Abstract

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. Key words: Transcription factors; Atrioventricular septal defect ; Genetics

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