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

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

Can J Cardiol. 2017 Apr;33(4):554.e1-554.e3. doi: 10.1016/j.cjca.2016.12.020. Epub 2017 Jan 17.

Authors

Michelle Keir¹, Wissam Al-Jundi², Maral Ouzounian³, Andrew M Crean⁴, Suzanne Hemeon¹, Sheri Horsburgh⁵, Thomas L Forbes², Erwin N Oechslin⁶

Affiliations

¹ Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada.
² Division of Vascular Surgery, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada.
³ Division of Cardiac Surgery, Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada.
⁴ 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.
⁵ Division of Genetic Medicine, University of Toronto, Toronto, Ontario, Canada.
⁶ Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada. Electronic address: [email protected].

PMID: 28343608
DOI: 10.1016/j.cjca.2016.12.020

Abstract

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.

Publication types

Case Reports

MeSH terms

Actins / genetics*
Actins / metabolism
Adult
Aneurysm / diagnosis
Aneurysm / genetics
Aneurysm / surgery*
Axillary Artery*
DNA / genetics
DNA Mutational Analysis
Follow-Up Studies
Humans
Ischemia / diagnosis
Ischemia / genetics
Ischemia / surgery*
Male
Mutation, Missense*
Upper Extremity / blood supply*
Vascular Surgical Procedures / methods*

Substances

ACTA2 protein, human
Actins
DNA