Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve.
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.
Gathungu
Grace N
GN
Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
Pashankar
Dinesh S
DS
Sarita-Reyes
Carmen D
CD
Zambrano
Eduardo
E
Reyes-Mugica
Miguel
M
Brueckner
Martina
M
Mistry
Pramod K
PK
Husain
Sohail Z
SZ
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