ABSTRACT
BACKGROUND: Total anomalous pulmonary venous return (TAPVR) is an uncommon congenital heart defect. Obstructed forms are more severe, and typically present earlier in life, usually in the immediate newborn period, with symptoms of severe cyanosis and respiratory failure. CASE REPORT: A 13-day-old boy presented to the emergency department (ED) with respiratory extremis. He appeared cyanotic and limp, and was found to have significant hypoxia with oxygen saturation of 40%. He had no improvement of oxygenation with bag-valve-mask ventilation despite a fraction of inspired oxygen near 100%. This gave clear indication that the hypoxia was caused by a shunt and not by hypoventilation, a ventilation/perfusion mismatch, or a barrier to diffusion. Next, the patient was intubated emergently. Broad spectrum antibiotics and fluid resuscitation with normal saline were initiated. A chest radiograph showed evidence of pulmonary edema vs. diffuse interstitial disease. Cardiology was consulted and evaluated the child with an echocardiogram, which revealed TAPVR with infradiaphragmatic obstructed veins. Once stabilized, he was transferred for definitive surgical repair. This is, to our knowledge, the first reported case of TAPVR with infradiaphragmatic obstruction presenting to the ED with hemodynamic and respiratory compromise beyond the first week of life. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Despite improvements in antenatal and newborn screening, congenital heart disease often remains an elusive diagnosis. Some patients with these critical lesions are discharged home before the manifestation of their disease becomes apparent. Once symptomatic, these patients often present to the ED in extremis. We conclude that it is important to recognize this presentation to ensure proper evaluation and early diagnosis. If misdiagnosed, many of the usual therapies for other diseases could be detrimental.