Snapshot A neonatal boy is born to a 38-year-old mother with gestational diabetes. He seems to be tolerating feeds; however, in the first few days of life, his mother notices that his lips turn blue whenever he cries. It resolves when he stops crying. On physical exam, the physician notes central cyanosis while crying. The physician puts him in a knee-to-chest position, without any effect. Echocardiography is obtained, and he is found with a large ventricular septal defect and transposition of the great vessels. Introduction Clinical definition a congenital heart defect in which the aorta leaves the right ventricle and the pulmonary trunk leaves the left ventricle, resulting in the complete separation of the systemic and pulmonary circulations Etiology Failure of neural crest cells to migrate Pathogenesis failure of the aorticopulmonary septum to spiral results in complete separation of the systemic and pulmonary circulations infants survive only if a shunt between the two circulations exist to mix oxygenated blood into the systemic circulation login to view 4 more bullets Associated conditions VSD coarctation of the aorta Epidemiology Demographics male > female present at birth most common cyanotic lesion presenting immediately after birth Risk factors maternal diabetes maternal smoking advanced maternal age Presentation Symptoms early and progressive cyanosis that does not correct with oxygen signs of heart failure login to view 3 more bullets Physical exam cardiac login to view 3 more bullets central cyanosis Imaging Radiography indication login to view 1 more bullet recommend views login to view 1 more bullet findings login to view 3 more bullets Echocardiography indication login to view 2 more bullets findings login to view 2 more bullets Differential Tetralogy of Fallot distinguishing factor login to view 1 more bullet Diagnosis Making the diagnosis based on clinical presentation and echocardiography in some cases, patients may be diagnosed prenatally with fetal echocardiography Treatment Medical prostaglandin E1 login to view 4 more bullets Operative balloon atrial septostomy (Rashkind procedure) login to view 3 more bullets arterial switch surgical repair login to view 3 more bullets Complications Heart failure Sudden cardiac death Prognosis Infants experience severe cyanosis and tachypnea as the ductus arteriosus closes in the newborn period Patients with large VSDs may not present with severe cyanosis they may only have cyanosis when the patient cries or feeds due to increased oxygen needs with activity