Introduction: Aortopathy is a term which encompasses all disorders of the aortic wall, not solely aneurysm, acknowledging that size is not the sole contributor to aortic complications. The commonest, and potentially preventable, cause of death in aortopathy is acute aortic dissection. This arises when regional wall stress leads to intimal disruption, separation of the intima and media, and development of a false lumen. Subsequent complications such as aortic rupture or acute aortic valve insufficiency contribute to the considerable mortality rate associated with this condition.
Approximately 25% of aortic dissections have an identifiable genetic basis. Individuals with familial aortopathy may present with a syndromic (associated with a phenotypic presentation) or nonsyndromic (pure vascular type) variant. In syndromic aortopathies, aortic disease is an overwhelming contributor to morbidity and mortality. For example, over 90% of Marfan syndrome (MFS) deaths relate to aortic complications. Familial aortopathies account for the majority of aortic dissections in younger age groups (<40s). Current management includes surveillance, lifestyle adjustment, pharmacological therapies, and prophylactic or emergent aortic surgery. Genetic counselling plays an additional role.
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