Absent Pulmonary Valve Syndrome: A Newborn Case Report

Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease. It can be seen isolated or with other congenital heart diseases. Here, we presented a neonate with cyanosis and dyspnea because of APVS. A-female-newborn was referred to pediatric cardiology due to cyanosis, respiratory distress and prenatally diagnosed right ventricular dilatation. Rudimentary pulmonary valves and severe pulmonary and tricuspid regurgitations were determined postnatally with echocardiography and magnetic resonance imaging. Additionally, main pulmonary artery and its branches were seen dilated. Unfortunately she died on third day of her life, although supportive and medical treatments were administered intensively. Most of APVS cases are a variant of Tetralogy of Fallot. But clinical findings, prognosis and hemodynamic conditions can be different. Infants requiring mechanical ventilation shold be undergone operation as soon as possible. Our case could not be operated because of unstable vital functions. Absent pulmonary valve syndrome should be considered as a differential diagnosis in neonates with cyanosis and respiratory distress. If prenatal diagnosis is present, we suggest that parturition should happen in a medical center includes pediatric cardiology and cardiovascular surgery and also neonatal intensive care unit.