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Case Reports
Journal Article
Total anomalous pulmonary venous drainage associated with fatal outcome in infancy and early childhood: an autopsy study of 52 cases.
Pediatric Pathology 1994 July
Clinicopathological details of 52 cases of total anomalous pulmonary venous drainage (TAPVD) taken from pediatric autopsy files from hospitals in Adelaide (Australia) Oxford and Edinburgh (United Kingdom) between 1957 and 1990 are presented. The patients ranged in age from a stillborn girl to a 15-month-old boy, with 42 cases (81%) dying in the first 3 months of life. While many patients had signs of a congenital cardiovascular anomaly prior to death, including tachypnea, tachycardia, central cyanosis, cardiac failure, heart murmurs, and difficulty in feeding, it was noteworthy that eight patients (16%) presented as sudden and unexpected death in the absence of significant antemortem symptoms and signs. Anomalous pulmonary venous drainage was also unsuspected prior to death in a total of 26 cases (53%) of those where relevant history was available (49 cases). Twelve infants (23%) underwent surgical correction, none of whom survived more than several weeks. TAPVD was isolated in 30 cases (58%) and was associated with other cardiac or congenital anomalies in 22 patients (42%). Just under half of nonisolated cases comprised the asplenia-heterotaxy syndrome. The points of drainage of the anomalous pulmonary veins were to the infradiaphragmatic veins (n = 21, 40%), left innominate vein (n = 13, 25%), coronary sinus (n = 7, 13%), right superior vena cava (n = 4, 8%), inferior vena cava 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 vein (n = 1, 2%). Twenty-three of 47 cases (49%) that were specifically examined revealed obstruction of the pulmonary veins or pulmonary hypertensive vascular changes on histology. These results emphasize that TAPVD needs to be excluded at autopsy as a causal factor in cases of sudden infant death even in the absence of antemortem symptoms and signs. Clues at autopsy include abnormal mobility of the heart, visceral situs inversus, and polyasplenia. The diversity of pulmonary-systemic venous anastomoses necessitates careful in situ dissection above and below the diaphragm and consideration of postmortem angiography.
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