Interpretation of the 2022 EHRA/HRS/APHRS/LAHRS expert consensus on genetic testing for cardiac diseases
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摘要: 遗传性心血管疾病是指由基因变异引起，符合孟德尔遗传规律的一系列心血管疾病，常表现出家族性聚集。相关疾病包括长QT综合征、短QT综合征、Brugada综合征等遗传性心律失常综合征，肥厚型心肌病、扩张型心肌病、致心律失常性心肌病等结构性心肌病。随着基因筛查在临床中的应用，临床医生应该如何认识基因筛查的重要性和局限性？2022《EHRA/HRS/APHRS/LAHRS心血管疾病基因检测专家共识》概述了基因检测的基本原则，并介绍了遗传性心律失常综合征、心肌病等疾病的基因检测现状，对临床工作具有重要指导意义。Abstract: Hereditary cardiovascular disease refers to a series of cardiovascular diseases caused by gene variants, in accordance with the rule of Mendelian inheritance, often showing familial aggregation. Related diseases include, but are not limited to, hereditary arrhythmia syndromes such as long QT syndrome, short QT syndrome, Brugada syndrome, and structural cardiomyopathy such as hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy. With the application of genetic screening in clinical practice, how should clinicians understand the importance and limitations of genetic screening, the 2022 EHRA/HRS/APHRS/LAHRS Expert Consensus on Genetic Testing for Cardiovascular Diseases Outlines the basic principles of genetic testing and introduces the current status of genetic testing for hereditary arrhythmia syndrome, cardiomyopathy and other diseases, which has important guiding significance for clinical work.
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Key words:
- genetic testing /
- cardiac diseases /
- arrhythmia
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