Marfan syndrome is an inherited multisystemic connective-tissue disease that is 
caused by a mutation of the fibrillin-1 gene. The syndrome is characterized by a 
wide range of clinical manifestations. Common cardiovascular manifestations, 
most of which are substantial contributors to mortality, include annuloaortic 
ectasia with or without aortic valve insufficiency, aortic dissection, aortic 
aneurysm, pulmonary artery dilatation, and mitral valve prolapse. Scoliosis, 
pectus excavatum and carinatum, arachnodactyly, and acetabular protrusion are 
common musculoskeletal manifestations. Dural ectasia is a characteristic central 
nervous system manifestation. In some patients with Marfan syndrome, there is 
also pulmonary and ocular involvement. Early identification and treatment of 
these conditions contribute to an improved quality of life and a life expectancy 
close to the average for the general population in the United States. 
Radiologists play a key role in the diagnosis of Marfan syndrome. Knowledge 
about the various manifestations of Marfan syndrome and awareness of their 
radiologic appearances permit a comprehensive diagnostic approach that allows 
better patient care.