Pulmonary atresia with intact ventricular septum (PA/IVS) is a critical cyanotic congenital heart disease with high mortality in neonates and infants. Interventions must be given at early stage after birth. The survival rate and prognosis of patients with PA/IVS have been significantly improved with the development of prenatal diagnosis techniques and therapeutic techniques of medicine and surgery. This paper reviews and summarizes the progresses in diagnosis and treatment of PA/IVS to provide a reference for the clinical treatment of the disease.