Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycys...

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Main Authors: Marcelo Cury, Fernanda Zeidan, Armando C. Lobato
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:International Journal of Vascular Medicine
Online Access:http://dx.doi.org/10.1155/2013/267215
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author Marcelo Cury
Fernanda Zeidan
Armando C. Lobato
author_facet Marcelo Cury
Fernanda Zeidan
Armando C. Lobato
author_sort Marcelo Cury
collection DOAJ
description There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.
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series International Journal of Vascular Medicine
spelling doaj-art-8d4292f7bfc640f695b56b768d337a412025-02-03T06:45:18ZengWileyInternational Journal of Vascular Medicine2090-28242090-28322013-01-01201310.1155/2013/267215267215Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and DissectionsMarcelo Cury0Fernanda Zeidan1Armando C. Lobato2Instituto de Cirurgia Vascular e Endovascular (ICVE), São Paulo, SP, BrazilInstituto de Cirurgia Vascular e Endovascular (ICVE), São Paulo, SP, BrazilInstituto de Cirurgia Vascular e Endovascular (ICVE), São Paulo, SP, BrazilThere are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.http://dx.doi.org/10.1155/2013/267215
spellingShingle Marcelo Cury
Fernanda Zeidan
Armando C. Lobato
Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
International Journal of Vascular Medicine
title Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
title_full Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
title_fullStr Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
title_full_unstemmed Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
title_short Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
title_sort aortic disease in the young genetic aneurysm syndromes connective tissue disorders and familial aortic aneurysms and dissections
url http://dx.doi.org/10.1155/2013/267215
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