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

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 li...

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Veröffentlicht in:Canadian journal of cardiology 2017-04, Vol.33 (4), p.554.e5-554.e7
Hauptverfasser: Kimura, Mai, Kohno, Takashi, Aizawa, Yoshiyasu, Inohara, Taku, Shiraishi, Yasuyuki, Katsumata, Yoshinori, Egashira, Toru, Fukushima, Hiroyuki, Kosaki, Kenjiro, Fukuda, Keiichi
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Sprache:eng
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