Marfan and Marfan-like syndromes

With the help of both clinical and genetic diagnostic tools, the spectrum of inherited disorders affecting the arterial system has extended tremendously over the past decades.Discriminating these different entities is important since prognosis and treatment may differ substantially according to the diagnosis.Here we provide an overview of the current clinical and genetic knowledge on classic Marfan syndrome as well as on Marfan related disorders.Through our increased understanding of the pathophysiological mechanisms underlying aneurysm formation in these monogenetic conditions, new therapeutic strategies have emerged and are now being developed.This may serve as a nice example of translational medicine were detailed knowledge of the complex molecular pathways in rare disorders may help us to improve diagnosis and treatment of more common conditions.

Abstract licence: CC BY

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