A highly penetrant ACTA2 mutation of thoracic aortic disease

A highly penetrant ACTA2 mutation of thoracic aortic disease

Abstract Background The role of ACTA2 mutations in Familial Aortic Disease has been increasingly recognized. We describe a highly penetrant variant (R118Q) in a family with aortic disease. Case report A patient presented to us for elective repair of an ascending aortic aneurysm with a family history...

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Bibliographic Details
Main Authors: Christopher M. Bobba, Ryan Azarrafiy, John R. Spratt, Jill Hendrickson, Tomas D. Martin, George J. Arnaoutakis, Eric I. Jeng, Thomas M. Beaver
Format: Article
Language:English
Published: BMC 2023-12-01
Series:Journal of Cardiothoracic Surgery
Subjects:
Aorta
Aortic arch
Aortic operation
Aortic genetics
Online Access:https://doi.org/10.1186/s13019-023-02420-0

Internet

https://doi.org/10.1186/s13019-023-02420-0

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