[New diagnostic criteria in Marfan syndrome]

Marfan's syndrome is a relatively frequent autosomal dominant condition which is due to structural or quantitative changes in a connective tissue protein, fibrillin. The syndrome is associated with life-threatening changes in the aorta and serious manifestations in many different organ systems. Unclear diagnostic criteria and lack of use of the criteria in clinical practice may have led to overdiagnosing this syndrome in individuals with a long and slender habitus. This in turn can lead to negative consequences for both the individual and his or her family. Failure of diagnosis may cause even more harm, in particular because of the risk of sudden cardiac events. In 1996 an international group of experts proposed a set of revised criteria for Marfan's syndrome which takes into account molecular findings and family history (the Gent criteria). It is important that all practising physicians are aware of these criteria in order to prevent over- and underdiagnosing. A correct diagnosis is of major importance for medical follow-up, genetic counselling, habilitation, and counselling with regard to education and occupation.