Marfan Syndrome

WHAT YOU SHOULD KNOW:

• Marfan syndrome is a disorder that weakens the connective tissue and cause problems in the eyes, heart, and bones. The connective tissue provides 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). Marfan syndrome is caused by an abnormal gene that causes your connective tissue to become weak. Genes are little pieces of information that tells your body what to do or what to make. People with Marfan syndrome are usually tall and thin, with long arms and legs, a long face, and a small chin. With Marfan syndrome, you may have trouble seeing and breathing, an abnormal heartbeat, and abnormal bones in your body.
  
  
• You may need blood tests, a computerized tomography (CT) scan, an magnetic resonance imaging (MRI), an electrocardiograph, and x-rays to diagnose Marfan syndrome. Treatment is given to prevent further damage to body areas affected by Marfan syndrome. Treatment may also correct problems caused by Marfan syndrome. You may be given medicines to help your heart beat correctly. You may need surgery to repair damaged areas of your heart and eyes, or straighten your backbone. You may also need to change your lifestyle to avoid activities that may strain your heart. Diagnosing and treating Marfan syndrome as soon as possible may relieve symptoms such as loss of movement and pain. Treating Marfan syndrome may also help you live longer.

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.

RISKS:

• Medicines used to treat Marfan syndrome may cause dizziness, trouble breathing, and vomiting (throwing up). You may bleed too much or get an infection during surgery.
  
  
• If left untreated, your signs and symptoms may worsen and new ones may appear. Eye problems may cause pain, swelling, trouble seeing, and even blindness. You may have trouble moving your arms and legs, and may have a hard time walking. Your heart may not beat correctly, and may even stop completely. A torn aorta may make you bleed inside your body and may cause death. If you are having a child, your heart may have trouble functioning and you may pass your condition to your child. Call your caregiver if you have questions about your condition, medicines, or care.

WHILE YOU ARE HERE:

Informed consent: You have the right to understand your health condition in words that you know. You should be told what tests, treatments, or procedures may be done to treat your condition. Your doctor should also tell you about the risks and benefits of each treatment. You may be asked to sign a consent form that gives caregivers permission to do certain tests, treatments, or procedures. If you are unable to give your consent, someone who has permission can sign this form for you. A consent form is a legal piece of paper that tells exactly what will be done to you. Before giving your consent, make sure all your questions have been answered so that you understand what may happen.

IV: An IV is a tube placed in your vein for giving medicine or liquids. This tube is capped or connected to tubing and liquid.

Medicines:

• Beta blockers: These medicines may help your heart beat softer and slower. Having a slower and softer heartbeat may prevent damage to your heart and aorta.
  
  

Tests:

• 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 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 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.

Vital signs: This includes taking your temperature, blood pressure, pulse (counting your heartbeat), and respirations (counting your breaths). To take your blood pressure, a cuff is put on your arm and tightened. The cuff is attached to a machine which gives your blood pressure reading. Caregivers may listen to your heart and lungs by using a stethoscope. Your vital signs are taken so caregivers can see how you are doing.

Copyright © 2008 Thomson Healthcare Inc. All rights reserved. Information is for End User's use only and may not be sold, redistributed or otherwise used for commercial purposes.

The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.

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