Total anomalous pulmonary venous drainage (TAPVDI) associated with fatal outcome in infancy and early childhood - an autopsy study of 53 cases

Abstract

TAPVD results from developmental failure of the common pulmonary vein with retention end dilatation of various embryonic collateral vessels running between the lungs and systemic veins. We present 53 autopsy cases of TAPVD taken from paediatric autopsy files from Adelaide, Oxford and Edinburgh between 1957 and 1990. The patients ranged In age from a stillborn female to a 15 m.o. male with 43 cases (81%) dying In the first 3 months of life. The sex radio was nearly equal with 25 males 147%) and 28 females (53%). While many patients had signs of a congenital cardiovascular anomely prior to death, including techypnoes, techycardie, central cyanosis, cardiac failure and difficulties in feeding, it is noteworthy that 12 patients (23%) presented as sudden and unexpected death in the absence of significant antemortem symptoms and signs. Anomalous pulmônery venous drainage was unsuspected prior to death in s total of 28 cases (53%). 12 infants (23%) underwent surgical correction, none of whom survived mors than several weeks. TAPVD was isolated in 27 cases (51%) and was associated with other cardiac or congenital anomalies in 26 patients (49%). Just over one third of non-isolated ceses comprised the asplenia-heterotaxy syndrome. The points of drainage of the anomalous pulmonary veins were to the subdiaphragmatic veins (N = 21, 40%), L. innominate vein (N = 12, 23%), coronary sinus (N = 6, 11%), superior vena cava (N = 5, 9%), inferior vena cava (N = 3, 6%), L. innominate vein and coronary sinus (N = 2, 4%), azygous vein (N = 1, 2%), persistent L. superior vene cava (N = 1, 2%), R. atrium (N - 1, 2%) and R. innominale vein (N - 1, 2%). Nineteen cases (36%) revealed obstruction of the pulmonary veins or pulmonary hypertensive vascular changes on histology. Sixteen karyotypic studies performed revealed 15 normal keryotypes and 1 Trisomy 21. Given the age range of the patients, these results suggest that TAPVD needs to be excluded et autopsy as a causal factor in cases of sudden infant death, even in the ebsence of entemortem symptoms and signs. Clues at autopsy include abnormal mobility of the heart, visceral <i>situs inversus</i> and poly/asplenia. The diversity of pulmonary-systemic venous anastomoses necessitates careful <i>in situ</i> dissection above and below the diaphragm and consideration of postmortem angiography.