Article

A Highly Penetrant ACTA2 Mutation Variant of Thoracic Aortic Disease

2023-01-18

Abstract excerpt

<h4>Background: </h4> ACTA2 mutation for 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 aneurysm with a family history of his mother expiring after aortic dissection. Genetic testing revealed he was a heterozygous carrier of the ACTA2 missense mutati...

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Literature Corpus work: 42d1d59e-6203-5c0e-ac2f-63df30c57d12
DOI: 10.21203/rs.3.rs-2476466/v1

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