scholarly journals Diagnostic approach and management of genetic aortopathies

2020 ◽  
Vol 25 (1) ◽  
pp. 63-77
Author(s):  
Rohan Bhandari ◽  
Rajani D Aatre ◽  
Yogendra Kanthi
Keyword(s):  
Clinical Practice ◽  
Abdominal Aorta ◽  
Molecular Mechanisms ◽  
Clinical Presentation ◽  
Aortic Aneurysms ◽  
Genetic Etiology ◽  
Thoracic Aortic Aneurysms ◽  
The Past ◽  
Sequencing Technologies ◽  
Treatment Considerations

Aortic aneurysms were the primary cause of nearly 10,000 deaths in 2014 according to data from the Centers for Disease Control and may involve segments of the thoracic or abdominal aorta. Thoracic aortic aneurysms and dissections are more commonly associated with an underlying genetic etiology. In the past several decades, in parallel with the burst of new genome sequencing technologies, a number of genetic aortopathies have been identified. These have provided important insights into the molecular mechanisms of aneurysmal disease, but pose challenges in clinical practice as there are limited consensus recommendations at this time. In this review, we aim to address the pathophysiology, clinical presentation, and treatment considerations in the key heritable thoracic aortopathies.

Diseases of the Aorta

2018 ◽  
Author(s):  
Anna M Booher ◽  
Kim A Eagle
Keyword(s):  
Aortic Dissection ◽  
Thoracic Aortic Aneurysm ◽  
Clinical Presentation ◽  
Abdominal Aortic Aneurysms ◽  
Aortic Aneurysms ◽  
Type B ◽  
Thoracic Aortic Aneurysms ◽  
Computed Tomographic ◽  
Abdominal Aortic ◽  
Acute Aortic Syndromes

This review covers the major presentations affecting the aorta: aortic aneurysms (abdominal aortic aneurysms and thoracic aortic aneurysms), acute aortic syndromes (including aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer), other nonacute aortic processes, and traumatic disease of the aorta. The section on abdominal aortic aneurysms covers screening, clinical presentation, diagnostic evaluation, management to reduce the risk of aneurysm rupture, open surgical treatment and endovascular aortic repair, and the role of medical therapy. The section on thoracic aortic aneurysms also covers pathophysiology, etiology, and inherited and inflammatory conditions. Aortic dissections affect either the ascending aorta (type A) or the descending aorta (type B) and may be classified as acute or chronic. The discussion of aortic dissection describes the clinical presentation, diagnostic steps and decisions, and treatment for both type A and type B dissections. The figures include two algorithms: a potential management strategy for patients with thoracic aortic aneurysm and a logical procedure for the evaluation and treatment of a suspected aortic dissection. Figures also include illustrations, computed tomographic images, and echocardiograms of various aortic presentations. Tables list normal aortic dimensions by computed tomographic angiography and echocardiography, etiology and associated factors in diseases of the aorta, revised Ghent criteria for the diagnosis of Marfan syndrome, size criteria for elective surgical intervention in thoracic aortic aneurysm, and independent predictors of in-hospital death. Also included is a follow-up imaging timeline for acute aortic syndromes. This review contains 9 figures, 6 tables, and 132 references.

scholarly journals Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice

Aorta ◽  
2013 ◽  
Vol 1 (2) ◽  
pp. 135-145 ◽  
Author(s):  
Julie De Backer ◽  
Marjolijn Renard ◽  
Laurence Campens ◽  
Katrien François ◽  
Bert Callewaert ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Daily Clinical Practice ◽  
Aortic Aneurysms ◽  
Thoracic Aortic Aneurysms ◽  
Genetic Techniques

scholarly journals Abdominal Aortic Aneurysm: Roles of Inflammatory Cells

2021 ◽  
Vol 11 ◽  
Author(s):  
Zhen Yuan ◽  
Yi Lu ◽  
Jia Wei ◽  
Jiaqi Wu ◽  
Jin Yang ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Inflammatory Cells ◽  
Aortic Aneurysms ◽  
Interaction Networks ◽  
Pharmacological Interventions ◽  
The Past ◽  
Extracellular Traps ◽  
Abdominal Aortic ◽  
Direct Cell ◽  
New Strategies

Abdominal aortic aneurysms (AAAs) are local dilations of infrarenal segment of aortas. Molecular mechanisms underlying the pathogenesis of AAA remain not fully clear. However, inflammation has been considered as a central player in the development of AAA. In the past few decades, studies demonstrated a host of inflammatory cells, including T cells, macrophages, dendritic cells, neutrophils, B cells, and mast cells, etc. infiltrating into aortic walls, which implicated their crucial roles. In addition to direct cell contacts and cytokine or protease secretions, special structures like inflammasomes and neutrophil extracellular traps have been investigated to explore their functions in aneurysm formation. The above-mentioned inflammatory cells and associated structures may initiate and promote AAA expansion. Understanding their impacts and interaction networks formation is meaningful to develop new strategies of screening and pharmacological interventions for AAA. In this review, we aim to discuss the roles and mechanisms of these inflammatory cells in AAA pathogenesis.

