| 长Q-T间期综合征的临床实践指南 |
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| 引用本文： | 无,韩帅,胡金柱,蒋晨阳,孙君慧,王擎,周洲,祁鸣. 长Q-T间期综合征的临床实践指南[J]. 中华医学遗传学杂志, 2020, 0(3): 289-294 |
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| 作者姓名： | 无 韩帅 胡金柱 蒋晨阳 孙君慧 王擎 周洲 祁鸣 |
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| 作者单位： | 中华医学会医学遗传学分会遗传病临床实践指南撰写组;浙江大学医学院细胞生物学与医学遗传学系;南昌大学第二附属医院;浙江大学医学院附属邵逸夫医院基因中心;华中科技大学生命科学与技术学院;中国医学科学院阜外医院实验诊断中心;浙江大学医学院附属第一医院基因中心;浙江迪安诊断技术股份有限公司;美国罗切斯特大学医学中心 |
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| 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。
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| 关 键 词： | 长Q-T间期综合征 实践指南 遗传咨询 |
Clinical practice guidelines for Long Q-T interval syndrome |
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| 无,Han Shuai,Hu Jinzhu,Jiang Chenyang,Sun Junhui,Wang Qing,Zheng Liangrong,Zhou Zhou,Qi Ming. Clinical practice guidelines for Long Q-T interval syndrome[J]. Chinese journal of medical genetics, 2020, 0(3): 289-294 |
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| Authors: | 无 Han Shuai Hu Jinzhu Jiang Chenyang Sun Junhui Wang Qing Zheng Liangrong Zhou Zhou Qi Ming |
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| Affiliation: | (Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases,Medical Genetics Branch of Chinese Medical Association;不详) |
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| Abstract: | 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. |
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| Keywords: | Long Q-T interval syndrome Practice guideline Genetic counseling |
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