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

作者:Jones K A; Choong A M T L*; Canham N; Renton S; Pollitt R; Ne**itt M; Kopcke D; Islam L; Buckley J; Ghali N; Vandersteen A
来源:Annals of the Royal College of Surgeons of England, 2015, 97(5): E73-E76.
DOI:10.1308/003588415X14181254790121

摘要

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.

  • 出版日期2015-7

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