Advances in gene pathogenesis of pulmonary atresia

Abstract

As one of the most common congenital malformations, congenital heart disease is an important cause of mortality in children. Among them, pulmonary atresia (PA) is a relatively rare complex condition with many complications, a low cure rate and a poor prognosis. A comprehensive assessment should be made for its causes, surgical treatment, postoperative care and disease prognosis. The occurrence of congenital heart disease is closely correlated with such unfavorable factors as gene mutation and environmental deterioration so that there are great challenges to its prevention and treatment. This review focuses on the causes of PA and elaborates on its possible genetic causes. Key words: Congenital heart disease; Pulmonary artery atresia; Copy number variants; Gene mutations