A review of thoracic aortic aneurysm disease

Abstract

Aortic diseases may be diagnosed after a long period of subclinical development or they may have an acute presentation. Acute aortic syndrome is often the first sign of the disease, which needs rapid diagnosis and decision making to reduce the extremely poor prognosis. Aortic dilatation is a well-recognised risk factor for acute events and can occur as a result of trauma, infection, or, most commonly, from an intrinsic abnormality in the elastin and collagen components of the aortic wall. Over the years it has become clear that a few monogenic syndromes are strongly associated with aneurysms and often dictate a severe presentation in younger patients while the vast majority have a multifactorial pathogenesis. Conventional cardiovascular risk factors and ageing play an important role. Management strategy is based on prevention consisting of regular follow-up with cross-sectional imaging, chemoprophylaxis of further dilatation with drugs proved to slow down the disease progression and preventative surgery when dimension exceeds internationally recognised cut-off values for aortic diameters and the risk of rupture/dissection is therefore deemed very high.

Keywords: aortic aneurysm; aortic dilatation; aortic dissection; bicuspid aortic valve; inherited aortic disease.

Figure 1

Known genes with mutations associated with hereditary aortopathy.

Figure 2

(A) long-axis view of aortic root measuring a maximum of 3.8 cm; (B) seven years later long-axis view of aortic root measuring a maximum of 6.2 cm which required urgent aortic surgery.

Figure 3

(A) MRA of aorta in patient with TGFBR1 mutation; (B) MRA demonstrating type B dissection and rapid expansion of descending aorta six months later.

Figure 4

(A) Mild tortuosity and looping of the head and neck vessels in a young patient with confirmed TGFBR1 mutation and (B) marked cerebral vessel tortuosity in a young man with genotype negative gross aortic root dilatation.

Figure 5

Embryological origins of the vascular smooth muscle cells of the thoracic aorta. (A) Stanford type A thoracic aortic dissection and (B) Stanford type B thoracic aortic dissection.