Regalado ES, Guo DC, Prakash S, et al. Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. Circ Cardiovasc Genet. 2015;8(3):457-464. doi:10.1161/CIRCGENETICS.114.000943
This research paper was published in 2015 by Dr. Dianna Milewicz’s research group. It features the first large case series of individuals with ACTA2 variants – 277 people. Included are probability estimates for aortic aneurysm/dissection and the clinical presentation of ACTA2-related aortic disease. The authors compare outcomes of ACTA2 patients with other genes and recommend that significant differences in clinical complications s support gene and variant specific clinical management.