Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder associated with abnormalities of the cardiovascular, ocular and musculoskeletal systems. Aortopathy, manifest as thoracic aortic aneurysm (TAA) and dissection, is the major cause of morbidity and mortality. Most individuals with MFS carry mutations in the gene FBN1. This gene encodes the extracellular matrix (ECM) protein fibrillin-1, which plays essential roles in the formation of microfibrils, organisation of ECM components and sequestration of growth factors such as transforming growth factor beta (TGFβ). Thus, mutations in FBN1 lead to deleterious biomechanical effects and aberrant signalling pathway activation within the aorta and other affected tissues.
Though autosomal dominant, MFS has wide phenotypic variability. For example, the age of onset, severity and rate of progression of TAA is currently unpredictable. These gaps in knowledge pose important limitations in clinical decision making with respect to timing of elective surgery, frequency of imaging follow-up, physical activity...
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