儿茶酚胺敏感性多形性室性心动过速的诊治进展

Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia

儿茶酚胺敏感性多形性室性心动过速(catecholaminergic polymorphic ventricular tachycardia,CPVT)是一种少见的遗传性离子通道病,主要影响儿童和年轻人,以多态和双向性室性心动过速为特征,症状包括头晕、心悸,严重者可出现晕厥发作,甚至心跳骤停、心源性猝死。临床已证实青少年CPVT的致病基因主要为RYR2、CASQ2、TRDN、CALM1、TRD。目前,β受体阻滞剂仍是CPVT的一线治疗药物,适度的运动训练是一种有效针对CPVT患者的潜在协同治疗方法。植入型心律转复除颤器常用于CPVT的治疗,但在植入之前,需要仔细考虑可能导致死亡的不恰当的电击,以及由于这些电击和其设备相关并发症而导致患者严重焦虑和抑郁的发生。氟卡尼已经被证明是一种有效的治疗药物,特别是对于β受体阻滞剂治疗抵抗的CPVT病例。左心交感神经切断术在预防CPVT症状和心脏事件方面也显示出很高的疗效,联合使用β受体阻滞剂可先于植入型心律转复除颤器植入治疗。

Catecholaminergic polymorphic ventricular tachycardia is a rare hereditary ion channel disease,which mainly affects children and young adults.Clinically,the pathogenic genes of CPVT in adolescents are mainly RYR2,CASQ2,TRDN,CALM1 and TRD.Currently,beta blockers remain the first-line treatment for CPVT,and moderate exercise training is considered as an effective potential synergism for CPVT patients.Implantable cardioverter defibrillators are commonly used in the treatment of CPVT,but inappropriate shocks and device-related complications need to be carefully considered before implantation.Flecainide has been shown to be effective therapeutic agent,especially for the treatment of resistant CPVT cases with beta blockers.Left cardiac sympathetic denervation has also shown to be highly effective in preventing CPVT symtoms and cardiac events,and a combination of beta blockers can precede implantable cardioverter defibrillator implantation.