title: Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome.
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.
authors.affiliation: Department of Thoracic and Vascular Surgery, University Hospital Gent, Gent, Belgium. thom.martens@ugent.be
authors.forename: Thomas
authors.initials: T
authors.lastname: Martens
authors.forename: Isabelle
authors.initials: I
authors.lastname: Van Herzeele
authors.forename: Frederic
authors.initials: F
authors.lastname: De Ryck
authors.forename: Marjolijn
authors.initials: M
authors.lastname: Renard
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
authors.forename: Katrien
authors.initials: K
authors.lastname: François
authors.forename: Frank
authors.initials: F
authors.lastname: Vermassen
authors.forename: Julie
authors.initials: J
authors.lastname: De Backer
mesh_terms: D000328:Adult; D017545:Aortic Aneurysm, Thoracic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D017543:Iliac Aneurysm / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D018810:Magnetic Resonance Angiography; D009154:Mutation; D010003:Osteoarthritis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D051900:Smad3 Protein / Q000235:genetics; D013577:Syndrome
chemical_list: C497790:SMAD3 protein, human; D051900:Smad3 Protein; D004247:DNA