SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities
SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities
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SCN5A 突变与心室颤动、早期复极和隐匿性心肌异常相关
DOI：
10.1016/j.ijcard.2012.10.074
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Makita N
中科院分区：
文献类型：
--
作者：
Watanabe H;Ohkubo K;Watanabe I;Matsuyama TA;Ishibashi-Ueda H;Yagihara N;Shimizu W;Horie M;Minamino T;Makita N
越来越多的证据表明下外侧导联的早期复极或 J 波与心室颤动和心源性猝死的风险增加相关[1]。 ATP 敏感钾通道基因 KCNJ8 和 L 型钙通道基因（包括 CACNA1C、CACNB2B 和 CACNA2D1）的突变与早期复极的特发性心室颤动相关 [2, 3]。此外，我们最近在下壁导联和右心前导联早期复极的特发性心室颤动患者中发现了 SCN5A 的突变，SCN5A 编码主要的心脏钠通道 α 亚基 [4]。 SCN5A 突变也与心肌病和隐匿性心肌异常相关[5-7]。在这里，我们描述了一个 SCN5A 突变的病例，该病例下导联出现早期复极，但右心前导联未出现早期复极、心室颤动和结构性心肌改变。
There is increasing evidence that early repolarization or J-wave in the inferolateral leads is associated with an increased risk of ventricular fibrillation and sudden cardiac death [1]. Mutations in ATP-sensitive potassium channel gene KCNJ8 and L-type calcium channel genes including CACNA1C, CACNB2B, and CACNA2D1 have been associated with idiopathic ventricular fibrillation with early repolarization [2, 3]. Furthermore, we have recently identified mutations in SCN5A, which encodes the predominant cardiac sodium channel α subunit, in patients with idiopathic ventricular fibrillation who had early repolarization in the inferior leads and right precordial leads [4]. Mutations in SCN5A have also been associated with cardiomyopathy and concealed myocardial abnormalities [5–7]. Here, we describe a case with a mutation in SCN5A who had early repolarization in the inferior leads but not in the right precordial leads, ventricular fibrillation, and structural myocardial alteration.