Onay Ozge Surmeli, Yildirim Isil, Beken Burcin, Erdem Sevcan, Karagoz Tevfik, Yilmaz Mustafa, Yigit Sule
Division of Neonatology, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Adnan Saygun Caddesi, Ankara, Turkey.
Pediatr Cardiol. 2013 Jan;34(1):189-93. doi: 10.1007/s00246-012-0279-7. Epub 2012 Mar 23.
Congenital long QT syndrome (LQTS) is an inherited disorder characterized by QT prolongation and polymorphic ventricular tachycardia known as torsade de pointes. The underlying cellular mechanism is prolonged ventricular repolarization caused by mutations in genes encoding cardiac ion channels or membrane adaptors. The disease can be diagnosed at any age and, very rarely, it can be diagnosed prenatally or in the neonatal period. Isolated noncompaction of the ventricular myocardium (INCVM) is defined as the presence of prominent ventricular trabeculations and deep intertrabecular recesses within the endomyocardium. This report describes a newborn baby presenting with polymorphic ventricular tachycardia whose diagnosis was LQTS and INCVM. Ventricular tachycardia did not respond to medical treatment, and a transient epicardial pacemaker was inserted surgically on his 30th day of life for atrioventricular block and bradycardia. The transient epicardial pacemaker was upgraded to an epicardial intracardiac defibrillator on his 40th day. The concomitant occurrence of INCVM, LQTS, and atrioventricular block needs to be evaluated further.
先天性长QT综合征（LQTS）是一种遗传性疾病，其特征为QT间期延长以及多形性室性心动过速，即尖端扭转型室速。潜在的细胞机制是由编码心脏离子通道或膜适配蛋白的基因突变导致的心室复极延长。该疾病可在任何年龄被诊断出来，极少数情况下，可在产前或新生儿期被诊断。孤立性心室心肌致密化不全（INCVM）被定义为心内膜内存在突出的心室小梁和深陷的小梁间隐窝。本报告描述了一名患有多形性室性心动过速的新生儿，其诊断为LQTS和INCVM。室性心动过速对药物治疗无反应，在其出生第30天时，因房室传导阻滞和心动过缓通过手术植入了一个临时心外膜起搏器。在其出生第40天时，临时心外膜起搏器升级为心外膜植入式心脏除颤器。INCVM、LQTS和房室传导阻滞的并发情况需要进一步评估。
