Following a recent international meeting of experts, the Ghent nosology was revised and has now been been published in the Journal of Medical Genetics.
In the 2010 revised Ghent nosology, aortic root aneurysm and ectopia lentis are now cardinal features. In absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of Marfan syndrome (MFS). In absence of either of these two, the presence of bonafide FBN1 mutation or a combination of systemic features is required. For the latter, a new scoring system has been designed and validated. In this way, FBN1 testing is not mandatory but useful when available.
The 2010 revised Ghent nosology puts more weight on the cardiovascular manifestations of the disorder. It is anticipated that the 2010 nosology will delay a definitive diagnosis of MFS but decrease the risk of premature or missed diagnosis and facilitate discussion of risk and follow-up/management guidelines.