- Patient Comments: Marfan Syndrome - Experience
- Patient Comments: Marfan Syndrome - Causes
- Patient Comments: Marfan Syndrome - Treatment
- Patient Comments: Marfan Syndrome - Symptoms
- Marfan syndrome facts*
- What is Marfan syndrome?
- What are the symptoms of Marfan syndrome?
- What causes Marfan syndrome?
- How is Marfan syndrome diagnosed?
- What types of doctors treat Marfan syndrome?
- What treatment options are available for Marfan syndrome?
- What are some of the emotional and psychological effects of Marfan syndrome?
- What research is being conducted on Marfan syndrome?
- Where can people find additional information about Marfan syndrome?
What types of doctors treat Marfan syndrome?
Because a number of body systems may be affected, a person with Marfan syndrome should be cared for by several different types of doctors. A general practitioner or pediatrician may oversee routine health care and refer the patient to specialists such as a cardiologist (a doctor who specializes in heart disorders), an orthopaedist (a doctor who specializes in bones), or an ophthalmologist (a doctor who specializes in eye disorders), as needed. Some people with Marfan syndrome also go to a geneticist.
What treatment options are available for Marfan syndrome?
There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctors use depends on which systems have been affected.
- Skeletal. Annual evaluations are important to detect any changes in the spine or sternum. This is particularly important in times of rapid growth, such as adolescence. A serious malformation not only can be disfiguring, but also can prevent the heart and lungs from functioning properly. In some cases, an orthopaedic brace or surgery may be recommended to limit damage and disfigurement.
- Eyes. Early, regular eye examinations are essential for identifying and correcting any vision problems associated with Marfan syndrome. In most cases, eyeglasses or contact lenses can correct the problem, although surgery may be necessary in some cases.
- Heart and blood vessels. Regular checkups and echocardiograms help the doctor evaluate the size of the aorta and the way the heart is working. The earlier a potential problem is identified and treated, the lower the risk of life-threatening complications. Those with heart problems are encouraged to wear a medical alert bracelet and to go to the emergency room if they experience chest, back, or abdominal pain. Some heart-valve problems can be managed with drugs such as beta-blockers, which may help decrease stress on the aorta. In other cases, surgery to replace a valve or repair the aorta may be necessary.
Surgery should be performed before the aorta reaches a size that puts it at high risk for tear or rupture. Because blood clots can form around artificial heart valves, people who have a valve replaced must take the blood-thinning drug warfarin for the rest of their lives. They must also take extreme care to prevent endocarditis (inflammation of the lining of the heart cavity and valves). Dentists should be alerted to this risk; they are likely to recommend that the patient be prescribed protective medicines before they perform dental work.
Because warfarin carries a risk of some serious side effects, including excessive bleeding, and because it is dangerous to unborn babies, doctors are increasingly opting for a newer aortic root replacement procedure that enables people to keep their own valves. The procedure involves removing and replacing the enlarged part of the aorta with a Dacron tube, and resuspending the natural valve into the tube so that the tube supports the valve. The procedure is often performed at an earlier stage than traditional valve replacement. It may also be offered to women with aortic enlargement who are considering becoming pregnant, because it can prevent the rapid aortic growth and possible tearing that sometimes occur during pregnancy.
- Nervous system. If dural ectasia (swelling of the covering of the spinal cord) develops, medication may help minimize any associated pain.
- Lungs. It is especially important that people with Marfan syndrome not smoke, as they are already at increased risk for lung damage. Any problems with breathing during sleep should be assessed by a doctor.
Pregnancy poses a particular concern due to the stress on the body, particularly the heart. A pregnancy should be undertaken only under conditions specified by obstetricians and other specialists familiar with Marfan syndrome. In some cases, valve surgery prior to pregnancy may be warranted. The pregnancy should be monitored as a high-risk condition. Women with Marfan syndrome may also seek genetic counseling concerning the likelihood that they will pass the disease on to their children.
Although eating a balanced diet is important for maintaining a healthy lifestyle, no vitamin or dietary supplement has been shown to help slow, cure, or prevent Marfan syndrome.
For most people with Marfan syndrome, engaging in moderate aerobic exercise is important for promoting skeletal and cardiovascular health and a sense of well-being. However, because of the risk of aortic dissection, people with the syndrome should not engage in contact sports, competitive athletics, or isometric exercise.