Abstract
Marfan syndrome (MFS) is a multisystem connective tissue disease of autosomal dominant inheritance with an estimated incidence of 1 in 5,000 individuals. It is caused by a mutation in the gene that encodes fibrillin-1 (FBN1) with complete penetrance, variable expressivity and pleiotropy; without predilection for sex, race, ethnicity or geographic location. It manifests with phenotypic characteristics in the skeletal, ocular, pulmonary, skin, nervous and cardiovascular systems. The diagnostic criteria were updated in 2010 (revised Ghent nosology), including criteria for aortic diameter, ectopia lentis, systemic scoring, genetic testing, and family history. Patients with MFS can develop life-threatening cardiovascular complications including aortic root dilation, aortic dissection, mitral valve prolapse, and aortic insufficiency. For these reasons, without adequate and timely treatment, MFS reduces life expectancy and death usually occurs between the third and fifth decades of life. However, with proper medical and surgical care, patients can have a life expectancy close to normal. This article aims to present an updated review of FMS including clinical manifestations, diagnosis and therapeutic approaches currently used.
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Copyright (c) 2023 María José Lizano Villareal, Daniel Arroyo Solís