Marfan Syndrome

Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, encoding fibrillin-1, a key structural component of microfibrils essential for connective tissue integrity. Fibrillin dysfunction affects multiple body systems: skeletal (tall stature, long limbs, arachnodactyly, pectus deformities, scoliosis), ocular (lens dislocation, myopia, astigmatism), and cardiovascular (aortic root dilation, aortic dissection, mitral valve prolapse). The most serious manifestation is progressive aortic root dilation, which can lead to aortic dissection and rupture, a life-threatening emergency. Without cardiovascular monitoring and treatment, aortic dissection can occur suddenly and be fatal. Beta-blockers and ARBs (angiotensin receptor blockers) slow aortic dilation and reduce dissection risk. Surgical repair of severely dilated aortas can be lifesaving. Life expectancy for individuals with Marfan syndrome has improved dramatically with modern cardiovascular surveillance and management.