TBX20基因突变与各类先天性心脏病发生的研究进展

摘要

TBX20 gene encodes a T - box transcription factor,which plays an important role in cardiac deve-lopment and in maintaining the maturation of cardiac function. TBX20 mutations are related to a variety of human con-genital heart diseases (CHD)that include atrial septal defect,ventricular septal defect,tetralogy of Fallot,double outlet right ventricle,dilated cardiomyopathy and other valvular diseases. This review focuses on the relationship between TBX20 gene and the development of heart,the TBX20 gene mutations newly found in patients with various CHD in re-cent years and their relationship,which will provide guide for further clinical research and possible intervention.%TBX20基因编码一个T-box转录因子,在心脏发育和心脏功能成熟的过程中起较为关键的作用.TBX20基因突变与人类多种先天性心脏病的发生有关,其中包括房间隔缺损、室间隔缺损、法洛四联症、右心室双出口、扩张型心肌病及其他瓣膜疾病.现主要对TBX20基因与心脏发育的关系、近几年各类先天性心脏病中新发现的TBX20基因突变及TBX20基因突变与各类先天性心脏病的发生关系进行综述,以期为今后进一步的临床研究和干预治疗提供方向和参考.