A Case Report of an Uncommon Association of Total Intracardiac Anomalous Pulmonary Venous Return and Tetralogy of Fallot

TL;DR

This case report describes a rare heart condition in a twin infant involving two uncommon heart defects and highlights the importance of early diagnosis and treatment.

Contribution

The paper presents a rare case of non-obstructed TAPVR associated with tetralogy of Fallot in a living twin.

Findings

The infant presented with non-obstructed TAPVR and tetralogy of Fallot.

The twin sibling died likely due to a complex cyanotic heart defect.

Echocardiography is crucial for diagnosing TAPVR, with MRI and CT as alternatives.

Abstract

Total anomalous pulmonary venous return (TAPVR) represents a group of anomalies consisting of a lack of connection between the pulmonary veins and the left atrium. All oxygenated pulmonary venous return flows directly or indirectly into the right atrium. Survival is only possible with a right-to-left atrial shunt. It remains rare, accounting for less than 1% of all congenital heart diseases. Its association with tetralogy of Fallot is much rarer and has been documented in medical literature as isolated cases. Early prenatal diagnosis, rapid surgical repair, and optimal postoperative resuscitation appear to be the best guarantee of a favorable outcome following total repair of a pulmonary venous connection anomaly.

Non-obstructed forms present as high-flow shunts with moderate cyanosis. The symptomatology of blocked forms is dominated by the obstruction to venous return; a clinical picture of respiratory distress with intense cyanosis and severe pulmonary arterial hypertension develops from the first days of life. Echocardiography is fundamental in diagnosing TAPVR. If the results are inconclusive, magnetic resonance imaging and computed tomography are appropriate alternatives for establishing a complete and accurate diagnosis.

We report a case of a two-month and 22-day-old infant who is a product of a twin pregnancy, presenting with a non-obstructed TAPVR associated with tetralogy of Fallot, and his twin who died on day 20 of life, likely due to a complex cyanotic congenital heart disease.

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