Management of Bilateral Axillary Aneurysms, Threatened Limb, and Diffuse Vasculopathy in a Patient With ACTA2 Mutation.
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.
Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada.
Michelle
M
Keir
Division of Vascular Surgery, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada.
Wissam
W
Al-Jundi
Division of Cardiac Surgery, Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada.
Maral
M
Ouzounian
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.
Andrew M
AM
Crean
Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada.
Suzanne
S
Hemeon
Division of Genetic Medicine, University of Toronto, Toronto, Ontario, Canada.
Sheri
S
Horsburgh
Division of Vascular Surgery, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada.
Thomas L
TL
Forbes
Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University of Toronto, Toronto, Ontario, Canada. Electronic address: erwin.oechslin@uhn.ca.
Erwin N
EN
Oechslin
D000199:Actins / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000783:Aneurysm / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D001366:Axillary Artery; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D006801:Humans; D007511:Ischemia / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D008297:Male; D020125:Mutation, Missense; D034941:Upper Extremity / Q000098:blood supply*; D014656:Vascular Surgical Procedures / Q000379:methods*
C541116:ACTA2 protein, human; D000199:Actins; D004247:DNA