Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.

doi:10.1093/europace/euag001

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Article

Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.

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 Feb 2026

Janková Natálie, Král Martin, Švecová Olga, Zídková Jana, Lietava Samuel, Sladeček Stanislava, Pacherník Jiří, Pásek Michal, Novotný Tomáš, Bébarová Markéta

Abstract excerpt

BACKGROUND AND AIMS: The KCNH2 (hERG) gene encodes the Kv11.1 protein, the pore-forming subunit of the rapid delayed rectifier potassium channel, which plays a key role in cardiac repolarization. We aimed to investigate the function of two Kv11.1 variants in trans, S1021Qfs*98 and A228V, identified in a patient suffering from idiopathic ventricular fibrillation (VF). METHODS: A detailed clinical and genetic...

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PMID: 41508831
DOI: 10.1093/europace/euag001
PMCID: PMC12950810

Genes

KCNH2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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