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Treatments and drugs
By Mayo Clinic staffIn the past few decades, treatment advances to prevent aortic ruptures have allowed many people with Marfan syndrome to live a near-average life span. Researchers are working to develop more-targeted treatment approaches for Marfan syndrome, and the outlook for this condition continues to improve.
While no treatment exists yet for Marfan syndrome itself, therapy focuses on preventing the various complications of the disease. For that reason, the treatment you receive will depend on the nature and severity of your symptoms.
Cardiovascular problems
The cardiovascular complications association with Marfan syndrome can be life-threatening, so doctors typically recommend an annual heart exam.
Two main approaches exist for treating cardiovascular complications:
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Medications. Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection, even though your blood pressure may be normal. The most commonly used drugs are beta blockers, which cause your heart to beat more slowly and with less force and reduce your risk of aortic dissection and rupture.
If you can't tolerate the side effects of beta blockers, your doctor may prescribe an angiotensin-converting enzyme (ACE) inhibitor or calcium channel blocker instead. Medications called angiotensin receptor blockers also are often used in people with Marfan syndrome due to beneficial results in animal and human studies. Children often receive the same medications as adults.
- Surgery. If your aorta's diameter enlarges quickly or reaches a dangerous size — usually around 2 inches (5 cm) — your doctor may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Your aortic valve may need to be replaced as well. Some people with Marfan syndrome may require multiple operations.
Skeletal problems
Many of the skeletal problems that affect people with Marfan syndrome also occur in the general population and are treated the same way. They include:
- Scoliosis. For some children and adolescents, doctors recommend a custom-made back brace, which is worn nearly continuously until growth is complete. Although a brace can't permanently straighten the spine, it may help stop spinal curvature from becoming worse. If the curve in your child's spine is too great, a brace may not be effective, and your doctor may suggest surgery to straighten the spine.
- Concave chest. When a concave chest affects your child's breathing, surgery may be an option. The operation consists of raising the sternum and ribs and holding them in place. A convex chest usually doesn't cause functional problems, but it may be a cosmetic concern and can also be corrected surgically.
Eye problems
Because of the eye problems that can occur with Marfan syndrome, doctors usually recommend an annual eye exam for people with the disease. These problems include:
- Dislocated lens. In younger children, a dislocated lens can be treated effectively with glasses or contact lenses that refract around or through the lens. Adolescents who find glasses cosmetically unacceptable or their visual field too restricted may be candidates for a type of intraocular lens implant.
- Glaucoma. While glaucoma can't be cured, the disease can be controlled with early detection and treatment. Eyedrops, oral medications and surgical procedures can prevent or slow further damage.
- Cataracts. Surgery to replace your clouded lens with an artificial lens is usually very successful at improving vision damaged by cataracts. You may want to consider cataract surgery once vision loss begins to interfere with everyday activities.
- Retinal detachment. In most cases, eye surgeons can repair sections of the retina that have torn or detached.
- Questions and Answers about Marfan Syndrome. National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/health_info/marfan_syndrome/default.asp. Accessed June 1, 2010.
- Wright MJ. The Marfan syndrome. http://www.uptodate.com/home/index.html. Accessed June 1, 2010.
- Hiratzka LF, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary. Journal of the American College of Cardiology. 2010;55:e27. Accessed June 1, 2010.
- Keane MG, et al. Medical Management of Marfan Syndrome. Circulation. 2008;117:2802.
- Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009;95:173.
- Children and teens. National Marfan Foundation. http://www.marfan.org/marfan/2493/Children-and-Teens. Accessed June 1, 2010.
- Glaucoma: What you should know. National Eye Institute. http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp. Accessed June 1, 2010.
- Facts about retinal detachment. National Eye Institute. http://www.nei.nih.gov/health/retinaldetach/retinaldetach.asp. Accessed June 1, 2010.
- Grogan M (expert opinion). Mayo Clinic, Rochester, Minn. June 4, 2010.
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