A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease
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Published version
Author(s)
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.
Date Issued
2015-06-24
Date Acceptance
2015-02-06
Citation
Annals of the Royal College of Surgeons of England, 2015, 97 (5), pp.e73-e76
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
Subjects
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
Surgery
1103 Clinical Sciences
Publication Status
Published