摘要
长Q-T间期综合征(Long Q-T syndrome,LQTS)是一种单基因遗传性心脏离子通道病,以QT间期延长、T波异常、尖端扭转型室速(torsade de pointes,TdP)为心电图表现,反复发作晕厥、抽搐、甚至猝死为临床特征。尽管LQTS的总体患病率不高,但由于高发心源性猝死,已引起心血管医师的密切关注。目前国内缺少针对性的LQTS临床实践指南。本指南的编写参考了国内外本领域的基础研究、临床研究和其他国家的相关指南共识,对LQTS的临床表现、遗传学机制、诊断标准、治疗与预后、遗传咨询等方面进行总结,以期促进和规范其临床诊疗实践。
Long Q-T syndrome(LQTS)is an ion channel disease of the heart featuring single gene inheritance.It is characterized by prolonged QT interval,abnormal T wave,torsade de points(TdP)on electrocardiogram,with recurrent syncope,convulsion and even sudden death.Although the overall prevalence of LQTS is not high,the disease has attracted attention of cardiologists for its high incidence of sudden cardiac death.The compilation of this guideline has referred to the consensus of basic and clinical research,guidelines of other countries,and summarized the clinical manifestations,molecular basis,diagnostic criteria,treatment and prognosis,and genetic counseling of LQTS.with an aim to standardize its clinical diagnosis and treatment.
作者
无
韩帅
胡金柱
蒋晨阳
孙君慧
王擎
周洲
祁鸣
无;Han Shuai;Hu Jinzhu;Jiang Chenyang;Sun Junhui;Wang Qing;Zheng Liangrong;Zhou Zhou;Qi Ming(Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases,Medical Genetics Branch of Chinese Medical Association;不详)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第3期289-294,共6页
Chinese Journal of Medical Genetics
关键词
长Q-T间期综合征
实践指南
遗传咨询
Long Q-T interval syndrome
Practice guideline
Genetic counseling
