| Literature DB >> 26264107 |
K A Jones1, A M T L Choong, N Canham2, S Renton1, R Pollitt3, M Nesbitt3, D Kopcke4, L Islam5, J Buckley6, N Ghali, A Vandersteen.
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.Entities:
Keywords: Aneurysmosis; Ehlers–Danlos syndrome; Genetics; Loeys–Dietz syndrome; Marfan syndrome
Mesh:
Year: 2015 PMID: 26264107 PMCID: PMC5096559 DOI: 10.1308/003588415X14181254790121
Source DB: PubMed Journal: Ann R Coll Surg Engl ISSN: 0035-8843 Impact factor: 1.891