• J. Thorac. Cardiovasc. Surg. · Feb 2015

    Review

    Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

    • Dianna M Milewicz and Ellen S Regalado.
    • John Ritter Research Program in Aortic and Vascular Diseases, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Tex. Electronic address: Dianna.M.Milewicz@uth.tmc.edu.
    • J. Thorac. Cardiovasc. Surg. 2015 Feb 1; 149 (2 Suppl): S3-5.

    AbstractThe major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections. Medical treatments can slow the enlargement of aneurysms, but the mainstay of treatment to prevent premature death resulting from dissection is surgical repair of the thoracic aortic aneurysm, which is typically recommended when the aortic diameter reaches 5.0 to 5.5 cm. Studies of patients with acute aortic dissections, however, indicate that as many as 60% of dissections occur at aortic diameters smaller than 5.5 cm. Clinical predictors are therefore needed to distinguish those at risk for dissection at an aortic diameter smaller than 5.0 cm and to determine the aortic diameter that justifies the risk of surgical repair to prevent an acute aortic dissection. Data from genetic studies during the past decade have established that mutations in specific genes can distinguish patients at risk for the disease and predict the risk of early dissection at diameters smaller than 5.0 cm. This information has the potential to optimize the timing of aortic surgery to prevent acute dissections. Copyright © 2015 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

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