Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype

Ann Vasc Surg. 2015 Apr;29(3):595.e11-4. doi: 10.1016/j.avsg.2014.10.036. Epub 2015 Jan 15.

Abstract

Unlike vascular Ehlers-Danlos syndrome (EDS), classic EDS is rarely associated with vascular manifestation. We report the case of a 39-year-old man who presented with acute abdominal pain. At the time of presentation, the patient was in hypovolemic shock, and computed tomography angiogram demonstrated common iliac artery dissection with rupture. He underwent an attempted endovascular repair that was converted to an open repair of a ruptured right common iliac artery dissection. Subsequent genetic testing revealed a substitution of arginine for cysteine in type I collagen, COL1A1 exon 14 c.934C>T mutation, consistent with a rare variant of classic EDS.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Pain / etiology
  • Acute Pain / etiology
  • Adult
  • Aneurysm, Ruptured / diagnosis
  • Aneurysm, Ruptured / etiology*
  • Aneurysm, Ruptured / surgery
  • Aortic Dissection / diagnosis
  • Aortic Dissection / etiology*
  • Aortic Dissection / surgery
  • Blood Vessel Prosthesis Implantation
  • Collagen Type I / genetics
  • Collagen Type I, alpha 1 Chain
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Iliac Aneurysm / diagnosis
  • Iliac Aneurysm / etiology*
  • Iliac Aneurysm / surgery
  • Male
  • Mutation
  • Phenotype
  • Risk Factors
  • Rupture, Spontaneous
  • Shock / etiology
  • Tomography, X-Ray Computed
  • Treatment Outcome

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain