Consumer Information

Marfan Syndrome In Children

WHAT YOU SHOULD KNOW:

Marfan syndrome is a disorder that weakens your child's connective tissue and cause problems in his 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. Your child’s blood vessels may get damaged easily and other body parts may have defects (problems). Marfan syndrome is caused by an abnormal gene that causes connective tissue to become weak. Genes are little pieces of information that tell the body what to do or what to make. Your child may look tall and thin, with long arms and legs, a long face, and a small chin. He may have trouble seeing and breathing, an abnormal heartbeat, and abnormal bones in his body.
Blood tests, computerized tomography (CT), magnetic resonance imaging (MRI), electrocardiograph (ECG), and x-rays may help 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. He may be given medicines to help his heart beat correctly. Your child's caregiver may do surgery to repair damaged areas of his eyes, bones, and heart. Your child may also need to avoid activities that may strain his 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 your child live longer.

CARE AGREEMENT:

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

RISKS:

Treatment for Marfan syndrome may cause unwanted side effects. Medicines may make your child dizzy, vomit (throw up), and have trouble breathing. Medicines may make your child sluggish and sleepy, which may affect his performance in school. Your child may bleed too much or get an infection during surgery.
If left untreated, your child's signs and symptoms may worsen and new ones may appear. Eye problems may cause pain, swelling, trouble seeing, and even blindness. His heart may not beat correctly and may even stop completely. A torn aorta (big blood vessel from his heart) may make him bleed inside his body and may cause death. The abnormal shape of his chest may cause trouble breathing. He may have trouble moving his arms and legs, and may have a hard time walking. Call your child's caregiver if you have questions about your child's condition, medicines, or care.

WHILE YOU ARE HERE:

Informed consent: You have the right to understand your child's health condition in words that you know. You should be told what tests, treatments, or procedures may be done to treat your child's condition. Your child's caregiver should also tell you about the risks and benefits of each treatment. You may be asked to sign a consent form that gives your child's 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 your child. Before giving your consent, make sure all your questions have been answered so that you understand what may happen to your child.

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

Medicines:

Beta blockers These medicines help your child's heart beat softer and slower. Having a softer and slower heartbeat may prevent damage to his heart and aorta.

Tests:

Blood tests: Your child may need blood taken for tests. The blood may be taken from your child's arm, hand, finger, foot, heel, or IV. Blood tests can give caregivers more information about your child's health condition. Your child may need to have blood drawn more than once.
CT angiography: A special x-ray machine uses a computer to take pictures of your child's blood vessels. Before taking the pictures, he may be given dye through an IV in his vein. The dye helps the blood vessels show up better in the pictures. People who are allergic to iodine or shellfish (lobster, crab, or shrimp) may be allergic to this dye. Tell your child's caregiver if your child is allergic to any of these.
Echocardiogram: This test is also called an echo. Sound waves are used to show pictures of the size and shape of your child's heart. The echo can also show how well the heart is pumping and how well blood flows through it. Your child will lie down during the test. Caregivers will squirt clear gel onto your child's chest to help the echo probe move easily. The echo pictures are shown on a TV-like screen. The whooshing noise that you may hear is the sound of blood flowing through the heart. Caregivers may ask you to stay in the room with your child during this test.
Eye exam: This test uses special instruments to look inside your child's eyes. Special devices and lenses may be used to look for problems such as glaucoma, cataracts, or retinal detachment
Heart monitor: This is also called an ECG, electrocardiogram, or telemetry. Three or five sticky pads are placed on your child's chest. Each pad has a wire leading to a TV-type screen or to a small portable box (telemetry unit). This screen or box shows a picture of your child's heartbeat. Caregivers watch this picture to make sure your child's heart is doing OK.
Magnetic resonance imaging: This test, also called an MRI, allows caregivers to see inside your child's body. This may allow your child's caregiver to check for any problems in the bones, lungs, heart, eyes, and brain. Your child will need to lay still during a MRI. Never let him 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 child's chest, abdomen (belly), and arms and legs. 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.

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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