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Genetics of Thoracic and Abdominal Aortic Diseases Aneurysms, Dissections, and Ruptures
Journal article   Open access   Peer reviewed

Genetics of Thoracic and Abdominal Aortic Diseases Aneurysms, Dissections, and Ruptures

Amelie Pinard, Gregory T. Jones and Dianna M. Milewicz
Circulation research, Vol.124(4), pp.588-606
15/02/2019
Handle:
https://hdl.handle.net/10523/46978

Abstract

aorta aortic aneurysm genes genetic association studies mutation prevalence rupture
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.
url
https://doi.org/10.1161/CIRCRESAHA.118.312436View
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