Current Evidence and Insights about Genetics in Thoracic Aorta Disease

Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic dise...

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Main Authors: Gianluigi Bisleri, Lorenzo Bagozzi, Claudio Muneretto
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1155/2013/962097
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author Gianluigi Bisleri
Lorenzo Bagozzi
Claudio Muneretto
author_facet Gianluigi Bisleri
Lorenzo Bagozzi
Claudio Muneretto
author_sort Gianluigi Bisleri
collection DOAJ
description Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve.
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spelling doaj-art-5e9567c93b7f4c30804ffffe7da935772025-02-03T06:06:20ZengWileyThe Scientific World Journal1537-744X2013-01-01201310.1155/2013/962097962097Current Evidence and Insights about Genetics in Thoracic Aorta DiseaseGianluigi Bisleri0Lorenzo Bagozzi1Claudio Muneretto2Division of Cardiac Surgery, University of Brescia Medical School, Cardiochirurgia SSVD, Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, ItalyDivision of Cardiac Surgery, University of Brescia Medical School, Cardiochirurgia SSVD, Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, ItalyDivision of Cardiac Surgery, University of Brescia Medical School, Cardiochirurgia SSVD, Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, ItalyThoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve.http://dx.doi.org/10.1155/2013/962097
spellingShingle Gianluigi Bisleri
Lorenzo Bagozzi
Claudio Muneretto
Current Evidence and Insights about Genetics in Thoracic Aorta Disease
The Scientific World Journal
title Current Evidence and Insights about Genetics in Thoracic Aorta Disease
title_full Current Evidence and Insights about Genetics in Thoracic Aorta Disease
title_fullStr Current Evidence and Insights about Genetics in Thoracic Aorta Disease
title_full_unstemmed Current Evidence and Insights about Genetics in Thoracic Aorta Disease
title_short Current Evidence and Insights about Genetics in Thoracic Aorta Disease
title_sort current evidence and insights about genetics in thoracic aorta disease
url http://dx.doi.org/10.1155/2013/962097
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