title: Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections.
abstract: Life expectancy in vascular Ehlers-Danlos syndrome (EDS) is shortened due to spontaneous rupture of arteries, the colon and the gravid uterus. Two adolescent males with vascular EDS illustrate rapid progression of arterial aneurysms, dissections, and rupture. Radiologic imaging played an important role in initially diagnosing and monitoring the evolution of arterial involvement. Both prophylactic and emergency management remain largely ineffective in this connective tissue disorder; however, noninvasive imaging may provide important prognostic information.
authors: Department of Radiology, The Raymond and Ruth Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA. eduardo.barbosa@uphs.upenn.edu
authors: Eduardo J
authors: EJ
authors: Mortani Barbosa
authors: Reed E
authors: RE
authors: Pyeritz
authors: Harold
authors: H
authors: Litt
authors: Benoit
authors: B
authors: Desjardins
mesh_terms: D000293:Adolescent; D000328:Adult; D000783:Aneurysm / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D000784:Aortic Dissection / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D017542:Aneurysm, Ruptured / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics; D001158:Arteries; D002648:Child; D002675:Child, Preschool; D024061:Collagen Type III / Q000235:genetics; D018450:Disease Progression; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites; D011859:Radiography; D012422:Rupture, Spontaneous; D055815:Young Adult
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III; D022821:RNA Splice Sites