Marfan

Marfan syndrome is a genetic disorder of the connective tissue caused by mutations in the FBN1 gene, which encodes fibrillin-1, a crucial component of elastic fibers. It is inherited in an autosomal dominant pattern with variable expressivity.

People are often tall with long, slender limbs and may have scoliosis, chest wall deformities, and joint hypermobility. The heart and blood vessels are frequently affected, notably dilation of the aortic root with risk of aneurysm and dissection, and mitral valve prolapse. Eye involvement includes ectopia lentis, myopia, and retinal detachment risk.

Diagnosis uses the Ghent criteria, integrating family history, major skeletal, ocular, and cardiovascular findings, and genetic testing for FBN1. Imaging, especially echocardiography, is central to monitoring.

Management is multidisciplinary and aims to prevent aortic complications and address significant issues. It may include beta-blockers or ARBs to slow aortic dilation, regular surveillance, lifestyle modification, and surgical repair for the aorta or valves when needed. Ophthalmologic and orthopedic care are common. Genetic counseling is advised.

Marfan syndrome was first described by Antoine Marfan in 1896. With ongoing surveillance and treatment, life expectancy has improved, though cardiovascular complications remain the major concern.