Genetics of Thoracic and Abdominal Aortic Diseases

  • Amélie Pinard
    From the Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School; University of Texas Health Science Center at Houston (A.P., D.M.M.)
  • Gregory T. Jones
    Department of Surgical Sciences, Dunedin School of Medicine, University of Otago, New Zealand (G.T.J.).
  • Dianna M. Milewicz
    From the Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School; University of Texas Health Science Center at Houston (A.P., D.M.M.)

書誌事項

タイトル別名
  • Aneurysms, Dissections, and Ruptures

抄録

<jats:p>Dissections or ruptures of aortic aneurysms remain a leading cause of death in the developed world, with the majority of deaths being preventable if individuals at risk are identified and properly managed. Genetic variants predispose individuals to these aortic diseases. In the case of thoracic aortic aneurysm and dissections (thoracic aortic disease), genetic data can be used to identify some at-risk individuals and dictate management of the associated vascular disease. For abdominal aortic aneurysms, genetic associations have been identified, which provide insight on the molecular pathogenesis but cannot be used clinically yet to identify individuals at risk for abdominal aortic aneurysms. This compendium will discuss our current understanding of the genetic basis of thoracic aortic disease and abdominal aortic aneurysm disease. Although both diseases share several pathogenic similarities, including proteolytic elastic tissue degeneration and smooth muscle dysfunction, they also have several distinct differences, including population prevalence and modes of inheritance.</jats:p>

収録刊行物

  • Circulation Research

    Circulation Research 124 (4), 588-606, 2019-02-15

    Ovid Technologies (Wolters Kluwer Health)

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