Key result
Molecular profiling of specific genes in thoracic aortic aneurysm patients correlates with disease progression severity and helps identify optimal surgical treatment options.
Genetic testing and molecular profiling in patients with thoracic aortic aneurysm can guide surgical decision-making based on the risk of disease progression.
May aid risk stratification for thoracic aortic aneurysm surgery; leaves open prospective validation before practice change.
Current classification of familial thoracic aortic aneurysm (TAA) includes two subtypes: syndromic, which is characterized by the involvement of multiple organs, and non-syndromic, where the damage is confined to the aortic tissue only. Positive family history for both syndromic and non-syndromic TAA suggests a connection between molecular genetics and TAA development. Multiple genes have been identified in TAA including those involved in the TGF-β signaling pathway, smooth muscle cell function and the structural integrity of the extracellular matrix. The knowledge about specific genes identified in TAA patients allows for the correlation between molecular profiling and the severity of the disease progression. More importantly, this information can be utilized to identify the most optimal surgical treatment options for TAA patients. This review discusses the current information regarding the TAA molecular genetics and surgical treatment options based on molecular profiling.
No takes yet. Share an insight, caveat, or question.
Kostiuk et al. (2018) conducted a review in Thoracic aortic aneurysm (TAA). Genetic testing and molecular profiling was evaluated. Molecular profiling of specific genes in thoracic aortic aneurysm patients correlates with disease progression severity and helps identify optimal surgical treatment options.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: