TOTAL ANOMALOUS PULMONARY VENOUS DRAINAGE ASSOCIATED WITH FATAL OUTCOME IN INFANCY AND EARLY-CHILDHOOD - AN AUTOPSY STUDY OF 52 CASES

Clinicopathological details of 52 cases of total anomalous pulmonary v enous drainage (TAPVD) taken from pediatric autopsy files from hospita ls in Adelaide (Australia) Oxford and Edinburgh (United Kingdom) betwe en 1957 and 1990 are presented. The patients ranged in age from a stil lborn girl to a 15-month-old boy, with 42 cases (81%) dying in the fir st 3 months of life. While many patients had signs of a congenital car diovascular anomaly prior to death, including tachypnea, tachycardia, central cyanosis, cardiac failure, heart murmurs, and difficulty in fe eding, it was noteworthy that eight patients (16%) presented as sudden and unexpected death in the absence of significant antemortem symptom s and signs. Anomalous pulmonary venous drainage was also unsuspected prior to death in a total of 26 cases (53%) of those where relevant hi story was available (49 cases). Twelve infants (23%) underwent surgica l correction, none of whom survived more than several weeks. TAPVD was isolated in 30 cases (58%) and was associated with other cardiac or c ongenital anomalies in 22 patients (42%). Just under half of nonisolat ed cases comprised the asplenia-heterotaxy syndrome. The points of dra inage of the anomalous pulmonary veins were to the infradiaphragmatic veins (n = 21, 40%), left innominate vein (n = 13, 25%), coronary sinu s (n = 7, 13%), right superior vena cava (n = 4,8%), inferior vena cav a above the diaphragm (n = 2, 4%), right innominate vein (n = 2, 4%), mixed left innominate vein and coronary sinus (n = 1, 2%), azygos vein (n = 1, 2%), and mixed right superior vena cava and left hemiazygos v ein (n = 1, 2%). Twenty-three of 47 cases (49%) that were specifically examined revealed obstruction of the pulmonary veins or pulmonary hyp ertensive vascular changes on histology. These results emphasize that TAPVD needs to be excluded at autopsy as a causal factor in cases of s udden infant death even in the absence of antemortem symptoms and sign s. Clues at autopsy include abnormal mobility of the heart, visceral s itus inversus, and polyasplenia. The diversity of pulmonary-systemic v enous anastomoses necessitates careful in situ dissection above and be low the diaphragm and consideration of postmortem angiography.