Diseases of the Aorta

2017 ◽  
Author(s):  
Anna M Booher ◽  
Kim A Eagle
Keyword(s):  
Aortic Dissection ◽  
Thoracic Aortic Aneurysm ◽  
Clinical Presentation ◽  
Abdominal Aortic Aneurysms ◽  
Aortic Aneurysms ◽  
Type B ◽  
Thoracic Aortic Aneurysms ◽  
Computed Tomographic ◽  
Abdominal Aortic ◽  
Acute Aortic Syndromes

This review covers the major presentations affecting the aorta: aortic aneurysms (abdominal aortic aneurysms and thoracic aortic aneurysms), acute aortic syndromes (including aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer), other nonacute aortic processes, and traumatic disease of the aorta. The section on abdominal aortic aneurysms covers screening, clinical presentation, diagnostic evaluation, management to reduce the risk of aneurysm rupture, open surgical treatment and endovascular aortic repair, and the role of medical therapy. The section on thoracic aortic aneurysms also covers pathophysiology, etiology, and inherited and inflammatory conditions. Aortic dissections affect either the ascending aorta (type A) or the descending aorta (type B) and may be classified as acute or chronic. The discussion of aortic dissection describes the clinical presentation, diagnostic steps and decisions, and treatment for both type A and type B dissections. The figures include two algorithms: a potential management strategy for patients with thoracic aortic aneurysm and a logical procedure for the evaluation and treatment of a suspected aortic dissection. Figures also include illustrations, computed tomographic images, and echocardiograms of various aortic presentations. Tables list normal aortic dimensions by computed tomographic angiography and echocardiography, etiology and associated factors in diseases of the aorta, revised Ghent criteria for the diagnosis of Marfan syndrome, size criteria for elective surgical intervention in thoracic aortic aneurysm, and independent predictors of in-hospital death. Also included is a follow-up imaging timeline for acute aortic syndromes. This review contains 9 figures, 6 tables, and 132 references.

scholarly journals TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections

2018 ◽  
Vol 19 (7) ◽  
pp. 2125 ◽  
Author(s):  
Norifumi Takeda ◽  
Hironori Hara ◽  
Takayuki Fujiwara ◽  
Tsubasa Kanaya ◽  
Sonoko Maemura ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Molecular Mechanisms ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Aortic Aneurysms ◽  
Loss Of Function ◽  
Angiotensin Ii Receptor ◽  
Thoracic Aortic Aneurysms ◽  
Structural Weakness ◽  
History Of

Transforming growth factor-β (TGF)-β signaling plays a crucial role in the development and maintenance of various organs, including the vasculature. Accordingly, the mutations in TGF-β signaling pathway-related genes cause heritable disorders of the connective tissue, such as Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and Shprintzen-Goldberg syndrome (SGS), and these syndromes may affect skeletal, ocular, pulmonary, and cardiovascular systems. Aortic root aneurysms are common problems that can result in aortic dissection or rupture, which is the leading cause of sudden death in the natural history of MFS and LDS, and recent improvements in surgical treatment have improved life expectancy. However, there is currently no genotype-specific medical treatment. Accumulating evidence suggest that not only structural weakness of connective tissue but also increased TGF-β signaling contributes to the complicated pathogenesis of aortic aneurysm formation, but a comprehensive understanding of governing molecular mechanisms remains lacking. Inhibition of angiotensin II receptor signaling and endothelial dysfunction have gained attention as a possible MFS treatment strategy, but interactions with TGF-β signaling remain elusive. Heterozygous loss-of-function mutations in TGF-β receptors 1 and 2 (TGFBR1 and TGFBR2) cause LDS, but TGF-β signaling is activated in the aorta (referred to as the TGF-β paradox) by mechanisms yet to be elucidated. In this review, we present and discuss the current understanding of molecular mechanisms responsible for aortopathies of MFS and related disorders.

scholarly journals The Role of Genetics in Risk Stratification of Thoracic Aortic Aneurysm Dissection

Hearts ◽  
2020 ◽  
Vol 1 (2) ◽  
pp. 50-61
Author(s):  
Jotte Rodrigues Bento ◽  
Josephina A.N. Meester ◽  
Ilse Luyckx ◽  
Aline Verstraeten ◽  
Bart L. Loeys
Keyword(s):  
Genetic Risk ◽  
Thoracic Aortic Aneurysm ◽  
Elective Surgery ◽  
Aortic Aneurysms ◽  
Risk Markers ◽  
Additional Risk ◽  
Thoracic Aortic Aneurysms ◽  
The Past ◽  
Aneurysm Dissection

