TECRL基因与儿茶酚胺敏感性室性心动过速  

TECRL gene in catecholaminergic polymorphic ventricular tachycardia

作　　者：郑钧敏(综述) 侯翠兰 肖婷婷(审校)[1] Zheng Junmin;Hou Cuilan;Xiao Tingting(Department of Cardiology,Shanghai Children′s Hospital,Shanghai Jiao Tong University,Shanghai 200062,China)

机构地区：[1]上海交通大学附属儿童医院心内科,200062

出　　处：《国际儿科学杂志》2021年第8期511-514,共4页International Journal of Pediatrics

基　　金：上海市科委科研基金资助项目(19411963600);上海市科委科研基金资助项目(18411965800);上海市儿童医院优青项目(2019YQ06)。

摘　　要：儿茶酚胺敏感性室性心动过速(catecholaminergic polymorphic ventricular tachycardia,CPVT)是由情绪应激或运动诱发的一种高致死性遗传性心律失常,可突发快速多态性室性心动过速和室颤,并可能导致晕厥或猝死,预后不良。基因检测是确诊该疾病的方法。目前已发现该病与RyR2、CASQ2、TECRL等基因异常有关,其突变会影响钙稳态导致心脏正常电生理活动异常,从而引起延迟后除极,继而引发恶性心律失常。该文对儿茶酚胺敏感性室性心动过速中新型致病基因TECRL基因的突变进行综述,通过对既往文献报道中该突变基因的认识和学习,以进一步探索该病的发病机制,学习应对恶性心律失常的发生,并促进对该病进行精准治疗。Catecholaminergic polymorphic ventricular tachycardia(CPVT)is a highly fatal inherited arrhythmia induced by emotional stress or exercise.It can be triggered by rapid polymorphism of ventricular tachycardia and ventricular fibrillation,and may lead to syncope or sudden death,with a poor prognosis.Genetic testing is one way to diagnose the disease.It has been found that the disease is related to abnormalities of RyR2,CASQ2,TECRL and other genes,whose mutations affect calcium homeostasis and lead to abnormal electrophysiological activity of the heart,leading to delayed depolar(DADs),and subsequently to malignant arrhythmia.This paper reviewes the mutation of the new pathogenic gene TECRL gene in catecholamine sensitive ventricular tachycardia,through the understanding and learning of the mutation gene reported in the previous literature,in order to further explore the pathogenesis of the disease,learn to deal with the occurrence of malignant arrhythmia,and promote the clinical precise treatment of the disease.

关 键 词：儿茶酚胺敏感性室性心动过速 TECRL基因 

分 类 号：R54[医药卫生—心血管疾病]