Takehara N, Makita N, Kawabe J, Sato N, Kawamura Y, Kitabatake A, Kikuchi K
First Department of Medicine, Asahikawa Medical College, Asahikawa, Japan.
J Intern Med. 2004 Jan;255(1):137-42. doi: 10.1046/j.0954-6820.2003.01247.x.
Mutations in the cardiac Na+ channel gene SCN5A are responsible for multiple lethal ventricular arrhythmias including Brugada syndrome and congenital long QT syndrome. Here we report a case of Brugada syndrome with ST elevation in the right precordial and inferior leads accompanied by atrial standstill and spontaneous ventricular fibrillation. Atrial standstill and J wave elevation were provoked by procainamide. Genetic analysis revealed a missense mutation (R367H) in SCN5A. The resultant mutant Na+ channel was nonfunctional when expressed heterologously in Xenopus oocytes. Our study suggests that genetic defects in SCN5A may be associated with atrial standstill in combination with ventricular arrhythmias.
心脏钠离子通道基因SCN5A的突变是多种致命性室性心律失常的病因，包括 Brugada综合征和先天性长QT综合征。本文报道1例Brugada综合征患者，其右胸前导联和下壁导联ST段抬高，伴有心房停搏和自发性心室颤动。普鲁卡因胺可诱发心房停搏和J波抬高。基因分析显示SCN5A存在错义突变（R367H）。在非洲爪蟾卵母细胞中异源表达时，所产生的突变型钠离子通道无功能。我们的研究提示，SCN5A的基因缺陷可能与心房停搏合并室性心律失常有关。
