Fatal Neonatal Cardiac Rhabdomyoma Presenting With Pulmonary Hypoplasia: An Autopsy Case Report From Jamaica

Cardiac rhabdomyomas are the most common primary cardiac tumors in infants and are frequently associated with tuberous sclerosis complex. Although typically benign with a tendency for spontaneous regression, large lesions may result in significant morbidity and mortality. We report the case of a preterm female neonate in whom a large cardiac mass was detected on third-trimester ultrasound, accompanied by pleural effusion, lung hypoplasia, and ascites. At birth, the infant presented with severe respiratory distress, bradycardia, and hypoxia requiring ventilatory support, but despite initial stabilization, her condition rapidly deteriorated, leading to death on the third day of life. Autopsy revealed a large left ventricular mass measuring 5.0 cm × 3.5 cm × 2.8 cm, associated with pericardial effusion and marked pulmonary hypoplasia, and histopathological examination confirmed cardiac rhabdomyoma. This case highlights the potential for large cardiac rhabdomyomas to possibly contribute to fatal extracardiac complications, including pulmonary hypoplasia, particularly in resource-limited settings where advanced imaging modalities are limited.