Structure and function of the aorta in inherited and congenital heart disease and the role of MRI

1 2 In prototypical diseases such as Marfan syndrome and BAV disease, loss of fibrillin-1 microfibrils has been reported to dissociate smooth muscle cells from the medial matrix components, resulting in accelerated cell death and matrix disruption. 3 Matrix metalloproteinases (MMPs)-endogenous enzymes that degrade the matrix components-become activated in fibrillin-1 deficient tissues, degrading the structural support of the aorta. 3 Similar focal abnormalities within the aortic media have recently been described in coarctation, ToF, and TGA. 1 2 Whether these aortic wall changes result from an intrinsic medial abnormality or are secondary to haemodynamic states before and after surgical repair (or both) is unknown. 1 2 Whatever the aetiology of aortic wall pathology given this heterogeneity, aortic dilatation and reduced aortic elasticity will evolve in all entities when loss of structural support of the aortic wall progresses. 1 2 With advancing age, the aortic wall structure undergoes unfavourable changes resulting in a decline in aortic elasticity and an increase in aortic circumference. 1 w1 Arterial hypertension, atherosclerosis, and other cardiovascular risk factors such as smoking, hypercholesterolaemia, and diabetes may all lead to atheroma formation that may progress to aortic dissection and rupture due to similar degenerative processes in the extracellular matrix and the vasa vasorum. [...]the negative sequelae related to ageing and these cardiovascular risk factors will have an additional impact on already existing aortic wall abnormalities, and adversely affect the long term prognosis in affected CHD patients. [...]non-invasive monitoring of aortic dimensions and elasticity, aortic valve competence, and LV function is clinically highly desirable in all affected CHD patients.