Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome

Ann Thorac Surg. 2013 Jan;95(1):332-5. doi: 10.1016/j.athoracsur.2012.05.085. Epub 2012 Dec 25.

Abstract

The aneurysms-osteoarthritis syndrome (AOS) was recently described and encompasses multiple aneurysms and tortuosity of the great arteries. Most patients have early-onset osteoarthritis. We report the diagnosis, treatment, and follow-up of a patient presenting with bilateral aneurysms of the common iliac arteries and an ascending aortic aneurysm. After proper surgical treatment, genetic studies revealed a causal mutation in the SMAD3 gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aortic Aneurysm, Thoracic / complications*
  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / genetics
  • DNA / genetics
  • Diagnosis, Differential
  • Disease Progression
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Humans
  • Iliac Aneurysm / complications*
  • Iliac Aneurysm / diagnosis
  • Iliac Aneurysm / genetics
  • Magnetic Resonance Angiography
  • Mutation
  • Osteoarthritis / complications*
  • Osteoarthritis / diagnosis
  • Osteoarthritis / genetics
  • Smad3 Protein / genetics
  • Syndrome

Substances

  • SMAD3 protein, human
  • Smad3 Protein
  • DNA