Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome Academic Article Article uri icon

Overview

MeSH Major

  • Carotid Artery, Internal
  • Carotid Stenosis
  • Endarterectomy, Carotid

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.

publication date

  • May 1998

Research

keywords

  • Academic Article

Identity

Digital Object Identifier (DOI)

  • 10.1016/S0741-5214(98)70331-3

PubMed ID

  • 9546243

Additional Document Info

start page

  • 549

end page

  • 51

volume

  • 27

number

  • 3