Our study revealed that four mutations influenced the transcription regulatory properties of VEGF and three mutations reduced costimulation capacity to promote PITX2C. Further research showed that four CITED2 mutations recovered the promoter activity of VEGF[26]caused by its decreased competitiveness with HIF1A to bind the p300CH1. Furthermore, three mutations also decreased the consociation of TFAP2C and CITED2 in the transactivation of PITX2C. Our study confirmed that CITED2 is a disease-causing gene of CHD and its mutations can result in the cardiac malformations. This evidence concerns the gene HIF1A and coronary artery disorder.