A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction

Mai Kimura, Takashi Kohno, Yoshiyasu Aizawa, Taku Inohara, Yasuyuki Shiraishi, Yoshinori Katsumata, Toru Egashira, Hiroyuki Fukushima, Kenjiro Kosaki, Keiichi Fukuda

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

A 16-year-old boy with long QT syndrome type 3 (LQT3) was admitted for decompensated heart failure resulting from dilated cardiomyopathy (DCM). His brother was also diagnosed with LQT3 and DCM. A comprehensive genetic analysis identified a novel SCN5A missense mutation—p.Q371E—in these 2 affected living family members. It might be important to suspect the coexistence of DCM and LQT3 (which is rare according to previous articles) in cases with this novel SCN5A missense mutation.

Original languageEnglish
Pages (from-to)554.e5-554.e7
JournalCanadian Journal of Cardiology
Volume33
Issue number4
DOIs
Publication statusPublished - 2017 Apr 1

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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