Sanger sequencing of FBN1 and panel sequencing including FBN1 as well as a number of other genes associated with inherited aortopathies are commonly used to identify mutations [6]; however, both of these methods have a limitation for detecting FBN1 large deletions (del) or duplications (dup), which have been reported in up to 7% of MFS patients [7]. This evidence concerns the gene FBN1 and Marfan syndrome.