title: Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation.
abstract: True aneurysms of the internal mammary artery are rare and have been described in association with vasculitis or connective tissue disorders. Herein, we describe 2 cases of familial internal mammary artery aneurysms (IMAs) in 2 sisters with SMAD3 mutation. The older sister presented at the age of 54 years with an incidental diagnosis of a multilobed right IMA and the younger sister presented several years earlier with a ruptured left IMA aneurysm at the age of 49 years. Both sisters had Debakey type I aortic dissections prior to the IMA aneurysm presentation. To our knowledge, this is the first time IMA aneurysms have been described in siblings with SMAD3 mutation. In our experience, endovascular repair is a feasible and safe treatment option. An assessment of the entire arterial tree is recommended in patients diagnosed with SMAD3 mutations.
authors.affiliation: Department of Surgery, Division of Vascular Surgery, University of Washington, Seattle, WA. Electronic address: daiva@uw.edu.
authors.forename: Daiva
authors.initials: D
authors.lastname: Nevidomskyte
authors.affiliation: Department of Surgery, Division of Vascular Surgery, University of Washington, Seattle, WA.
authors.forename: Sherene
authors.initials: S
authors.lastname: Shalhub
authors.affiliation: Department of Surgery, Division of Cardiothoracic Surgery, University of Washington, Seattle, WA.
authors.forename: Gabriel S
authors.initials: GS
authors.lastname: Aldea
authors.affiliation: Department of Pathology, University of Washington, Seattle, WA; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA.
authors.forename: Peter H
authors.initials: PH
authors.lastname: Byers
authors.affiliation: Department of Pathology, University of Washington, Seattle, WA.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schwarze
authors.affiliation: Department of Pathology, University of Washington, Seattle, WA; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA.
authors.forename: Mitzi L
authors.initials: ML
authors.lastname: Murray
authors.affiliation: Department of Surgery, Division of Vascular Surgery, University of Washington, Seattle, WA.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Starnes
mesh_terms: D000783:Aneurysm / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D019917:Blood Vessel Prosthesis Implantation; D000072226:Computed Tomography Angiography; D004252:DNA Mutational Analysis; D057510:Endovascular Procedures; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D008297:Male; D008323:Mammary Arteries / Q000000981:diagnostic imaging / Q000601:surgery*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D051900:Smad3 Protein / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: C497790:SMAD3 protein, human; D051900:Smad3 Protein