The genetic basis of thoracic aortic disease: The future of aneurysm classification?
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Published version
Author(s)
Type
Journal Article
Abstract
The expansion in the repertoire of genes linked to thoracic aortic aneurysms (TAA) has revolutionised our understanding of the disease process. The clinical benefits of such progress are numerous, particularly helping our understanding of non-syndromic hereditary causes of TAA (HTAAD) and further refinement in the subclassification of disease. Furthermore, the understanding of aortic biomechanics and mechanical homeostasis has been significantly informed by the discovery of deleterious mutations and their effect on aortic phenotype. The drawbacks in genetic testing in TAA lie with the inability to translate genotype to accurate prognostication in the risk of thoracic aortic dissection (TAD), which is a life-threatening condition. Under current guidelines, there are no metrics by which those at risk for dissection with normal aortic diameters may undergo preventive surgery. Future research lies with more advanced genetic diagnosis of HTAAD and investigation of the diverse pathways involved in its pathophysiology, which will i) serve to improve our understanding of the underlying mechanisms, ii) improve guidelines for treatment and iii) prevent complications for HTAAD and sporadic aortopathies.
Date Issued
2023
Date Acceptance
2022-09-25
Citation
Hellenic Journal of Cardiology, 2023, 69, pp.41-50
ISSN
1109-9666
Publisher
Hellenic Cardiological Society
Start Page
41
End Page
50
Journal / Book Title
Hellenic Journal of Cardiology
Volume
69
Copyright Statement
© 2022 Hellenic Society of Cardiology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/36202327
PII: S1109-9666(22)00142-7
Subjects
Thoracic aortic aneurysms (TAA)
aortic dissection
genotype
hereditary aortic aneurysms and dissection
polymorphisms
syndromic
Humans
Aortic Diseases
Aortic Aneurysm, Thoracic
Genetic Testing
Aortic Dissection
Aorta
Publication Status
Published
Coverage Spatial
Netherlands
Date Publish Online
2022-10-03