Advances in genetic research of congenital heart disease in children / 国际儿科学杂志

ABSTRACT

Congenital heart disease(CHD) in children refers to a group of clinical syndromes in which fetal heart and blood vessels develop abnormally due to various factors, which further affect normal structure and function.The clinical mortality rate of CHD in children ranks the first among non-infectious diseases, which brings great mental pressure and economic burden to the families of children.Most scholars believe that genetic factors and environmental factors alone or both cause CHD.In recent years, with the development of molecular genetics research, the genetic factors of children′s CHD have become the focus of study, mainly including single gene mutation, polygene mutation and chromosome abnormality, these mutations or abnormalities have no absolute one-to-one relationship with clinical phenotypes of CHD in children.Genetic research of CHD can provide theoretical basis for primary prevention of the disease and help prenatal counseling to reduce the occurrence of birth defects.