Extended genetic testing (gene panel that included genes for aortopathies and WES) of ten patients who presented clinical signs specific to some syndromes that are associated with HTADs identified a likely pathogenic (LP) missense mutation in the FBN1 gene (FBN1 c.7343G>A, FBN1 c.5743C>T, FBN1 c.6806T>C and FBN1 c.3023G>A) in eight of them, and the result correlated with a clinical suspicion of Marfan syndrome (MS) (Table 2). The gene discussed is FBN1; the disease is Marfan syndrome.