Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.

doi:10.1093/europace/euae136

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Article

Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 3 Jun 2024

Morgat Charles, Fressart Véronique, Porretta Alessandra Pia, Neyroud Nathalie, Messali Anne, Temmar Yassine, Algalarrondo Vincent, Surget Elodie, Bloch Adrien, Leenhardt Antoine, Denjoy Isabelle, Extramiana Fabrice

Abstract excerpt

AIMS: KCNQ1 mutations cause QTc prolongation increasing life-threatening arrhythmias risks. Heterozygous mutations [type 1 long QT syndrome (LQT1)] are common. Homozygous KCNQ1 mutations cause type 1 Jervell and Lange-Nielsen syndrome (JLNS) with deafness and higher sudden cardiac death risk. KCNQ1 variants causing JLNS or LQT1 might have distinct phenotypic expressions in heterozygous patients. The aim of this...

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Identifiers

PMID: 38825991
DOI: 10.1093/europace/euae136
PMCID: PMC11203906

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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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