After the discovery of the defect in fibrillin 1 gene (FBN1) as the mechanism underlying pathogenesis of MFS, and the identification of first causative mutation in 1991 [6–8], there are currently over 1300 mutations in HGMD database referred to MFS and over 3000 entries in UMD-FBN1 mutations database (http://www.umd.be/FBN1/). This evidence concerns the gene FBN1 and Marfan syndrome.