The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection

Genetic predisposition and risk factors such as hypertension and smoking can instigate the development of thoracic aortic aneurysm (TAA), which can lead to highly lethal aortic wall dissection and or rupture. Monogenic defects in multiple genes involved in the elastin-contractile unit and the TGFβ s...

Full description

Saved in:
Bibliographic Details
Published in:Annual review of genomics and human genetics 2022-08, Vol.23 (1), p.223-253
Main Authors: Rodrigues Bento, Jotte, Meester, Josephina, Luyckx, Ilse, Peeters, Silke, Verstraeten, Aline, Loeys, Bart
Format: Article
Language:English
Subjects:
Angiotensin
Aortic aneurysms
Degeneration
Elastin
elastin-contractile unit
Epigenetics
genomics
Mitochondria
Muscle contraction
Phenotypes
Reactive oxygen species
Risk factors
Signal transduction
Smooth muscle
TGFβ signaling
thoracic aortic aneurysm
Thorax
vascular smooth muscle cells
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Genetic predisposition and risk factors such as hypertension and smoking can instigate the development of thoracic aortic aneurysm (TAA), which can lead to highly lethal aortic wall dissection and or rupture. Monogenic defects in multiple genes involved in the elastin-contractile unit and the TGFβ signaling pathway have been associated with TAA in recent years, along with several genetic modifiers and risk-conferring polymorphisms. Advances in omics technology have also provided significant insights into the processes behind aortic wall degeneration: inflammation, epigenetics, vascular smooth muscle phenotype change and depletion, reactive oxygen species generation, mitochondrial dysfunction, and angiotensin signaling dysregulation. These recent advances and findings might pave the way for a therapy that is capable of stopping and perhaps even reversing aneurysm progression.
ISSN:1527-8204
1545-293X
DOI:10.1146/annurev-genom-111521-104455