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Article

The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.

Cardiovascular research - 30 Apr 2024

Moreno-Manuel Ana I, Macías Álvaro, Cruz Francisco M, Gutiérrez Lilian K, Martínez Fernando, González-Guerra Andrés, Martínez Carrascoso Isabel, Bermúdez-Jimenez Francisco José, Sánchez-Pérez Patricia, Vera-Pedrosa María Linarejos, Ruiz-Robles Juan Manuel, Bernal Juan A, Jalife José

Abstract excerpt

AIMS: Short QT syndrome type 3 (SQTS3) is a rare arrhythmogenic disease caused by gain-of-function mutations in KCNJ2, the gene coding the inward rectifier potassium channel Kir2.1. We used a multidisciplinary approach and investigated arrhythmogenic mechanisms in an in-vivo model of de-novo mutation Kir2.1E299V identified in a patient presenting an extremely abbreviated QT interval and paroxysmal atrial...

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Source

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Identifiers

PMID: 38261726
DOI: 10.1093/cvr/cvae019
PMCID: PMC11060485

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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