CASE REPORT ON MARFAN SYNDROME

Marfan syndrome is a spectrum of disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to FBN1 gene on chromosome 15, which codes for connective tissue protein FIBRIN. A mutation result in an increase in protein called transforming growth factor ß. Abnormalities in this protein cause a myriad of distinct clinical problems, of which the musculoskeletal, cardiac and ocular system problems predominate. A case report on Marfan syndrome with mediastinal widening and sinus tachycardia was reported. This report underscores the significance of thorough family history and physical examination in the diagnosis of Marfan syndrome. Additionally, the effectiveness of therapy can be improved by having a proper insight about the pathology and clinical presentation of Marfan syndrome. Regular ECG, blood pressure monitoring and early initiation of beta blockers therapy as well as elective prophylactic surgical repair contribute to increasing the survival rate of Marfan patients. Keywords: Marfan syndrome, Mediastinal widening, Sinus tachycardia, Beta Blockers, Myopia