**2. Body**

The Marfan syndrome (MFS) is an autosomal dominantly inherited disorder of connective tissue with multisystem involvement. It is caused by mutations in the *FBN1* gene on chromosome 15, which encodes a glycoprotein called fibrillin-1, a component of the extracellular matrix. Over 1700 mutations have been identified in the fibrillin-1 gene associated with MFS, other genes related with the disease have been discovered and other disease-related genes with phenotypes very similar to this clinical syndrome (which need a thorough differential diagnosis) have been also identified. Because connective tissue is found throughout the body, MS can affect many body systems, including the ocular, cardiovascular, skeletal, and pulmonary Systems, as well as the skin and dura mater. The most serious signs and symptoms associated with MS involve the cardiovascular system; the cardiac complications, particularly aortic dilatation, dissection and rupture and involvement of the aortic and mitral valves, lead to a greatly reduced life expectancy.
