Objective      To determine the role of methylation of CITED2 promoter in congenital heart disease.       Methods      Myocardial tissues from 43 children with congenital heart disease were collected during surgery in the Department of Cardiothoracic Surgery from March 2011 to March 2012. and the tissue samples of 2 health children were harvested after accidental death. Bisulfite-sequencing PCR (BSP) and methylation-specific PCR (MSP) were used to screening mutation and detect methylation in CITED2 promoter.       Results      Heterozygous mutation (-341TG) was found in 4 children with congenital heart disease. But this mutation had no effect on mRNA expression of CITED2. Positive rate of CITED2 methylation was 83.3% (10/12) by BSP and 84.2% (16/19) by MSP. Compared with the control group

CITED2 mRNA expression was significantly reduced (P0.05).       Conclusion      Abnormal methylation of CITED2 promoter (CpG island) is found in congenital heart disease. The abnormal methylation leads to a decrease in mRNA expression of CITED2

which might be involved in the incidence and development of congenital heart disease.