Diagnosis and management of Marfan syndrome

Abstract

Marfan syndrome (MFS) is a relatively common inherited connective tissue disorder with significant morbidity and mortality. Diagnosis of this syndrome can be difficult, as many of the findings of MFS are present in other syndromes, as well as in the general population. MFS is diagnosed using the Ghent criteria, a group of clinical findings that are specific for MFS. Children and adolescents can pose diagnostic dilemmas as the stigmata of MFS are not present at birth but can evolve through adulthood. Current treatment for MFS is limited to strict blood pressure control and careful selection of physical activity. Aggressive screening and early management could significantly improve the quality of life for these patients.