家族性心房颤动致病基因的研究进展  

Progress in pathogenic genes of familial atrial fibrillation

作　　者：成海铭 陈松生 岑运光 黄伟光 张少衡 CHENG Haiming;CHEN Songsheng;CEN Yunguang;HUANG Weiguang;ZHANG Shaoheng(Department of Cardiology,Guangzhou Red Cross Hospital of Jinan University,Guangzhou 510220,China)

机构地区：[1]暨南大学附属广州红十字会医院心血管内科,广东广州510220

出　　处：《中国病理生理杂志》2023年第3期543-550,共8页Chinese Journal of Pathophysiology

基　　金：国家自然科学基金资助项目(No.81770291);广州市科技计划项目(No.202002030081)。

摘　　要：早在1943年,Wolff[1]观察到心房颤动(简称房颤)的发病呈家族聚集倾向。家族性房颤(familial atrial fibrillation,FAF)作为一种遗传性疾病,符合孟德尔遗传定律,并存在遗传异质性[2]。同时,与非家族性房颤患者相比,FAF具有发病年龄早、药物治疗有效率低等临床特点;调整年龄和合并症等因素的影响,FAF患者与非家族性房颤患者具有相似的全因死亡率和血栓栓塞风险,严重影响着人类的身体健康,给社会带来巨大的医疗与经济负担[3]。The onset of atrial fibrillation has an obvious genetic predisposition.Familial atrial fibrillation(FAF)has an obvious familial aggregation.The mechanism of atrial fibrillation is unclear.Some researches have shown that gene mutation is the main influencing factor of FAF.Many pathogenic genes have been identified,including ion channel gene mutations and non-ion channel gene mutations.In this paper,the research progress in these gene mutations is reviewed.

关 键 词：家族性心房颤动 基因突变 发病机制 

分 类 号：R541.75[医药卫生—心血管疾病] R363[医药卫生—内科学]