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Article

[Homozygotous mutation of the SCN5A gene responsible for congenital long QT syndrome with 2/1 atrioventricular block].

Archives des maladies du coeur et des vaisseaux - 1 May 2002

Lupoglazoff J M, Denjoy I, Cheav T, Berthet M, Extramiana F, Cauchemez B, Villain E, Leenhardt A, Guicheney P

Abstract excerpt

Long QT syndrome is characterized by a prolongation of the QT interval on the surface ECG. This clinically and genetically heterogeneous cardiac disease is potentially lethal due to ventricular polymorphic tachyarrhythmias leading to syncope or sudden death. It is transmitted according to different mendelian modes due to mutations in several genes coding for cardiac ion channels. Heterozygous mutations in KCNQ1,...

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Source

Identifiers

PMID: 12085742

Genes

KCNQ1

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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