A Rare Case of D-transposition of the Great Arteries (TGA) With Ventricular Septal Defect (VSD), Dysplastic Pulmonary Valve (Absent Pulmonary Valve Physiology), and Aortic Valve Stenosis in a Term Neonate

TL;DR

A rare case of a newborn with multiple complex heart defects is described, highlighting the challenges in diagnosis and management.

Contribution

The paper presents a rare combination of D-transposition of the great arteries and other cardiac anomalies in a neonate.

Findings

The neonate had TGA with VSD, APV, and aortic valve stenosis, a very rare combination.

Conservative management was chosen due to the complexity and poor social support for the family.

The case emphasizes the difficulty in managing severe conotruncal malformations in neonates.

Abstract

Absent pulmonary valve (APV) syndrome is an uncommon congenital cardiac anomaly most frequently associated with tetralogy of Fallot, representing only 3% of such cases. Its occurrence with transposition of the great arteries (TGA) is exceptionally rare, and the presence of coexisting aortic valve stenosis adds significant hemodynamic complexity. We describe a term neonate who presented immediately after birth with severe cyanosis and desaturation, requiring intubation and prostaglandin E₁ infusion. Chest radiography demonstrated marked cardiomegaly, while echocardiography confirmed TGA with a large ventricular septal defect (VSD), a dysplastic pulmonary valve resulting in free pulmonary regurgitation with massive main pulmonary artery dilatation, hypoplastic branch pulmonary arteries, and moderate aortic valve stenosis. Given the complexity of the cardiac anatomy, the guarded prognosis, and significant limitations in social support, including the poor socioeconomic status of very young parents who lived far from the nearest tertiary hospital, the multidisciplinary team elected to pursue conservative management. This rare constellation of cardiac lesions underscores the challenges of early recognition, risk stratification, and decision-making in neonates with severe conotruncal malformations.

Figures