BACKGROUND: Biliary atresia (BA) is associated with extrahepatic congenital malformations in a minority of affected infants. The term commonly applied to this subgroup is 'BASM' for biliary atresia splenic malformation syndrome, as spleen abnormalities are prominent. AIMS AND METHODS: To examine clinical outcome in Canadian BA patients with extrahepatic congenital malformations in the Canada-wide BA database of patients born between 1985 and 2002, and additionally, to recharacterized the syndrome. Patients had ≥1 of the following: a/polysplenia, abnormal abdominal situs, intestinal malrotation, abdominal vascular anomaly or congenital heart disease. RESULTS: Among 328 BA patients, 44 (13%) had associated congenital abnormalities. Intra-abdominal anomalies included polysplenia (n=25), abnormal abdominal situs (n=9), intestinal malrotation (n=19), portal vein anomaly (n=12), hepatic artery anomaly (n=3) and inferior vena cava interruption (n=20). Twenty-six patients had cardiac malformations including pulmonary stenosis (n=11), ventricular septal defect (n=10), atrial septal defect (n=7), total anomalous pulmonary venous return (n=3), double outlet right ventricle (n=3), tetralogy of Fallot (n=2), atrioventricular canal (n=2), dextrocardia (n=2), bicuspid aortic valve (n=2), hypoplastic left heart (n=1) and partial anomalous pulmonary venous return (n=1). Age at Kasai operation, performance of liver transplant, overall survival, post-Kasai native liver survival and transplant survival were comparable to isolated BA. Presence of polysplenia or complex cardiac disease did not reduce post-Kasai native liver survival. Three patients had ≥2 typical abnormalities without polysplenia: thus, splenic malformations are not essential to this BA subgroup. Hierarchical cluster analysis demonstrated characteristic abnormalities grouped in a multiplicity of combinations, consistent with a spectrum of defective lateralization. CONCLUSION: We suggest that the acronym 'BASM' be redefined as 'biliary atresia structural malformation'.
BACKGROUND:Biliary atresia (BA) is associated with extrahepatic congenital malformations in a minority of affected infants. The term commonly applied to this subgroup is 'BASM' for biliary atresia splenic malformation syndrome, as spleen abnormalities are prominent. AIMS AND METHODS: To examine clinical outcome in Canadian BA patients with extrahepatic congenital malformations in the Canada-wide BA database of patients born between 1985 and 2002, and additionally, to recharacterized the syndrome. Patients had ≥1 of the following: a/polysplenia, abnormal abdominal situs, intestinal malrotation, abdominal vascular anomaly or congenital heart disease. RESULTS: Among 328 BA patients, 44 (13%) had associated congenital abnormalities. Intra-abdominal anomalies included polysplenia (n=25), abnormal abdominal situs (n=9), intestinal malrotation (n=19), portal vein anomaly (n=12), hepatic artery anomaly (n=3) and inferior vena cava interruption (n=20). Twenty-six patients had cardiac malformations including pulmonary stenosis (n=11), ventricular septal defect (n=10), atrial septal defect (n=7), total anomalous pulmonary venous return (n=3), double outlet right ventricle (n=3), tetralogy of Fallot (n=2), atrioventricular canal (n=2), dextrocardia (n=2), bicuspid aortic valve (n=2), hypoplastic left heart (n=1) and partial anomalous pulmonary venous return (n=1). Age at Kasai operation, performance of liver transplant, overall survival, post-Kasai native liver survival and transplant survival were comparable to isolated BA. Presence of polysplenia or complex cardiac disease did not reduce post-Kasai native liver survival. Three patients had ≥2 typical abnormalities without polysplenia: thus, splenic malformations are not essential to this BA subgroup. Hierarchical cluster analysis demonstrated characteristic abnormalities grouped in a multiplicity of combinations, consistent with a spectrum of defective lateralization. CONCLUSION: We suggest that the acronym 'BASM' be redefined as 'biliary atresia structural malformation'.
Authors: Kathleen B Schwarz; Barbara H Haber; Philip Rosenthal; Cara L Mack; Jeffrey Moore; Kevin Bove; Jorge A Bezerra; Saul J Karpen; Nanda Kerkar; Benjamin L Shneider; Yumirle P Turmelle; Peter F Whitington; Jean P Molleston; Karen F Murray; Vicky L Ng; René Romero; Kasper S Wang; Ronald J Sokol; John C Magee Journal: Hepatology Date: 2013-09-19 Impact factor: 17.425
Authors: John-Paul Berauer; Anya I Mezina; David T Okou; Aniko Sabo; Donna M Muzny; Richard A Gibbs; Madhuri R Hegde; Pankaj Chopra; David J Cutler; David H Perlmutter; Laura N Bull; Richard J Thompson; Kathleen M Loomes; Nancy B Spinner; Ramakrishnan Rajagopalan; Stephen L Guthery; Barry Moore; Mark Yandell; Sanjiv Harpavat; John C Magee; Binita M Kamath; Jean P Molleston; Jorge A Bezerra; Karen F Murray; Estella M Alonso; Philip Rosenthal; Robert H Squires; Kasper S Wang; Milton J Finegold; Pierre Russo; Averell H Sherker; Ronald J Sokol; Saul J Karpen Journal: Hepatology Date: 2019-03-21 Impact factor: 17.425
Authors: Sophia R Cameron-Christie; Justin Wilde; Andrew Gray; Rick Tankard; Melanie Bahlo; David Markie; Helen M Evans; Stephen P Robertson Journal: BMC Med Genomics Date: 2018-12-18 Impact factor: 3.063
Authors: André Hoerning; Simon Raub; Alexander Dechêne; Michelle N Brosch; Simone Kathemann; Peter F Hoyer; Patrick Gerner Journal: Front Pediatr Date: 2014-06-23 Impact factor: 3.418