Marfan's Syndrome

Marfan's Syndrome is an inherited (autosomal dominant) disorder, caused by a defective gene involved with the production of fibrillin. Fibrillin makes up part of connective tissue in the body, such as the blood vessels, eye lenses, and ligaments.

Signs and Symptoms

• Patient has long, thin arms, legs, fingers, and toes.
• Chest wall protrudes
• Reduced vision and severe near-sightedness
• Mitral valve prolapse
• Aortic aneurysms (a bulge in the wall or the aorta, resembling a weak spot that bulges in an imperfect automobile tire) -- can have no symptoms; or might have fatigue, lightheadedness, and/or chest pain. Death may occur if the aneurysm ruptures.
• Aortic Dissection (a torn area between the layers of the aortic wall, allowing blood to seep between the layers of the wall) -- can cause chest pain, tearing/ripping back pain, or death
• Aortic Regurgitation -- chest pain, shortness of breath
• Spontaneous Pneumothorax -- Collapsed Lungs may occur (severe, sudden shortness of breath)

• Mutations may be seen in chromosome 15, but no single test establishes the diagnosis.
• Echocardiogram is performed to evaluate the patient's chest for an aortic aneurysm.
• See section on Aortic Dissection for work up and management.
• Ophthalmologic evaluation reveals lens dislocation and severe near-sightedness

Category: Medicine Notes