转录因子在先天性房室隔缺损遗传学机制中的作用

The robe of transcription factors in genetics mechanism of congenital atrioventricular septal defect

先天性房室隔缺损是一种累及心脏房室瓣和房室间隔的先天性心脏病.心脏转录因子在心脏瓣膜发育及房室间隔的形成方面起重要作用,目前已知转录因子GATA4、NKX2.5、TBX5、ZIC3可能参与了房室隔缺损的发病机制,它们的表达异常或功能变化可能导致房室瓣膜及间隔的发育异常.

Atrioventricular septal defect （AVSD）is a frequently diagnosed congenital heart malformation affecting the atrioventricular valves and septa. Heart transcription factors play fundamental roles in atrioventricular valves development and atrioventricular septa formation. Now cardiac transcription factors （ GATA4, NKX2. 5,TBX5 ,ZIC3）have been identified to involve in the pathogenesis of AVSD in humans. Their abnormal expression or function change may cause atrioventricular valve and septa developmental anomalies. Here we review advances in the understanding of the relationship between these transcription factors and AVSD.