title: Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome.
abstract: We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers-Danlos Syndrome are briefly reviewed.
authors.affiliation: Department of Surgery, North Shore University Hospital/New York University School of Medicine, Manhasset 11030, USA.
authors.forename: P I
authors.initials: PI
authors.lastname: Rossi
authors.forename: L A
authors.initials: LA
authors.lastname: Scher
authors.forename: S G
authors.initials: SG
authors.lastname: Friedman
authors.forename: M H
authors.initials: MH
authors.lastname: Hall
authors.forename: R A
authors.initials: RA
authors.lastname: Boxer
authors.forename: M G
authors.initials: MG
authors.lastname: Bialer
mesh_terms: D000293:Adolescent; D017541:Aneurysm, False / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D001706:Biopsy; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019838:Neck Injuries / Q000150:complications*; D017354:Point Mutation; D011347:Procollagen / Q000235:genetics; D013348:Subclavian Artery; D014952:Wrestling / Q000293:injuries*
chemical_list: D011347:Procollagen