儿茶酚胺敏感性多形性室性心动过速机制及诊治进展  

Progress in mechanisms,diagnosis and therapeutic management of catecholaminergic polymorphic ventricular tachycardia

作　　者：严格 侯翠兰 肖婷婷 YAN Ge;HOU Cuilan;XIAO Tingting(Department of Cardiology,Shanghai Children’s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200062,China)

机构地区：[1]上海交通大学医学院附属儿童医院、上海市儿童医院心内科,上海200062

出　　处：《临床儿科杂志》2025年第3期220-225,共6页Journal of Clinical Pediatrics

基　　金：国家自然科学基金面上项目(No.82370296)。

摘　　要：儿茶酚胺敏感性多形性室性心动过速(CPVT)是一种遗传性离子通道病。大多数病例与RYR2和CASQ2基因变异有关,变异使细胞内的钙稳态严重失衡,过度钙释放产生延迟去极化,最终导致心律失常。该病常见于剧烈运动或压力相关情绪后出现晕厥,以及突发心脏骤停甚至心源性猝死的患儿,确诊主要依靠运动负荷试验及基因检测。CPVT的标准治疗依赖于β受体阻滞剂,而氟卡尼和左心交感神经切除为二线治疗,植入心律转复除颤器适用于猝死高风险的患儿,同时目前也发现了一些潜在的治疗干预措施。本文综述了CPVT的遗传学、病理生理学、临床特征、诊断及治疗策略,以期为临床提供参考。Catecholaminergic polymorphic ventricular tachycardia is a hereditary cardiac channelopathy.Most cases are related to mutations in the RYR2 and CASQ2 genes,which severely disrupt the calcium homeostasis in cardiac cells.Excessive calcium release leads to delayed depolarization,ultimately leading to arrhythmia.This disease is seen in patients who experience syncope after intense exercise or stress-related emotions,as well as in patients with sudden cardiac arrest or even sudden cardiac death.It is mainly diagnosed through exercise stress testing and genetic testing.Standard treatment for CPVT relies on beta-blockers,while flucainide and left ventricular sympathetic nerve denervation are second-line treatments.Implantation of cardioverter defibrillators is suitable for patients at a high risk of sudden death,and some potential therapeutic interventions have also been identified.This review summarizes the genetics,pathophysiology,clinical features,diagnosis,and treatment strategies of CPVT,with the aim of providing clinical guidance.

关 键 词：儿茶酚胺敏感性室性心动过速 基因变异 运动负荷试验 Β受体阻滞剂 基因治疗 

分 类 号：R54[医药卫生—心血管疾病]