A Case of Antenatal Diagnosis of Absent Pulmonary Valve Syndrome with Intact Ventricular Septum, Large Patent Ductus Arteriosus, and Ascending Aorta Dilatation

Abstract

Absent pulmonary valve syndrome (APVS) is a rare congenital anomaly characterized by rudimentary PV tissue with variable degrees of PV stenosis and regurgitant pulmonary blood flow. In most cases, it is associated with tetralogy of Fallot. In a minority of APVS cases, with an unknown frequency, intact ventricular septum (IVS), patent ductus arteriosus, and possible tricuspid atresia are present. This condition is known as non-Fallot type APVS. We describe a case of an antenatal diagnosis of APVS with IVS, a large patent ductus arteriosus, and ascending aorta dilatation. The mother was referred to our center at 32 weeks of gestation due to cardiomegaly on sonography. Fetal echocardiography revealed cardiomegaly, right atrial and ventricular enlargement, aneurysmal dilatation of the main pulmonary artery, and mild dilatation of the pulmonary artery branches. Also observed were IVS, rudimentary PV tissue with severe to-and-fro turbulence across the PV, a widely open ductus arteriosus, ascending aorta dilatation, and levorotation of the heart. After childbirth, our diagnosis was confirmed by echocardiography and surgery. The baby experienced severe respiratory distress. At 15 days of life, surgical intervention in the form of pulmonary artery arterioplasty was performed, resulting in good outcomes. The patient underwent follow-up for 6 months and showed reasonable health.