Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder caused by fibrillin-1 (FBN1) gene mutations with a prevalence of 6.5/100,000.1 There are more than 3000 different FBN1 pathogenic variants with difficult-to-predict genotype-phenotype correlations. This evidence concerns the gene FBN1 and connective tissue disorder.