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Article

Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.

Pediatric cardiology - 1 Oct 2014

Perera Jennifer L, Johnson Nicole M, Judge Daniel P, Crosson Jane E

Abstract excerpt

To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart diseases (CHDs). The most commonly reported phenotypes are secundum atrial septal defect (ASD) and atrioventricular conduction disease (AVCD). Reports of sudden cardiac death (SCD) have been attributed to progressive conduction disease preventable with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24880466
DOI: 10.1007/s00246-014-0917-3

Genes

SCD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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