房间隔缺损(ASD)、室间隔缺损(VSD)、动脉导管未闭(PDA)、房室隔缺损(AVSD)是常见左向右分流型先天性心脏病,分子生物学及分子遗传学研究表明,相关基因改变可能是导致此类先心病发病的原因之一。Nkx2.5、TBX5、GATA4、TFAP2B、CRELD1作为转录因子及功能基因,可通过复杂的调控机制直接、间接地参与心脏的正常发育。近年来诸多研究表明,上述相关基因突变,可能与ASD、VSD、PDA、AVSD的发生相关。 Atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and atrioventricular septal defect (AVSD) are common left-to-right shunt congenital heart disease. Studies in molecular biology and molecular genetics , Related gene changes may be one of the causes of such congenital heart disease. Nkx2.5, TBX5, GATA4, TFAP2B, CRELD1 as transcription factors and functional genes can directly and indirectly participate in the normal development of the heart through complex regulatory mechanisms. In recent years, many studies have shown that the above-mentioned gene mutations may be related to the occurrence of ASD, VSD, PDA, AVSD.