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


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.

SUBMITTER: Jones KA 

PROVIDER: S-EPMC5096559 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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

Jones K A KA   Choong A M T L AM   Canham N N   Renton S S   Pollitt R R   Nesbitt M M   Kopcke D D   Islam L L   Buckley J J   Ghali N N   Vandersteen A A  

Annals of the Royal College of Surgeons of England 20150701 5


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.  ...[more]

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