Blich Miry, Khoury Asaad, Suleiman Mahmoud, Lorber Avraham, Gepstein Lior, Boulous Monther
Inherited Arrhythmia Clinic.
Division of Pacing and Electrophysiology, Rambam Health Care Campus, Technion Medical School.
Int Heart J. 2019 Jul 27;60(4):979-982. doi: 10.1536/ihj.18-705. Epub 2019 Jun 28.
Congenital long QT syndrome (LQTS) is a cardiac channelopathy that leads to the prolongation of the QT interval. This prolongation can lead to ventricular tachyarrhythmia, syncope, and sudden cardiac death. There are various types of LQTS. Treatment of LQT1 and LQT2 is mainly based on antiadrenergic therapy. LQT3, on the other hand, is a result of a mutation of the SCN5A gene, which encodes the sodium channels. In this type, patients are sensitive to vagal stimuli and episodes tend to occur at rest. Sodium channel blocking compounds, such as ranolazine, mexiletine, and flecainide, have been found to be effective in selective mutations.In this case report, we report the case of a child with congenital LQT3 (V411M) who presented first with sudden cardiac death and three weeks later with an implantable cardioverter defibrillator storm. Knowing the specific mutation and understanding the mechanism at the molecular level through an in vitro study yielded a clinically meaningful result. The patient's arrhythmia burden was totally eliminated following successful treatment with flecainide.
先天性长QT综合征（LQTS）是一种导致QT间期延长的心脏离子通道病。这种延长可导致室性快速心律失常、晕厥和心源性猝死。LQTS有多种类型。LQT1和LQT2的治疗主要基于抗肾上腺素能治疗。另一方面，LQT3是SCN5A基因突变的结果，该基因编码钠通道。在这种类型中，患者对迷走神经刺激敏感，发作往往发生在休息时。已发现钠通道阻滞剂化合物，如雷诺嗪、美西律和氟卡尼，对选择性突变有效。在本病例报告中，我们报告了一名先天性LQT3（V411M）患儿的病例，该患儿首次表现为心源性猝死，三周后出现植入式心律转复除颤器风暴。通过体外研究了解特定突变并在分子水平上理解其机制产生了具有临床意义的结果。使用氟卡尼成功治疗后，患者的心律失常负荷完全消除。
