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. Learn about your health condition and how it may be treated. Discuss treatment options with your caregivers to decide what care you want to receive. 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:

A consent form is a legal document that explains the tests, treatments, or procedures that you may need. Informed consent means you understand what will be done and can make decisions about what you want. You give your permission when you sign the consent form. You can have someone sign this form for you if you are not able to sign it. You have the right to understand your medical care in words you know. Before you sign the consent form, understand the risks and benefits of what will be done. Make sure all your questions are answered.

IV:

An IV (intravenous) is a small tube placed in your vein that is used to give you medicine or liquids.

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 to give caregivers information about how your body is working. The blood may be taken from your hand, arm, or IV.
  
  
• 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 a type of ultrasound. Sound waves are used to show the structure, movement, and blood vessels of your heart.
  
  
• Heart monitor: This test is also called an EKG or ECG. Sticky pads are placed on your skin to record your heart's electrical activity. An EKG gives information about how your heart is working. Lie as still as possible during the test.
  
  
• 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:

Caregivers will check your blood pressure, heart rate, breathing rate, and temperature. They will also ask about your pain. These vital signs give caregivers information about your current health.

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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.

Learn more about Marfan Syndrome (Inpatient Care)