{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:08:18Z","timestamp":1792271298620,"version":"4.4.0"},"reference-count":48,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:p>Heterotaxy is a rare disease with high morbidity and mortality. Controversy exists over how to classify these syndromes with most cases stratified into asplenia\/polysplenia syndromes or right\/left isomerism. In an effort to review comprehensively specific pheonotypes associated with heterotaxy syndromes, we reviewed published cases series, adopted a classification scheme based on spleen status, and evaluated autopsy cases retrospectively with abnormal laterality at our institution. We categorized 116 cases as situs inversus totalis, polysplenia, asplenia, and single right-sided spleen. Cardiovascular abnormalities occurred in 87.1% of polysplenia, 90.5% of asplenia, and all cases of single right-sided spleen. For polysplenia, 48.9% had bilateral bilobed lungs, 87% had right-sided stomach, 58.1% had midline symmetric liver, and 60.4% had malrotated intestines. For asplenia, 51.9% had bilateral trilobed lungs, 86.7% had right-sided stomach, 45.8% had symmetric liver, and 65.5% had malrotated intestines. Atrioventricular septal defects occurred in 91.2% of asplenia compared to 56.8% of polysplenia cases. Eight percent had pulmonary\/aortic stenosis or atresia. Double outlet right ventricle was more common in polysplenia (32.6%) compared to asplenia (21.4%). Total anomalous systemic venous return was described in 55.6% of polysplenia and total anomalous pulmonary venous connections in 81% of asplenia cases. Greater than half of the cases had no heterotaxy diagnosis. Although, we found similar heterotaxy-associated characteristics, the frequencies differed from previous studies. We found great variation in how heterotaxy-associated defects were described, diagnosed, and reported. Although there are known associated characteristics with the polysplenia\/asplenia syndromes, correct identification requires a standardized approach for diagnosis and reporting.<\/jats:p>","DOI":"10.2350\/13-11-1406-oa.1","type":"journal-article","created":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T11:05:27Z","timestamp":1397559927000},"page":"250-264","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":26,"title":["Defects in Laterality with Emphasis on Heterotaxy Syndromes with Asplenia and Polysplenia: An Autopsy Case Series at a Single Institution"],"prefix":"10.1177","volume":"17","author":[{"given":"Elizabeth C.","family":"Burton","sequence":"first","affiliation":[{"name":"Johns Hopkins Medicine, Department of Pathology, Autopsy Division, Pathology building, Room B106, 600 N. 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