All you need to know about: Marfan Syndrome

The Hindu

01-05-2025

What is Marfan Syndrome?
Marfan Syndrome is a rare genetic condition that affects the body's connective tissue, the material that supports and holds together skin, bones, blood vessels, and organs. When this tissue is weak or stretched, it can cause a wide range of health issues, especially in the heart, eyes, bones, and joints. The condition is named after French doctor Antoine Marfan, who first described it in 1896.
What are the signs and symptoms of Marfan syndrome?
People with Marfan Syndrome often have a tall and thin build, with long arms, legs, fingers, and toes. Their joints may be unusually flexible, and they often have loose ligaments, meaning their fingers may bend back farther than normal, sometimes even touching the back of their hand. Some may have a curved spine or a chest that sticks out or sinks in. The condition also affects the eyes, often causing the lens inside the eye to slip out of place, known as lens dislocation, which can lead to serious vision problems if not treated in time.
The most serious complications involve the heart and major blood vessels. The walls of the aorta (the main artery carrying blood from the heart) can become weak and stretch too much, leading to aneurysms or aortic dissection, both of which can be life-threatening. Some people also have mitral valve prolapse, where a valve in the heart does not close properly.
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Who is at risk?
Marfan Syndrome affects about 1 in 10,000 people. It is usually inherited from a parent, but in some cases, it can occur as a new genetic change without a family history. The risk is higher in consanguineous marriages (where partners are closely related), because the chances of passing on certain genetic traits are greater.
Some doctors have suggested that Abraham Lincoln, the 16th President of the United States, may have had features of Marfan Syndrome, such as his tall stature and long limbs. Both men and women are equally affected.
How is it diagnosed and treated?
Marfan Syndrome is diagnosed based on physical signs, eye exams, heart scans like echocardiograms, and genetic testing. Since the symptoms vary and may develop slowly, diagnosis can be delayed unless doctors specifically look for it.
There is no cure for Marfan Syndrome, but it can be managed effectively with the right medical care. Beta-blockers or blood pressure medications like propranolol are often prescribed to reduce stress on the heart and aorta. Regular cardiac checks help monitor the size of the aorta, and surgery may be needed if it becomes dangerously enlarged.
Routine care also includes orthopaedic monitoring for bone or spine issues and regular eye check-ups to catch and treat lens dislocation early. Ignoring vision problems can lead to permanent eyesight loss, especially in children.
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What is life like with Marfan Syndrome?
With proper precautions, most people with Marfan Syndrome can lead healthy and productive lives. However, they should avoid strenuous activities, contact sports, or heavy physical work, such as military training or physically demanding jobs which could stress the heart or joints. Regular check-ups with a cardiologist, ophthalmologist, and orthopaedic specialist are essential to monitor and manage the condition over time.