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Marfan Syndrome Treatment Information
Living with Marfan syndrome means paying special attention to your heart, eye and skeletal health. IU Health Medical Genetics physicians and genetic counselors act as your primary care providers, collaborating with other doctors on a care program that maximizes your quality of life.
Below are possible heart conditions you are at risk for due to Marfan syndrome and their available treatment options.
- Aortic dissection. The increased elasticity from Marfan syndrome causes your ascending aorta to enlarge. The ascending aorta carries oxygen-rich blood from your heart to the rest of your body. If the aorta balloons out too much, it can rupture or split from the inside, causing internal bleeding and possible death. We normally monitor your aorta on an annual basis by taking measurements with regular imaging techniques. If your aorta grows to 4-1/2 centimeters (1-3/4 inches) or more in diameter, we recommend a surgical replacement of the enlarged aortic segment using a synthetic replacement. The goal is to replace your aorta before an emergency situation arises.
- Abdominal aortic aneurysm. Abdominal aortic aneurysms can also occur in Marfan syndrome. The most likely spot for an aneurysm to form is in the section of the abdominal aorta that is below the kidneys. Regular monitoring by imaging the aorta and controlling risk factors through diet, exercise and medicines may prevent serious issues. Surgical repair is a treatment option. If the aorta balloons too much, a synthetic replacement can be used to repair the damaged section of your aorta.
- Beta blockers. Your cardiologist may prescribe β-adrenergic receptor antagonist therapy, or beta blocker medicine, to reduce the stress on your ascending or abdominal aorta. Beta blockers are a standard of care for most Marfan syndrome patients. These medicines help strengthen your aorta and slow the expansion of the cardiovascular tissue.
- Mitral valve prolapse. This condition appears when the two flaps of the mitral valve between the left atrium and left ventricle do not close properly. One or both of the flaps stretch inward toward the atrium, letting blood flow backward from the ventricle into the atrium. In more serious cases, treatments may include reducing stimulants like caffeine, taking anticoagulant medicines and surgical repair. Reported problems with mitral valve function are rarely associated with death. In the most severe prolapse cases, surgery to repair or to replace the mitral valve is highly successful
Marfan syndrome can affect the eyes. Below are possible conditions that may arise and treatment options.
- Dislocated lens. The lenses of one or both of your eyes may move from behind the center of your pupils. About six out often people with Marfan syndrome have dislocated lens. This happens because the connective tissue that holds your lenses in place is weak. When lenses slip out of place, your eye cannot focus and your vision is blurry. Eyeglasses and contacts lenses correct your vision. Eye drops that dilate your pupils can make the corrective eyewear perform better. Surgical replacement of your lenses is also an option, but is not recommended until at least the later teen years.
- Retinal detachment. The lack of connective tissue can also impact your retina, the light-sensitive nerve layer at the back of your eye. When the retina separate from the back of the eye, you can lose vision. When this happens, you may see bright flashes of light, more floaters in your eyes and a gray curtain moving across your field of vision. See your eye doctor immediately if you have these symptoms. The longer the delay, the more extensive the detachment and vision loss may be. Only surgery can fix a retinal detachment.
- Other eye and vision problems. The weakened structures of your eye may result in several common eye conditions.
- Myopia. This is nearsightedness, when distant objects are out of focus. This can be corrected with eyeglasses, contacts lenses and sometimes laser surgery.
- Astigmatism. Blurred vision occurs from an irregular curve of the lens or cornea. Corrective lenses fix the problem.
- Amblyopia. “Lazy eye” is when the vision of one eye is reduced because the eye and the brain are not communicating properly. Medicines and the use of an eye patch can strengthen the weaker eye.
- Strabismus. “Crossed eyes” occur when both eyes do not focus on the same object at the same time. About 95 percent of people with strabismus also have amblyopia (lazy eye). Treatment for amblyopia and proper glasses improves vision.
- Glaucoma. This is a disease caused by increased pressure inside the eye. About 35 percent of people with Marfan syndrome develop glaucoma, usually earlier than the general population. Untreated glaucoma can cause blindness. Medicine and, in some cases, surgery, are used to manage this condition.
- Cataracts. This condition is a clouding of the eye lens. You may develop this before age 40, much earlier than in the general population. Implant surgery to replace the clouded lenses can deliver good results.
Marfan syndrome causes problems in the bones and joints. Listed here are treatments and descriptions for the skeletal conditions that occur when bones grow extra-long or the connective tissue that holds joints together is too stretchy.
- Scoliosis. Your spine may develop a sideways curve due to a weakened skeletal system. The bones or vertebrae in your spine twist because the ligaments are not strong enough to hold them in place. This often happens during a rapid growth spurt in your teens. Curvature of the spine can cause back pain, decreased lung function and posture problems. The severity of the curve determines the best treatment for you. A brace prevents a curve from getting worse if the curvature is between 20 and 40 degrees. It is worn 23 hours a day until growth is complete. If your spine bends at 40 degrees or more, surgery is a likely option to straighten the spine. Metal rods are fused to the vertebrae to keep the spine straight.
- Kyphosis. This is a curving forward of the spine to create a hunched back profile. Braces and surgery similar to those used for scoliosis relieve back pain and straighten the spine.
- Breastbone deformities. You may have a sunken or protruding chest.
- Pectus excavatum, or sunken chest, is caused by too much growth of the connective tissue that joins the ribs to the breastbone. In severe cases, your breathing may be impaired. There are no braces to correct this condition. Surgery performed in mid- to late childhood raises the breastbone and ribs, and straightens them using a metal bar.
- Pectus carinatum is a protruding chest.
- Foot problems. Long bones and loose ligaments, and the stress of a large frame on your feet causes bunions, hammer and claw toes, turned ankles and calluses. Foot pain may be a problem for you. Treatments include arch supports, special footwear cushions and maintaining the right weight for your height. Surgery is rarely needed.
- Other bone problems.
- Spondylolisthesis. When one vertebra slips forward on the one below it, low backache and stiffness results. You may not be able to bend forward. Exercise and braces assist mild cases. If your slippage is greater than 30 percent, surgery may be needed.
- Back and limb pain. The stress of living in a large body with loose joints causes aches and pains. Medicines can relieve the pain.
- Dural ectasia. An enlargement of the sac around the spinal cord happens because the sac is made of weakened connective tissue. Medicines and spinal shunting to relieve pressure can reduce pain in severe cases.
- Protrusio acetabulae. In less than 5 percent of people with Marfan syndrome, the hip sockets become very deep during growth. Early arthritis can result in adulthood. You many need an artificial hip replacement.
Marfan Syndrome Locations & Physicians
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Marfan Syndrome Support Services
Learn more about Marfan syndrome treatments at these websites:
A Sampling of Marfan Syndrome Support Services
National Marfan Foundation
This national foundation fosters research, education and patient support for those living with Marfan syndrome.
National Heart, Lung, and Blood Institute
This division of the National Institutes of Health promotes the prevention and treatment of heart, lung and blood diseases, including Marfan syndrome. The site offers information about diagnosis, treatments, living with the condition and available clinical trials.
Genetics Home Reference
This website from the U.S. National Library of Medicine offers consumer information about genetic conditions like Marfan syndrome, and the genes and chromosomes related to those conditions.