ACTA2 mutations are responsible for disease in approximately 20% of families with thoracic aortic aneurysms and dissections(TAAD). Dr. Milewicz directs the John Ritter Research Program and her research group identified ACTA2 as a gene that causes TAAD in 2009. The Milewicz group has now published an analysis of clinical data collected from a large group of people (close to 300) who have ACTA2 mutations. This information is important in medical management of patients with ACTA2 mutations. The publication can be accessed by clicking on the article “Aortic Disease Presentation and Outcome Associated with ACTA2 Mutations” available here.
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