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Genetics of aortic disease

Boekbijdrage - Hoofdstuk

This chapter discusses the genetic background of diseases of the aorta. The focus will be on aneurysms and dissection of the aorta, which will collectively be designated as Heritable (Thoracic) Aortic Disease (H(T)AD)). H(T)AD comprises a heterogeneous group of disorders with as a common denominator aortic aneurysm or dissection on one or several levels of the aorta. Depending on the presence or absence of manifestations in other organ systems, H(T)AD is further subdivided into syndromic and nonsyndromic H(T)AD. For both clinical entities, multiple underlying gene defects have been identified, although it should be acknowledged that in a substantial number of patients and families, especially in the nonsyndromic group, no causal variant is identifiable, defining them as “Heritable” but strictly speaking not (yet) as “Genetic.” We will discuss the main syndromic forms of H(T)AD and elaborate on the current strategies for genetic testing in this context.
Boek: Biomechanics of the aorta : modeling for patient care
Series: Biomechanics of living organs
Pagina's: 17 - 48
ISBN:9780323954853
Jaar van publicatie:2024
Toegankelijkheid:Closed