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There is no cure for Marfan syndrome. Treatment focuses on repairing or lessening its effect on body systems. Careful management by physicians familiar with the syndrome can greatly improve the patient’s prognosis and quality of life. The management plan may include:
- Annual echocardiograms to monitor the size and function of the heart, valves and aorta. If the echocardiogram reveals significant enlargement of the aorta, corrective surgery may be recommended.
- Regular eye examinations to detect vision problems, lens dislocation, retina dislocation, glaucoma or cataracts. Corrective lenses may be prescribed to help patients with vision problems such as near-sightedness.
- Periodic chest x-ray to assess heart and aortic size.
- Periodic CAT scan of the chest, with contrast, to assess the aorta.
- Medications such as beta-blockers to lower blood pressure and/or heart rate and reduce the strain on the heart and the aorta.
- Administration of antibiotics prior to any dental, medical or surgical procedure to reduce the risk of infection in Marfan patients who have developed mitral valve prolapse, mitral valve regurgitation (leak) and/or aortic valve regurgitation.
In addition, patients may need to adapt their lifestyles to reduce the stress on the aorta. This may include:
- Avoiding heavy lifting, contact sports and strenuous exercise.
- Wearing protective goggles or glasses when working or playing sports (contact sports are not advised).
- Wearing a medical alert bracelet to provide information about their condition in case of an emergency.
Because of the complexity of Marfan syndrome, patients may need to see a variety of specialists to treat the different components of the syndrome. These specialists may include a cardiologist, opthamologist, orthapedist and genetic counselor. Careful monitoring is critical for Marfan syndrome patients so that any conditions that develop, such as an aortic aneurysm, can be treated immediately.
Research has found that Marfan syndrome patients who need emergency surgery to repair an aortic aneurysm have a mortality risk eight times greater than patients who had the surgical repair done early and electively. Thoracic aortic aneurysms often have no symptoms until they become life-threatening but can be caught early through periodic echocardiograms or, preferably, through a transesophageal echocardiogram (TEE), and CAT scans with contrast of the heart. |