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

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 sequela...

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Bibliographic Details
Published in:Canadian journal of cardiology 2017-04, Vol.33 (4), p.554.e1-554.e3
Main Authors: Keir, Michelle, MD, Al-Jundi, Wissam, MD, Ouzounian, Maral, MD, PhD, Crean, Andrew M., MRCP, FRCR, Hemeon, Suzanne, BScN, RN, Horsburgh, Sheri, MSc, CCGC, Forbes, Thomas L., MD, Oechslin, Erwin N., MD
Format: Article
Language:English
Subjects:
Actins - genetics
Actins - metabolism
Adult
Aneurysm - diagnosis
Aneurysm - genetics
Aneurysm - surgery
Axillary Artery
Cardiovascular
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
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Summary: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.
ISSN:0828-282X
1916-7075
DOI:10.1016/j.cjca.2016.12.020