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Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Ellen S Regalado1, Dong-chuan Guo1, Siddharth Prakash1

  • 1Departments of Internal Medicine (E.S.R., D.G., S.P., T.A.B., K.F., D.M.M.), Cardiothoracic and Vascular Surgery (A.E., H.S.), University of Texas Health Science Center at Houston; Department of Medicine, Stanford University Medical Center, CA (D.L.); Connective Tissue Gene Tests, Allentown, PA (J.H.); Department of Cardiac and Vascular Sciences, St. George's, University of London, London, United Kingdom (A.C., G.A.); AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France (C.B., G.J.), Université Paris 7, Paris, France (C.B., G.J.), AP-HP, Hôpital Bichat, Laboratoire de Génétique moléculaire, Boulogne, France (C.B.), and INSERM, U1148, Paris, France (C.B., G.J.); AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France (G.J.); Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO (A.B.); Genomic Medicine Institute, Cleveland Clinic, OH (R.M.); Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan (T.M., H.M.); Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.P.); Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX (J.C., S.L.); and Texas Heart Institute and Baylor St. Luke's Medical Center, Houston (J.C., S.L.).

Circulation. Cardiovascular Genetics
|March 12, 2015
PubMed
Summary

ACTA2 gene mutations frequently cause thoracic aortic aneurysms and dissections. While 48% of individuals experienced aortic events, lifetime risk is 76%, indicating other factors influence disease.

Keywords:
ACTA2aortic diseasesaortic dissectionfamilial aortic dissectiongenetics

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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Aortic Diseases

Background:

  • Actin alpha 2 (ACTA2) mutations are the primary genetic cause of familial thoracic aortic aneurysms and dissections (FTAAD).
  • Understanding the clinical spectrum and outcomes associated with ACTA2 mutations is crucial for patient management.

Purpose of the Study:

  • To characterize the aortic diseases, management strategies, and outcomes in a large cohort of individuals with ACTA2 mutations.

Main Methods:

  • Retrospective review of medical records for 277 individuals with 41 distinct ACTA2 mutations.
  • Data abstracted included aortic events, management, and outcomes.

Main Results:

  • Aortic events occurred in 48% of individuals, predominantly thoracic aortic dissections (88%) with 25% mortality.
  • Type A dissections were more common (54%) but Type B dissections had a younger onset (median 27 years).
  • Cumulative risk of an aortic event by age 85 was 0.76; specific mutations (p.R179, p.R258) increased risk, while others (p.R185Q, p.R118Q) showed lower risk.

Conclusions:

  • ACTA2 mutations confer a high risk of acute aortic dissection.
  • The lifetime risk of 76% suggests that environmental or other genetic factors contribute to the expression of aortic disease.