Management of Bilateral Axillary Aneurysms, Threatened Limb, and Diffuse Vasculopathy in a Patient With ACTA2 Mutation

Michelle Keir; Wissam Al-Jundi; Maral Ouzounian; Andrew M. Crean; Suzanne Hemeon; Sheri Horsburgh; Thomas L. Forbes; Erwin N. Oechslin

doi:10.1016/j.cjca.2016.12.020

Case Report
Management of Bilateral Axillary Aneurysms, Threatened Limb, and Diffuse Vasculopathy in a Patient With ACTA2 Mutation

Michelle Keir, Wissam Al-Jundi, Maral Ouzounian, Andrew M. Crean, Suzanne Hemeon, Sheri Horsburgh, Thomas L. Forbes, Erwin N. Oechslin

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Canadian Journal of Cardiology > 2017 > 33 > 4 > 554.e1-554.e3

We describe the case of a 36-year-old man with bilateral axillary artery aneurysms and a threatened upper limb. We postulate that his aneurysms and diffuse vasculopathy resulted from a missense mutation identified in his ACTA2 gene known to be highly pathogenic. The risk factors and sequelae of axillary aneurysms are reviewed, with a focus on their surgical management and the effect of ACTA2 mutations on the cardiorespiratory system.

Nous décrivons le cas d’un homme de 36 ans ayant subi des anévrysmes de l’artère axillaire bilatéraux et ayant un membre supérieur en danger. Nous posons comme postulat que ses anévrysmes et sa vasculopathie diffuse résultaient d’une mutation faux-sens décelée dans le gène ACTA2 connu comme étant fortement pathogène. Nous passons en revue les facteurs de risque et les séquelles des anévrysmes de l’artère axillaire, et mettons l’accent sur la prise en charge chirurgicale et l’effet des mutations du gène ACTA2 sur le système cardiorespiratoire.

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journal ISSN :	0828-282X
DOI	10.1016/j.cjca.2016.12.020

Authors

Michelle Keir

Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada

Wissam Al-Jundi

Division of Vascular Surgery, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada

Maral Ouzounian

Division of Cardiac Surgery, Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada

Andrew M. Crean

Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada
Joint Department of Medical Imaging, University Health Network, Toronto, Ontario, Canada

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Publication languages: English

Data set: Elsevier

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Elsevier Science

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Michelle Keir

Wissam Al-Jundi

Maral Ouzounian

Andrew M. Crean

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Case Report
Management of Bilateral Axillary Aneurysms, Threatened Limb, and Diffuse Vasculopathy in a Patient With ACTA2 Mutation