Marfan’s Syndrome

Marfan’s syndrome is a genetic connective tissue disorder caused by mutations in the fibrillin-1 gene, leading to abnormal elastic fibre formation. It is clinically important due to its multisystem involvement, particularly affecting the cardiovascular, ocular, and skeletal systems. A key complication is aortic root dilation, which can result in life-threatening aortic aneurysm or dissection if not monitored and managed appropriately.