Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

doi:10.1016/j.jjcc.2016.09.010

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Article

Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

Journal of cardiology - 1 Jul 2017

Fujii Yusuke, Matsumoto Yuichi, Hayashi Kenshi, Ding Wei-Guang, Tomita Yukinori, Fukumoto Daisuke, Wada Yuko, Ichikawa Mari, Sonoda Keiko, Ozawa Junichi, Makiyama Takeru, Ohno Seiko, Yamagishi Masakazu, Matsuura Hiroshi, Horie Minoru, Itoh Hideki

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) presents two clinical phenotypes, congenital and acquired forms. This study aims to evaluate the genetic contribution of a KCNH2 variant for the two LQTS phenotypes. METHODS: From 1996 to 2014, genetic screening for LQTS probands was performed for five major genes: KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 and 389 probands were found to be mutation carriers. We analyzed the...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
ERG1 Potassium Channel
Electrocardiography
Female
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Heterozygote

Humans

Hypokalemia

Long QT Syndrome

Male

Middle Aged

Mutation

Source

Open in PubMed

Identifiers

PMID: 27816319
DOI: 10.1016/j.jjcc.2016.09.010

Genes

KCNH2
KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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