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Review
. 2022 Jul 22;12(8):1785.
doi: 10.3390/diagnostics12081785.

Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection

Rosina De Cario  1 , Marco Giannini  1 , Giulia Cassioli  1 , Ada Kura  1 , Anna Maria Gori  1 , Rossella Marcucci  1 , Stefano Nistri  2 , Guglielmina Pepe  1   3 , Betti Giusti  1   3 , Elena Sticchi  1   3
Affiliations
Review

Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection

Rosina De Cario et al. Diagnostics (Basel). .

Abstract

The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and "elusive", as it generally grows asymptomatically prior to rupture, leading to death in the majority of cases. Gender differences exist in aortic dissection in terms of incidence and treatment options. Efforts have been made to identify biomarkers that may help in early diagnosis and in detecting those patients at a higher risk of developing life-threatening complications. As soon as the hereditability of the TAA/D was demonstrated, several genetic factors were found to be associated with both the syndromic and non-syndromic forms of the disease, and they currently play a role in patient diagnosis/prognosis and management-guidance purposes. Likewise, circulating biomarker could represent a valuable resource in assisting the diagnosis, and several studies have attempted to identify specific molecules that may help with risk stratification outside the emergency department. Even if promising, those data lack specificity/sensitivity, and, in most cases, they need more testing before entering the "clinical arena". This review summarizes the state of the art of the laboratory in TAA/D diagnostics, with particular reference to the current and future role of molecular-genetic testing.

Keywords: biomarkers; differential diagnosis; genetic diagnosis; genetics; review; syndromic aortopathies; thoracic aortic aneurysm and dissection.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Schematization of the ECM main components. Genes codifying each component are reported in red (created with BioRender.com (accessed on 13 May 2022)).
Figure 2
Figure 2
Schematization of the main components of the SMCs compartment. Genes codifying each component are reported in red (created in BioRender.com (accessed on 13 May 2022)).
Figure 3
Figure 3
Schematization of the main components of TGF-β signaling. Genes codifying each component are reported in red (created in BioRender.com (accessed on 13 May 2022)).
See this image and copyright information in PMC

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