A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease
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Choong, AMTL
Canham, N
Renton, S
Pollitt, R
Nesbitt, M
Kopcke, D
Islam, L
Buckley, J
Ghali, N
Vandersteen, A
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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.
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Annals of the Royal College of Surgeons of England
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97
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5
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Clinical sciences