Marfan Syndrome

GENERAL INFORMATION:

What is Marfan syndrome? Marfan syndrome is a disorder that weakens the connective tissue and cause problems in the eyes, heart, and bones. The connective tissue gives strength and support to tendons, ligaments, blood vessels, and many other structures in the body. With Marfan syndrome, many of these structures are not as strong as they should be. Blood vessels may get damaged easily and other body parts may have defects (problems).

What causes Marfan syndrome? Marfan syndrome is caused by an abnormal gene that causes your connective tissue to become weak. Genes are little pieces of information that tell your body what to do or what to make. Your parents may pass this condition to you by having genes with defects that cause Marfan syndrome. Your genes may also develop defects on their own. When your close family members have Marfan syndrome, there is a higher risk that you may have it also.

What are the signs and symptoms of Marfan syndrome? People with Marfan syndrome are usually tall and thin. They often have long thin arms and legs, a long face, and a small chin. Signs and symptoms may not all appear at once and may only show up as you get older. Marfan syndrome may affect different parts of your body and cause any of the following:

• Bones: Your fingers, arms, and legs may grow longer than usual. You may have scoliosis (spine is abnormally curved), flat feet, bowl-shaped chest, or be pigeon-breasted. You may also have problems moving your arms and legs, pain in your hips, and trouble walking.
  
  
• Eyes: You may have eye problems such as glaucoma (pain and swelling in your eyes) and cataracts (cloudy vision). The lens (clear round disc inside your eye) may be moved out of its usual place and cause problems seeing.
  
  
• Heart: You may have chest pain. Your heart valves (door-like structures) and the walls of your aorta may be weak. The aorta is the large blood vessel that carries blood from the heart and lungs to the body. Hardened and deformed heart valves may affect the smooth flow of blood in your heart. Your heart may not beat correctly, and may even stop completely and cause death.
  
  
• Lungs: Pneumothorax (air from a hole in your lungs trapped in your chest ) may cause trouble breathing.
  
  
• Skin: Stretch marks (lines of thin wrinkled skin) are usually present.
  
  
• Spinal cord: The dural sac may widen like a balloon and cause problems. The dura covers your spinal cord. Your spinal cord sends signals from the brain to and from the rest of your body. You may have back pain, headache, weak legs, and incontinence (unable to control your urine or bowel movements).

How is Marfan syndrome diagnosed? Your caregiver may need a complete medical history from you. He may also need to know the health condition of your family and other close relatives. A complete physical examination may be done to check for any problems. You may also have any of the following:

• Blood tests: You may need blood taken for tests. The blood can be taken from a blood vessel in your hand, arm, or the bend in your elbow. It is tested to see how your body is doing. It can give your caregivers more information about your health condition. You may need to have blood drawn more than once.
  
  
• CT angiography: A special x-ray machine uses a computer to take pictures of your blood vessels. Before taking the pictures, you may be given dye through an IV in your vein. The dye helps the blood vessels show up better in the pictures. People who are allergic to shellfish (lobster, crab, or shrimp) may be allergic to this dye. Tell your caregiver if you are allergic to any of these.
  
  
• Echocardiogram:
  
  
  • This test is also called an echo. It is a type of ultrasound, using sound waves to show pictures of the size and shape of your heart. An echo also looks at how your heart moves when it is beating. These pictures are seen on a TV-like screen.
    
    
  • This test is done while lying down on your back. Clear jelly will be squirted on your chest to help the ultrasound sensor slide easily. The sensor will be rubbed across your chest to see your heart from different angles. You may hear a barking or whooshing noise, which is the sound of your blood flow. Caregivers may ask you to pedal a bike during the test (exercise echo) or you may get medicine before the test to increase blood flow to your heart muscle (stress echo). This test can tell how well your heart is pumping. An echo can also find problems, such as fluid around the heart or problems with your heart valves.
  
  
• 12-lead ECG: This test, also called an EKG, helps caregivers look for damage or problems in different areas of the heart. Caregivers may need to prepare your skin by shaving off some hair, or cleaning it with a gritty lotion. Sticky pads are placed on your chest, arms, and legs. Each sticky pad has a wire that is hooked to a machine or TV-type screen. A short period of electrical activity in your heart muscle is recorded. Caregivers will look closely for certain problems or changes in how your heart is working. This test takes about 5 to 10 minutes. It is important that you lie as still as possible during the test. You may need this test more than once.
  
  
• Eye exam: This test uses special instruments to look at the inside of your eyes. Special devices and lenses may be used to look for problems such as glaucoma, cataracts, or retinal detachment.
  
  
• Magnetic resonance imaging: This test, also called an MRI, allows caregivers to see inside your body. This may allow your caregiver to check for any problems in the bones, lungs, heart, eyes, and brain. You will need to lay still during a MRI. Never enter the MRI room with an oxygen tank, watch, or any other metal objects. This can cause serious injury.
  
  
• X-ray: These are pictures taken of parts inside your body, such as bones, abdomen, chest, and tissues. These pictures may show problems caused by Marfan syndrome.

How is Marfan syndrome treated? Treatment is given to prevent further damage to areas of your body affected by Marfan syndrome. Treatment may also correct defects caused by Marfan syndrome. Your caregiver may ask you to make regular appointments so he can watch your condition very carefully. You may need to avoid activities that make your heart pump very hard. You may need to avoid playing contact sports such as basketball, football, and hockey. Light physical activity and certain sports may be allowed depending on your condition. You may also have any of the following:

• Devices: Your caregiver may give you a brace to wear, which is a device to help straighten your back. Your caregiver may tell you when to wear it and for how long.
  
  
• Genetic counseling: If you plan to have a baby, there is a chance that you may pass Marfan syndrome on to him. If you are female, pregnancy may put a lot of strain on the heart and may worsen your condition. Ask your caregiver for more information on genetic counseling.
  
  
• Medicines: Medicines that help your heart beat correctly may be given.
  
  
• Surgery: Your caregiver may do surgery to repair heart valves, blood vessels, and abnormal bones in your chest and back. He may also need to repair structures inside your eyes.

Where can I get support and more information? Marfan syndrome is a life-changing disease for you and your family. Accepting that you have Marfan syndrome is hard. You and those close to you may feel angry, sad, or frightened. These feelings are normal. Talk to your caregivers, family, or friends about your feelings. You may also want to join a support group with other people who have Marfan syndrome. Contact the following for more information:

• American Heart Association National Center
  7272 Greenville Avenue
  Dallas, TX 75231-4596
  Phone: 1-800-242-8721
  Web Address: http://www.americanheart.org
  

• National Eye Institute
  2020 Vision Pl.
  Bethesda, MD 20892-3655
  Phone: 1-301-496-5248
  Web Address: http://www.nei.nih.gov
  

CARE AGREEMENT:

You have the right to help plan your care. To help with this plan, you must learn about your health condition and how it may be treated. You can then discuss treatment options with your caregivers. Work with them to decide what care may be used to treat you. You always have the right to refuse treatment.

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