title: Defects in laterality with emphasis on heterotaxy syndromes with asplenia and polysplenia: an autopsy case series at a single institution.
abstract: 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.
authors.affiliation: 1  Johns Hopkins Medicine, Department of Pathology, Autopsy Division, Pathology building, Room B106, 600 N. Wolfe Street, Baltimore, MD 21287-6417.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Burton
authors.forename: Michelle
authors.initials: M
authors.lastname: Olson
authors.forename: Lisa
authors.initials: L
authors.lastname: Rooper
mesh_terms: D000293:Adolescent; D001344:Autopsy; D015142:Baltimore; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D059446:Heterotaxy Syndrome / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007422:Intestines / Q000002:abnormalities*; D008099:Liver / Q000002:abnormalities*; D008168:Lung / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D011379:Prognosis; D012189:Retrospective Studies; D012857:Situs Inversus / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D013154:Spleen / Q000002:abnormalities*; D013270:Stomach / Q000002:abnormalities*
keywords: asplenia; atrial isomerism; heterotaxy syndrome; polysplenia; situs inversus