Total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection (TAPVC), where the pulmonary venous circulation drains into the systemic venous circulation rather than into the left atrium, may present a number of problems at autopsy. A 5-week-old infant is reported who died suddenly and unexpectedly who was found at autopsy to have infradiaphragmatic TAPVC into the portal vein. The only associated anomalies were a tri-lobed left lung, a patent ductus arteriosus, and drainage of the inferior vena cava into the both the right and left atria. This case demonstrates particular features that may lead to difficulties in establishing the diagnosis of TAPVC. Sudden death in the absence of symptoms in this age group raises the possibilities of sudden infant death syndrome (SIDS) and inflicted injury, both of which were discounted in this case. An autopsy approach is outlined to maximize chances of diagnosing this entity that includes meticulous inspection and dissection of cardiac vascular connections before evisceration, with photographic documentation of findings. Concurrent cardiovascular abnormalities, including valve atresias, septal defects, and left heart hypoplasia are likely in the presence of asplenia/polysplenia syndrome. Extracardiac anomalies may be present in the form of Holt-Oram, Ellis-van Creveld, and cat eye syndromes. Careful examination of the common draining vein for obstructive features is an important part of the postmortem assessment. The possibility of heritable cases requires referral of the family for genetic evaluation.