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

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Title: A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease
Author(s): Jones, KA
Choong, AM
Canham, N
Renton, S
Pollitt, R
Nesbitt, M
Kopcke, D
Islam, L
Buckley, J
Ghali, N
Vandersteen, A
Item Type: Journal Article
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.
Publication Date: 24-Jun-2015
Date of Acceptance: 6-Feb-2015
URI: http://hdl.handle.net/10044/1/39912
DOI: http://dx.doi.org/10.1308/003588415X14181254790121
ISSN: 1478-7083
Publisher: Royal College of Surgeons of England
Start Page: e73
End Page: e76
Journal / Book Title: Annals of the Royal College of Surgeons of England
Volume: 97
Issue: 5
Copyright Statement: © 2015 The Royal College of Surgeons of England
Copyright Statement: © 2015 The Royal College of Surgeons of England
Keywords: Aneurysmosis
Ehlers–Danlos syndrome
Genetics
Loeys–Dietz syndrome
Marfan syndrome
Aneurysm
DNA Mutational Analysis
Ehlers-Danlos Syndrome
Female
Humans
Male
Middle Aged
Vascular Surgical Procedures
Humans
Aneurysm
Ehlers-Danlos Syndrome
Vascular Surgical Procedures
DNA Mutational Analysis
Middle Aged
Female
Male
Surgery
1103 Clinical Sciences
Publication Status: Published
Appears in Collections:Faculty of Medicine
Epidemiology, Public Health and Primary Care



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