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Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies

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Mechanisms of Vascular Disease

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Abstract

Aortic aneurysm refers to a pathological dilatation of the aorta and predisposes to rupture and dissection. It is an important health problem, accounting for 1–2% of all deaths in the Western population. Thoracic aortic aneurysms (TAAs) have been more extensively studied than their abdominal counterparts because of greater heritability and earlier disease onset. Hitherto, mutations in more than 30 genes have been linked to TAA development. In general, TAA genes code for proteins involved in structural integrity and homeostasis of the extracellular matrix, vascular smooth muscle cell contractility or the TGF-β signalling pathway. Their discovery has led to new therapeutic avenues such as the TGF-β lowering agents, including angiotensin receptor blockers. However, additional research is still necessary to complete the pathomechanistic puzzle. In this chapter, we provide a comprehensive overview of the current knowledge of TAA pathology, the molecular TAA landscape and how elucidation of the latter is facilitating gene-tailored TAA management.

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  1. Cardiogenetics, Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium

    Mèlanie H. A. M. Perik, Aline Verstraeten & Bart L. Loeys

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  1. Mèlanie H. A. M. Perik
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  2. Aline Verstraeten
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  3. Bart L. Loeys
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Correspondence to Bart L. Loeys .

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  1. Discipline of Surgery, The University of Adelaide, Adelaide, SA, Australia

    Robert Fitridge

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Perik, M.H.A.M., Verstraeten, A., Loeys, B.L. (2020). Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies. In: Fitridge, R. (eds) Mechanisms of Vascular Disease. Springer, Cham. https://doi.org/10.1007/978-3-030-43683-4_13

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