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Article

Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

BMC medical genetics - 8 Dec 2017

König Eva, Volpato Claudia Béu, Motta Benedetta Maria, Blankenburg Hagen, Picard Anne, Pramstaller Peter, Casella Michela, Rauhe Werner, Pompilio Giulio, Meraviglia Viviana, Domingues Francisco S, Sommariva Elena, Rossini Alessandra

Abstract excerpt

BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental...

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Identifiers

PMID: 29221435
DOI: 10.1186/s12881-017-0503-7
PMCID: PMC5723071

Genes

PKP2
CTBP2
DAG1
TCF25
TTN

Provenance

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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