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

doi:10.1016/j.cjca.2016.10.010

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 journal › Article › peer-review

4 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 language	English
Pages (from-to)	554.e5-554.e7
Journal	Canadian Journal of Cardiology
Volume	33
Issue number	4
DOIs	https://doi.org/10.1016/j.cjca.2016.10.010
Publication status	Published - 2017 Apr 1

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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

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.",

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AU - Kimura, Mai

AU - Kohno, Takashi

AU - Aizawa, Yoshiyasu

AU - Inohara, Taku

AU - Shiraishi, Yasuyuki

AU - Katsumata, Yoshinori

AU - Egashira, Toru

AU - Fukushima, Hiroyuki

AU - Kosaki, Kenjiro

AU - Fukuda, Keiichi

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AB - 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.

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

Abstract

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