Golledge, Jonathan (2022) New Genomic Techniques Provide Novel Insights Into Ascending Aortic Aneurysm Pathology. Arteriosclerosis, Thrombosis and Vascular Biology, 42 (11). pp. 1375-1377.

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Abstract

[Extract] Rupture or dissection of a thoracic aortic aneurysm (TAAD) is a rare but frequently fatal disease that imposes a considerable social and economic burden. It was estimated that in 2010, thoracic aortic dissection repairs represented 3 of 100 000 Medicare patients in the United States.1 Since that time, developments in surgical techniques (eg, endovascular stent grafts) have led to a marked expansion in both the frequency of repairs and cost of management, which was estimated to be ≈$39M in Ontario Canada in 2016.2 The main current treatment for thoracic aortic aneurysms is surgical repair. There has been substantial effort over the past 2 decades to improve understanding of disease pathogenesis in order to develop personalized management including drug therapies. These studies have identified that, unlike abdominal aortic aneurysms, multiple monogenic pathogenic variants contribute to TAAD. These include mutations in genes encoding proteins within and controlling the aortic extracellular matrix, such as elastin, fibrillin, lysyl oxidase, multiple types of collagen and actin, and the TGF (transforming growth factor) β pathway.3 About 20% of TAAD have a clear inherited cause but in the other cases no monogenic cause can be identified and these are considered sporadic aortic aneurysms.

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