【摘要】 儿茶酚胺介导的多形性室速是一种少见却严重的遗传性心律失常,表现为无器质性心脏病的个体在运动或激动时发生双向性、多形性室速导致发作性晕厥及进展为心室颤动导致猝死。心肌细胞肌浆网异常释放钙离子使细胞内钙离子超载引起的延迟后除极可能是儿茶酚胺介导的多形性室速发生的机制。目前已知的和儿茶酚胺介导的多形性室速相关的基因为常染色体显性遗传的RyR2(位于1q42.1-q43)和常染色体隐性遗传的CASQ2(位于1p13.3-p11)。治疗:β-阻断剂适用于所有临床症状的个体和可能有RyR2突变而没有心脏事件(晕厥)或运动试验诱发的室性心律失常等病史的个体。反复心脏骤停患者需植入式心律转复除颤器。每6至12个月随访以监测疗效。患者所有的一级亲属,都应予心脏评估。更多还原

【Abstract】 Catecholaminergic polymorphic ventricular tachycardia(CPVT)is a rare,familial,physical and emotional stress-related ventricular tachycardia in the absence of structural heart disease.The mechanism of CPVT may be related to the onset of delayed after depolarizations and triggered activity due to Ca 2+ "leakage" from the sarcoplasmic reticulum.CPVT showed obvious familial aggregation,and is associated with mutations in SR-associated genes,including the RYR2 gene which is associated with autosomal dominant CPVT(on chromosome 1q42.1-q43),and the CASQ2(calsequestrin 2)gene associated with autosomal recessive CPVT(on 1p13.3-p11).Management:blockers are necessary for reproducible induction of arrhythmia during exercise.An implantable cardioverter defibrillator is applicable to those with recurrent cardiac arrest.Surveillance of every six to 12 months should be performed to monitor efficacy of therapy.First-degree relatives of a proband should be offered molecular genetic and cardiac testing.更多还原