Association Between Clinical Features Of Congenital Heart Disease And NKX2-5 Gene

Congenital heart disease(CHD)is a highly regarded and harmful diseases currently,which is the most common type of congenital malformation,approximately 28% of all kinds of congenital malformation.CHD is mainly caused by abnormal development of the heart and large blood vessels during embryonic development,which seriously endangers children’s life and health,and brings a heavy mental and economic burden to families and society.CHD is the leading cause of neonatal death,and bout 0.4% to1% of newborns worldwide have CHD.About 10% of fetal abortions are related to cardiac hypoplasia.In China,the incidence of congenital heart disease accounts for4.09‰ of life-infant,and the incidence of CHD is increasing year by year.Accumulating evidence indicated that CHD is the result of a combination of environmental and genetic factors,genetic factors are the basis,environmental factors are the cause,and genetics is mainly caused by genetic mutations.Studies have shown that the overall prevalence of CHD in Yunnan is 6.964‰,which is higher than the national average.This may be related to the southwestern border of Yunnan,with special geographical and ethnic characteristics.So,the study of clinical features of patients and the genetic testing of families with genetic history in Yunnan are of great value.With the rapid development of genetic research in CHD and other birth defects,some heart developments related genes,such as GATA4 and NKX2.5,have been discovered.NKX2.5 gene is the first disease-causing gene found in congenital heart disease,and its mutation has been verified in familial autosomal dominant atrioventricular septal defect.To date,a total of seven variant sites rs17052019,rs2277923,rs3729938,rs3729753,rs3729754,rs703752,and rs11552707 have been found to be involved in cardiac hypoplasia in the NKX2-5 gene.This study analyzed the clinical characteristics of CHD thorugh the sample library of Wenshan Prefecture.And Sanger sequencing was performed to identify possible disease-related mutations in the NKX2-5 gene.This study selected 750 patients with CHD who were diagnosed by cardiac color Doppler ultrasound and cardiac catheterization in the Department of Cardiology,Wenshan Prefecture People’s Hospital from November 2015 to May 2017.A statisticalanalysis of its clinical features found that atrial septal defect was the most common in patients with simple congenital heart disease in Wenshan,followed by ventricular septal defect,then patent ductus arteriosus,and atrial septal defect was the most common in adults.Secondly,there was no significant difference between the cases of multiple congenital heart diseases.In addition,whether it is simple congenital heart disease or multiple congenital heart diseases,the symptoms and deformities are related to their complexity.Subsequently,genetic testing were carried out on NKX2.5 gene of10 families with CHD,and the peripheral venous blood was collected for genetic testing.It was found that 3 families in 10 families were associated with rs2277923 and rs703752 double mutations,respectively from the Yi,Jingpo and Zhuang,suggesting that the combination of these two SNPs is likely to have a higher mutation rate among the three ethnic groups.In addition,the mutation rate of rs2277923 SNP in NKX2-5gene was found to be 81.25%,and rs703752 was 18.75%,which indicated that there was a genetic phenomenon in the families.Rs2277923 and rs703752 SNP sites of NKX2-5 gene,which related to cardiac hypoplasia are hotspot mutations.Meanwhile,for family members carrying one or two mutations,especially two mutation carriers,it is recommended that families should pay enough attention and cautions to try to avoid risks.