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

## TL;DR

A rare heart defect called Fallot-type absent pulmonary valve syndrome caused severe breathing issues in a newborn, highlighting the need for early detection and tailored surgical approaches.

## Contribution

This case study emphasizes the importance of personalized surgical strategies for managing complex congenital heart defects like APVS.

## Key findings

- Early detection and individualized surgical approaches are crucial for managing APVS and improving long-term survival.
- The absence of a patent ductus arteriosus in APVS cases remains unexplained and requires further research.
- Pulmonary artery dilatation can lead to severe pulmonary insufficiency and cyanosis in affected infants.

## Abstract

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.

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.

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.

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.

•The importance of observation and direct clinical survey of the newborn, there was a reason to detect a serious cardiac syndrome.•Pulmonary artery dilatation over time turned dyspnea into severe pulmonary insufficiency.•Cyanosis is a primary symptom in our patient, which was the result of severe respiratory insufficiency.•The absence of a patent ductus arteriosus is not yet clearly explained for this syndrome.•Interventional surgery is the gold standard, but individualizing each patient's case requires an individualized surgical approach and this is a major challenge for doctors.

The importance of observation and direct clinical survey of the newborn, there was a reason to detect a serious cardiac syndrome.

Pulmonary artery dilatation over time turned dyspnea into severe pulmonary insufficiency.

Cyanosis is a primary symptom in our patient, which was the result of severe respiratory insufficiency.

The absence of a patent ductus arteriosus is not yet clearly explained for this syndrome.

Interventional surgery is the gold standard, but individualizing each patient's case requires an individualized surgical approach and this is a major challenge for doctors.