christina, Rehm Heidi L, Delisle Brian P, Makowski Daniel J, Mehra Vishal C, Murray Michael F, Fornwalt Brandon K

Abstract excerpt

PurposeArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained.MethodsIndividuals (n = 30,716) underwent exome sequencing. Variants in PKP2, DSG2, DSC2, DSP, JUP, TMEM43, or TGFβ3 that were database-listed as pathogenic or likely...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28471438
DOI: 10.1038/gim.2017.40
PMCID: PMC5671380

Genes

DSC2
DSG2
DSP
JUP
PKP2
TMEM43

Provenance

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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