Marfan Syndrome and FBN1 Gene Mutations _ Genome Disfunction Review

Marfan Syndrome (MFS) is a systemic connective tissue disorder caused by mutations in the FBN1 gene, which encodes fibrillin-1, a glycoprotein critical to the structural integrity of connective tissues. This autosomal dominant condition primarily affects the cardiovascular, skeletal, and ocular systems. Patients with MFS are at heightened risk for aortic aneurysms and dissections, necessitating vigilant monitoring and early intervention. This article explores the genetic and clinical landscape of Marfan Syndrome and highlights advances in targeted therapies and surgical interventions that aim to improve life expectancy and quality of life.