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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Medical Publishers
2018
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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. |
format | Online Article Text |
id | pubmed-6136681 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Thieme Medical Publishers |
record_format | MEDLINE/PubMed |
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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