Kimura Mai, Kohno Takashi, Aizawa Yoshiyasu, Inohara Taku, Shiraishi Yasuyuki, Katsumata Yoshinori, Egashira Toru, Fukushima Hiroyuki, Kosaki Kenjiro, Fukuda Keiichi
Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
Can J Cardiol. 2017 Apr;33(4):554.e5-554.e7. doi: 10.1016/j.cjca.2016.10.010. Epub 2016 Oct 20.
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.
一名患有3型长QT综合征（LQT3）的16岁男孩因扩张型心肌病（DCM）导致的失代偿性心力衰竭入院。他的哥哥也被诊断出患有LQT3和DCM。一项全面的基因分析在这两名受影响的在世家庭成员中发现了一种新的SCN5A错义突变——p.Q371E。对于携带这种新的SCN5A错义突变的病例，怀疑DCM和LQT3（根据以往文章这很罕见）共存可能很重要。
