Heiner Jason D, Bullard-Berent Jeffrey H, Inbar Shmuel
Department of Emergency Medicine, Brooke Army Medical Center, San Antonio, TX, USA.
Pediatr Emerg Care. 2011 Nov;27(11):1065-8. doi: 10.1097/PEC.0b013e3182360606.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare adrenergically mediated arrhythmogenic disorder classically induced by exercise or emotional stress and found in structurally normal hearts. It is an important cause of cardiac syncope and sudden death in childhood. Catecholaminergic polymorphic ventricular tachycardia is a genetic cardiac channelopathy with known mutations involving genes affecting intracellular calcium regulation. We present a case of a 14-year-old boy who had cardiopulmonary arrest after an emotionally induced episode of CPVT while attempting to invite a girl to the school dance. Review of his presenting cardiac rhythm, induction of concerning ventricular arrhythmias during an exercise stress test, and genetic testing confirmed the diagnosis of CPVT. He recovered fully and was treated with β-blocker therapy and placement of an implantable cardioverter-defibrillator. In this report, we discuss this rare but important entity, including its molecular foundation, clinical presentation, basics of diagnosis, therapeutic options, and implications of genetic testing for family members. We also compare CPVT to other notable cardiomyopathic and channelopathic causes of sudden death in youth including hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia, long QT syndrome, short QT syndrome, and Brugada syndrome.
儿茶酚胺能多形性室性心动过速（CPVT）是一种罕见的肾上腺素能介导的致心律失常性疾病，典型地由运动或情绪应激诱发，见于结构正常的心脏。它是儿童心脏性晕厥和猝死的重要原因。儿茶酚胺能多形性室性心动过速是一种遗传性心脏离子通道病，已知的突变涉及影响细胞内钙调节的基因。我们报告一例14岁男孩，在试图邀请一名女孩参加学校舞会时，因情绪诱发CPVT发作后发生心肺骤停。回顾其当时的心律、运动应激试验期间诱发的可疑室性心律失常以及基因检测，确诊为CPVT。他完全康复，接受了β受体阻滞剂治疗并植入了植入式心律转复除颤器。在本报告中，我们讨论了这个罕见但重要的疾病实体，包括其分子基础、临床表现、诊断要点、治疗选择以及对家庭成员进行基因检测的意义。我们还将CPVT与其他导致年轻人猝死的显著心肌病和离子通道病病因进行了比较，包括肥厚型心肌病、致心律失常性右室发育不良、长QT综合征、短QT综合征和Brugada综合征。
