Severe pulmonary insufficiency caused by Fallot-type absent pulmonary valve syndrome: A rare reason for neonatal central cyanosis.

ABSTRACT

INTRODUCTION: Absent Pulmonary Valve Syndrome (APVS) is a rare birth defect where the pulmonary valve is missing or underdeveloped. APVS often occurs alongside Tetralogy of Fallot, (TOF) another heart defect. PRESENTATION OF CASE A 33-year-old woman gave birth to a male infant with severe pulmonary stenosis (PS) and a large ventricular septal defect (VSD). The infant underwent surgery to close the VSD and resect the stenotic ring. Two years later, he remained asymptomatic with a closed VSD and no pulmonary valve gradient. DISCUSSION: Despite high mortality rates, long-term survival has improved with advancements in surgical repair. This case underscores the significance of early detection and personalized surgical strategies for complex congenital heart defects. CONCLUSION: Early identification of subtle symptoms is crucial for timely intervention, while individualized surgical strategies optimize outcomes. Further research is needed to understand the complex interplay of cardiac anomalies in APVS, particularly the absence of a patent ductus arteriosus in this case.