Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome

P. I. Rossi, L. A. Scher, S. G. Friedman, M. H. Hall, R. A. Boxer, M. G. Bialer

Research output: Contribution to journalArticle

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)549-551
Number of pages3
JournalJournal of Vascular Surgery
Volume27
Issue number3
DOIs
StatePublished - Jan 1 1998

ASJC Scopus subject areas

  • Surgery
  • Cardiology and Cardiovascular Medicine

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