title: Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.
abstract: Mutations of the ACTA2 gene, which encodes the smooth muscle cell-specific isoform of α-actin protein, have recently been found to be among the most common genetic abnormalities observed in patients with familial thoracic aortic aneurysms/dissection (TAAD). Other reported vascular manifestations caused by these mutations include premature coronary artery disease and stroke. We report a young adult who presented with an acute brachial artery occlusion and was subsequently found to have aortopathy and an ACTA2 mutation. This expands the spectrum of vascular disease associated with ACTA2 mutation to include acute limb ischemia.
authors.affiliation: Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
authors.forename: Maha
authors.initials: M
authors.lastname: Al-Mohaissen
authors.forename: Judith E
authors.initials: JE
authors.lastname: Allanson
authors.forename: Michael D
authors.initials: MD
authors.lastname: O'Connor
authors.forename: John P
authors.initials: JP
authors.lastname: Veinot
authors.forename: Timothy M
authors.initials: TM
authors.lastname: Brandys
authors.forename: Gyaandeo
authors.initials: G
authors.lastname: Maharajh
authors.forename: Carole J
authors.initials: CJ
authors.lastname: Dennie
authors.forename: Luc M
authors.initials: LM
authors.lastname: Beauchesne
mesh_terms: D000199:Actins / Q000235:genetics*; D000293:Adolescent; D000925:Anticoagulants / Q000627:therapeutic use; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D001027:Aortography / Q000379:methods; D001157:Arterial Occlusive Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D001706:Biopsy; D001916:Brachial Artery / Q000000981:diagnostic imaging / Q000601:surgery; D003251:Constriction, Pathologic; D004252:DNA Mutational Analysis; D017128:Embolectomy; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007511:Ischemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D010641:Phenotype; D013927:Thrombosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: C541116:ACTA2 protein, human; D000199:Actins; D000925:Anticoagulants