Biological features of thoracic aortic diseases. Where are we now, where are we heading to: established and emerging biomarkers and molecular pathways

Abstract

Thoracic aortic aneurysms (TAAs) and aortic dissections (ADs) are among the main causes of mortality and morbidity in Western countries. For this reason, the diagnosis, prevention and prediction of TAAs and ADs have become a very active area of research; in fact, it is important to monitor and predict the evolution of these diseases over time. It is also critical, in cases of doubtful diagnosis, to receive some guidance from biochemical assays, particularly in the case of ADs. Although biological testing for disease prediction has already been discussed several times, the role of biomarkers in TAAs and ADs is still under discussion for routine patient screening, periodical follow-up or for prompt diagnosis in emergency conditions. In this review, we update the current knowledge and new trends regarding the role of biomarkers in thoracic aortic diseases, focusing on established and emerging biomarkers in the fields of genetics, inflammation, haemostasis and matrix remodelling as well as on substances released upon cell damage. Other than D-dimer, a sensitive but not a specific marker for the diagnosis of AD that has been widely tested by several authors and currently seems a viable option in ambiguous cases, the remaining markers have been most frequently assessed in limited or mixed patient populations. This currently precludes their widespread adoption as diagnostic or prognostic tools, even if many of these markers are conceptually promising. In years to come, we expect that future studies will further clarify the diagnostic and prognostic features of several established and emerging biomarkers that, to date, are still in the translational limbo separating biological discovery from a practical clinical role.