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Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To...

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Autores principales: Brownstein, Adam J., Kostiuk, Valentyna, Ziganshin, Bulat A., Zafar, Mohammad A., Kuivaniemi, Helena, Body, Simon C., Bale, Allen E., Elefteriades, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2018
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136681/
https://www.ncbi.nlm.nih.gov/pubmed/30079932
http://dx.doi.org/10.1055/s-0038-1639612
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author Brownstein, Adam J.
Kostiuk, Valentyna
Ziganshin, Bulat A.
Zafar, Mohammad A.
Kuivaniemi, Helena
Body, Simon C.
Bale, Allen E.
Elefteriades, John A.
author_facet Brownstein, Adam J.
Kostiuk, Valentyna
Ziganshin, Bulat A.
Zafar, Mohammad A.
Kuivaniemi, Helena
Body, Simon C.
Bale, Allen E.
Elefteriades, John A.
author_sort Brownstein, Adam J.
collection PubMed
description Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To date, 30 genes have been shown to be associated with the development of TAAD and ∼30% of individuals with nonsyndromic familial TAAD have a pathogenic mutation in one of these genes. This review represents the authors' yearly update summarizing the genes associated with TAAD, including implications for the surgical treatment of TAAD. Molecular genetics will continue to revolutionize the approach to patients afflicted with this devastating disease, permitting the application of genetically personalized aortic care.
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spelling pubmed-61366812018-09-14 Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications Brownstein, Adam J. Kostiuk, Valentyna Ziganshin, Bulat A. Zafar, Mohammad A. Kuivaniemi, Helena Body, Simon C. Bale, Allen E. Elefteriades, John A. Aorta (Stamford) Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To date, 30 genes have been shown to be associated with the development of TAAD and ∼30% of individuals with nonsyndromic familial TAAD have a pathogenic mutation in one of these genes. This review represents the authors' yearly update summarizing the genes associated with TAAD, including implications for the surgical treatment of TAAD. Molecular genetics will continue to revolutionize the approach to patients afflicted with this devastating disease, permitting the application of genetically personalized aortic care. Thieme Medical Publishers 2018-07-27 /pmc/articles/PMC6136681/ /pubmed/30079932 http://dx.doi.org/10.1055/s-0038-1639612 Text en https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brownstein, Adam J.
Kostiuk, Valentyna
Ziganshin, Bulat A.
Zafar, Mohammad A.
Kuivaniemi, Helena
Body, Simon C.
Bale, Allen E.
Elefteriades, John A.
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications
title Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications
title_full Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications
title_fullStr Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications
title_full_unstemmed Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications
title_short Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications
title_sort genes associated with thoracic aortic aneurysm and dissection: 2018 update and clinical implications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136681/
https://www.ncbi.nlm.nih.gov/pubmed/30079932
http://dx.doi.org/10.1055/s-0038-1639612
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