Article Abstract

Genetic testing to modulate when to operate in thoracic aortic disease

Authors: Valentyna Kostiuk, Adam J. Brownstein, Bulat A. Ziganshin, John A. Elefteriades

Abstract

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.