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Article

Congenital long QT syndrome with compound mutations in the KCNH2 gene.

Heart and vessels - 1 Jul 2014

Bando Sachiko, Soeki Takeshi, Matsuura Tomomi, Niki Toshiyuki, Ise Takayuki, Yamaguchi Koji, Taketani Yoshio, Iwase Takashi, Yamada Hirotsugu, Wakatsuki Tetsuzo, Akaike Masashi, Aiba Takeshi, Shimizu Wataru, Sata Masataka

Abstract excerpt

Congenital long QT syndrome is a genetic disorder encompassing a family of mutations that can lead to aberrant ventricular electrical activity. We report on two brothers with long QT syndrome caused by compound mutations in the KCNH2 gene inherited from parents who had no prolonged QT interval on electrocardiography. The proband had syncope, and his elder brother suffered from ventricular fibrillation. Genetic...

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Source

Identifiers

PMID: 24057343
DOI: 10.1007/s00380-013-0406-2

Genes

KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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