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Marfan Syndrome with Aortic Disease is a hereditary connective tissue disorder that affects the body's structural proteins, particularly fibrillin-1. One of its most serious complications involves the aorta, the body's largest artery. Weakness in the aortic wall can lead to progressive enlargement of the aortic root or ascending aorta, increasing the risk of aneurysm formation and potentially fatal aortic dissection if left untreated.

People with Marfan syndrome may also have distinctive physical features such as tall stature, long limbs, flexible joints, scoliosis, and eye conditions like lens dislocation. However, cardiovascular complications remain the leading cause of serious illness and mortality. Regular monitoring through echocardiography, CT scans, or MRI is essential to detect changes in aortic size and guide timely treatment.

Management focuses on reducing stress on the aortic wall using medications such as beta-blockers or angiotensin receptor blockers, along with lifestyle modifications that avoid strenuous physical activities. Surgical repair is recommended when the aorta reaches a high-risk diameter or shows rapid enlargement. Early diagnosis, genetic counseling, routine follow-up, and appropriate medical or surgical intervention significantly improve long-term outcomes, allowing many individuals with Marfan syndrome to lead healthier and more active lives.