title: Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve.
abstract: Microvillus inclusion disease is a life-threatening diarrheal disorder of infancy characterized by the presence of microvillus inclusions within the intestinal epithelium. We report a case of a neonate with microvillus inclusion disease that was associated with coarctation of the aorta and bicuspid aortic valve, cardiac malformations within the spectrum of left ventricular outlet tract obstruction. Possible links between the intestinal and cardiac phenotypes are discussed.
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Grace N
authors.initials: GN
authors.lastname: Gathungu
authors.forename: Dinesh S
authors.initials: DS
authors.lastname: Pashankar
authors.forename: Carmen D
authors.initials: CD
authors.lastname: Sarita-Reyes
authors.forename: Eduardo
authors.initials: E
authors.lastname: Zambrano
authors.forename: Miguel
authors.initials: M
authors.lastname: Reyes-Mugica
authors.forename: Martina
authors.initials: M
authors.lastname: Brueckner
authors.forename: Pramod K
authors.initials: PK
authors.lastname: Mistry
authors.forename: Sohail Z
authors.initials: SZ
authors.lastname: Husain
mesh_terms: D001017:Aortic Coarctation / Q000150:complications* / Q000000981:diagnostic imaging; D001021:Aortic Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000209:etiology* / Q000473:pathology; D004452:Echocardiography; D006801:Humans; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D008871:Microvilli; D014694:Ventricular Outflow Obstruction / Q000150:complications* / Q000151:congenital / Q000000981:diagnostic imaging