Abstract
Background: Marfan syndrome (MFS) is an inherited connective-tissue disorder, caused by a mutation in the FBN1 gene. Diagnosis of MFS relies on revised Ghent criteria (RGC) with three cardinal clinical symptoms: dilatation of sinus of Valsalva (SV), ectopia lentis (EL), and systemic manifestation (Sys). We analyzed prevalence and age of manifestation of cardinal symptoms according to RGC in patients with and without FBN1. Finally, we also wanted to evaluate whether it is suggestive to distinguish patients with or without FBN1 mutation concerning regular follow-up and prophylaxis.
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