Marfan Syndrome: A Case Study

Background: Marfan syndrome is an autosomal dominant, multisystem connective tissue disease, associated with a mutation in fibrillin, and occasionally a mutation in TGFBR 1 or 2. The cardinal manifestations of this condition involve the cardiovascular, ocular and skeletal systems. Objective: To describe the features and complications of Marfan syndrome and discuss the current management. Methods: Detailed history, physical examination and laboratory investigations. Conclusion: This report underscores the importance of detailed family history and physical examination in the diagnosis of Marfan syndrome. Additionally, good insight about the pathogenesis and the clinical presentation of Marfan syndrome improves the effectiveness of medical therapies. Regular valvular monitoring and early initiation of beta blockers therapy as well as elective prophylactic surgical repair contribute to increasing the survival rate of Marfan patients.