Abstract
The aneurysms-osteoarthritis syndrome (AOS) was recently described and encompasses multiple aneurysms and tortuosity of the great arteries. Most patients have early-onset osteoarthritis. We report the diagnosis, treatment, and follow-up of a patient presenting with bilateral aneurysms of the common iliac arteries and an ascending aortic aneurysm. After proper surgical treatment, genetic studies revealed a causal mutation in the SMAD3 gene.
Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aortic Aneurysm, Thoracic / complications*
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Aortic Aneurysm, Thoracic / diagnosis
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Aortic Aneurysm, Thoracic / genetics
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DNA / genetics
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Diagnosis, Differential
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Disease Progression
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Follow-Up Studies
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Genetic Predisposition to Disease
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Humans
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Iliac Aneurysm / complications*
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Iliac Aneurysm / diagnosis
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Iliac Aneurysm / genetics
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Magnetic Resonance Angiography
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Mutation
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Osteoarthritis / complications*
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Osteoarthritis / diagnosis
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Osteoarthritis / genetics
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Smad3 Protein / genetics
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Syndrome
Substances
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SMAD3 protein, human
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Smad3 Protein
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DNA