Thoracic aortic aneurysms are prevalent in the Western population and are often caused by genetic defects. If undetected, aneurysms can dissect or rupture, which are events associated with a high mortality rate. Hitherto no cure exists other than elective surgery if aneurysm dimensions reach a certain threshold. In the past decades, genotype-phenotype associations have emerged that enable clinicians to start stratifying patients according to risk for dissection. Nonetheless, risk assessment is—to this day—confounded by the lack of full comprehension of underlying genetics and modifying genetic risk factors that complicate the yet established genotype-phenotype correlations. Further research that focuses on identifying these additional risk markers is crucial.

Diseases of the Aorta

2013 ◽  
Author(s):  
Anna M Booher ◽  
Kim A Eagle
Keyword(s):  
Aortic Dissection ◽  
Thoracic Aortic Aneurysm ◽  
Clinical Presentation ◽  
Abdominal Aortic Aneurysms ◽  
Aortic Aneurysms ◽  
Type B ◽  
Thoracic Aortic Aneurysms ◽  
Computed Tomographic ◽  
Abdominal Aortic ◽  
Acute Aortic Syndromes

This review covers the major presentations affecting the aorta: aortic aneurysms (abdominal aortic aneurysms and thoracic aortic aneurysms), acute aortic syndromes (including aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer), other nonacute aortic processes, and traumatic disease of the aorta. The section on abdominal aortic aneurysms covers screening, clinical presentation, diagnostic evaluation, management to reduce the risk of aneurysm rupture, open surgical treatment and endovascular aortic repair, and the role of medical therapy. The section on thoracic aortic aneurysms also covers pathophysiology, etiology, and inherited and inflammatory conditions. Aortic dissections affect either the ascending aorta (type A) or the descending aorta (type B) and may be classified as acute or chronic. The discussion of aortic dissection describes the clinical presentation, diagnostic steps and decisions, and treatment for both type A and type B dissections. The figures include two algorithms: a potential management strategy for patients with thoracic aortic aneurysm and a logical procedure for the evaluation and treatment of a suspected aortic dissection. Figures also include illustrations, computed tomographic images, and echocardiograms of various aortic presentations. Tables list normal aortic dimensions by computed tomographic angiography and echocardiography, etiology and associated factors in diseases of the aorta, revised Ghent criteria for the diagnosis of Marfan syndrome, size criteria for elective surgical intervention in thoracic aortic aneurysm, and independent predictors of in-hospital death. Also included is a follow-up imaging timeline for acute aortic syndromes. This review contains 9 figures, 6 tables, and 132 references.

Diseases of the Aorta

2017 ◽  
Author(s):  
Anna M Booher ◽  
Kim A Eagle
Keyword(s):  
Aortic Dissection ◽  
Thoracic Aortic Aneurysm ◽  
Clinical Presentation ◽  
Abdominal Aortic Aneurysms ◽  
Aortic Aneurysms ◽  
Type B ◽  
Thoracic Aortic Aneurysms ◽  
Computed Tomographic ◽  
Abdominal Aortic ◽  
Acute Aortic Syndromes

This review covers the major presentations affecting the aorta: aortic aneurysms (abdominal aortic aneurysms and thoracic aortic aneurysms), acute aortic syndromes (including aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer), other nonacute aortic processes, and traumatic disease of the aorta. The section on abdominal aortic aneurysms covers screening, clinical presentation, diagnostic evaluation, management to reduce the risk of aneurysm rupture, open surgical treatment and endovascular aortic repair, and the role of medical therapy. The section on thoracic aortic aneurysms also covers pathophysiology, etiology, and inherited and inflammatory conditions. Aortic dissections affect either the ascending aorta (type A) or the descending aorta (type B) and may be classified as acute or chronic. The discussion of aortic dissection describes the clinical presentation, diagnostic steps and decisions, and treatment for both type A and type B dissections. The figures include two algorithms: a potential management strategy for patients with thoracic aortic aneurysm and a logical procedure for the evaluation and treatment of a suspected aortic dissection. Figures also include illustrations, computed tomographic images, and echocardiograms of various aortic presentations. Tables list normal aortic dimensions by computed tomographic angiography and echocardiography, etiology and associated factors in diseases of the aorta, revised Ghent criteria for the diagnosis of Marfan syndrome, size criteria for elective surgical intervention in thoracic aortic aneurysm, and independent predictors of in-hospital death. Also included is a follow-up imaging timeline for acute aortic syndromes. This review contains 9 figures, 6 tables, and 132 references.

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