Marfan Syndrome: Always Evolving

Marfan syndrome was first described in 1896. It was not originally identified that aortic dilatation/rupture was a threat associated with this syndrome. This leads Reed Pyeritz to suggest that the original description did not present what is called today Marfan syndrome. However, even after the recognition of the aortic risk associated with the syndrome, the nosology continued to evolve leading to different diagnostic criteria.1 Molecular genetic studies associated FBN1 mutations with the majority of cases, and subsequently they recognized that TGFBR2 mutations could also be responsible for the same combination of clinical features, except severe ectopia lentis leading to surgery. See Article by Roman et al It is generally understood that Marfan syndrome is associated with tissue fragility, leading to ectopia lentis (secondary to structurally altered zonules), progressive aortic dilatation (secondary to disorganization of the medial elastic network) which may lead to aortic dissection and rupture, mitral valve prolapse (secondary to elongation of chordae), pneumothorax, striae, protrusia acetabulae, and excessive growth of bones responsible for pectus deformities, arachnodactyly, excessive arm span. The numerous systems affected make the diagnostic difficult, which is responsible for both over- and misdiagnosis, calling for international criteria. Positive or negative diagnosis is clearly more difficult in mildly affected pediatric patients, and the rule is therefore to propose regular follow-up until adulthood, that is, when it is agreed that significant clinical features should have appeared. Positive or negative diagnosis is also difficult in adult relatives with nonconclusive clinical features and at risk of developing life-threatening vascular complications. However, the larger use and availability of genetic …