Revised diagnostic criteria for Marfan syndrome

In general terms, the diagnosis of Marfan syndrome (MFS) is relatively straightforward in many cases but can be difficult in others, especially children and adolescents.This international consensus statement on the diagnosis of MFS, written by a panel of acknowledged experts from Europe and the US, replaces the 1996 Ghent criteria which formed the basis of the Scottish Intercollegiate Guidelines Network (SIGN) Marfan syndrome guideline. 1The new Ghent nosology gives more diagnostic weight to the two key features of MFS, namely aortic root dilatation/aneurysm and ectopia lentis -so that, for example, an individual with both features can be diagnosed with MFS even in the absence of a positive family history or other physical features.Previous diagnostic categories (skeleton, skin, dura, lungs) have been resolved and simplified into a single 'systemic score'.The nosology also creates a more prominent role for mutation analysis of the FBN1 gene and other genes known to cause 'MFS-like' syndromes and gives guidance on when to considerand how to investigate -such alternative diagnoses.It offers brief guidance on clinical management, particularly of aortic disease.