遗传性心律失常的基因检测

Genetic Testing for Inherited Cardiac Arrhythmias

自1995年发现遗传性心律失常第一个离子通道致病基因以来,心律失常的遗传学研究取得了长足的进展,发现了近30个致病基因和近千个致病突变位点。2011年,美国心律学会/欧洲心律学会发布了《心脏离子通道病与心肌病基因检测专家共识》,2013年,美国心律学会/欧洲心律学会/亚太心律学会共同发布了《遗传性原发心律失常综合征患者的诊断治疗专家共识》[1-2]。目前发达国家对遗传性心律失常的基因检测已用于辅助诊断。中华医学会心血管病学分会和中华心血管病杂志编辑委员会专家组根据国外的进展和自己的观点发布了相应的中国专家共识,其中重点阐述了基因检测在遗传性心律失常中的价值,评估了基因检测结果对不同种类的遗传性心律失常的诊断、预后、治疗和预防的影响,为我国遗传性心律失常基因检测提供了指导性意见。

Since the first ion channel mutation of inherited cardiac arrhythmia had been found in 1995, advanced progress has been achived in this field. So far, near one thousand mutations in 30 genes has been identified. Genetic testing for inherited cardiac arrhythmias has become an useful auxiliary diagnostic tool in the developed countries. In 2011, HRS/EHRA published Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies ; in 2013, HRS/EHRA/APHRS published Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes. Based on the opinion of the international experts and on their own experience, experts of Chinese Society of Cardiology, Chinese Medical Association; Editorial Board of Chinese Journal of Cardiology China also issued the China expert consensus statement. The statement majorly described the impact of genetic testing on the diag- nosis, prognosis, treatment and prophylaxis of inherited cardiac arrhythmias. It provided the guidance document of genetic testing for inheri- ted cardiac arrhythmias in our country.