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Inherited thoracic aortopathies denote a group of congenital conditions that predispose to disease of the thoracic aorta. Aortic wall weakness and abnormal aortic hemodynamic profiles predispose these patients to dilatation of the thoracic aorta, which is generally silent but can precipitate aortic dissection or rupture with devastating and often fatal consequences. Current strategies to assess the future risk of aortic dissection or rupture are based primarily on monitoring aortic diameter. However, diameter alone is a poor predictor of risk, with many patients experiencing dissection or rupture below current intervention thresholds. Developing tools that improve the risk assessment of those with aortopathy is internationally regarded as a research priority. A robust understanding of the molecular pathways that lead to aortic wall weakness is required to identify biomarkers and therapeutic targets that could improve patient management. Here, we summarize the current understanding of the genetically determined mechanisms underlying inherited aortopathies and critically appraise the available blood biomarkers, imaging techniques, and therapeutic targets that have shown promise for improving the management of patients with these important and potentially fatal conditions.

Original publication




Journal article



Publication Date





1570 - 1587


Marfan syndrome, aneurysm, dissecting, aortic aneurysm, bicuspid aortic valve, biomarkers, Aortic Dissection, Animals, Aorta, Thoracic, Aortic Aneurysm, Thoracic, Aortic Rupture, Biomarkers, Genetic Predisposition to Disease, Humans, Molecular Targeted Therapy, Phenotype, Predictive Value of Tests, Prognosis, Risk Assessment, Risk Factors, Signal Transduction, Translational Research, Biomedical, Vascular Surgical Procedures