A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease

Ann R Coll Surg Engl. 2015 Jul;97(5):e73-6. doi: 10.1308/003588415X14181254790121.

Abstract

We report two patients who presented with extensive aneurysmal disease, in association with minimal external physical signs. Patient 1 remained genetically undiagnosed despite multiple structural, biochemical and genetic investigations. He made a good recovery following surgery for popliteal and left axillary artery aneurysms. Patient 2 was diagnosed with vascular type Ehlers-Danlos syndrome, associated with a high degree of tissue and blood vessel fragility, and is being managed conservatively. Early multidisciplinary assessment of such patients facilitates accurate diagnosis and management.

Keywords: Aneurysmosis; Ehlers–Danlos syndrome; Genetics; Loeys–Dietz syndrome; Marfan syndrome.

Publication types

  • Case Reports

MeSH terms

  • Aneurysm / diagnosis
  • Aneurysm / genetics*
  • Aneurysm / surgery*
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / surgery
  • Female
  • Humans
  • Male
  • Middle Aged
  • Vascular Surgical Procedures