1.1 Definition and prevalence Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder involving the cardiovascular, skeletal and ocular systems, the integument, lungs and dura. Cardinal manifestations include aortic aneurysm and dissection, ocular lens dislocation and long bone overgrowth. In 90-93% of cases, MFS is caused by mutations in FBN1. Mutations in a second gene, TGFB...