Marfan syndrome

Abstract

Marfan syndrome is a genetic disorder of connective tissue that affects multiple body systems, including the cardiovascular, skeletal, and ocular systems, and presents a great variability in its clinical manifestations. The aim of the study was to interpret Marfan syndrome through a literature review. To this end, an exhaustive search of literature was conducted in databases such as PubMed, ScienceDirect, and Scopus, selecting studies published between 2010 and 2022 that addressed the etiology, diagnosis, clinical manifestations, and treatments of the syndrome. The results show that the mutation of the FBN1 gene, located on chromosome 15q21-1, affects the production of fibrillin-1, a crucial glycoprotein for the elasticity of connective tissues, leading to cardiovascular complications, especially aortic dilation and dissection, as well as skeletal and ocular problems such as ectopia lentis and myopia. The diagnosis of the syndrome remains complex and requires a combination of genetic tests and imaging studies, relying on the Ghent criteria. Treatment options include specific medications and surgeries that, depending on the severity and age of the patient, can improve the prognosis. In conclusion, Marfan syndrome requires a multidisciplinary diagnostic and therapeutic approach to address its multisystemic effects, and early diagnosis is key to reducing the risk of severe complications and improving the quality of life of patients.