Marfan Syndrome In Children

GENERAL INFORMATION:

What is Marfan syndrome? Marfan syndrome (SIN-drom) is a disorder that weakens your child's connective tissue and cause problems in his bones, eyes, and heart. 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).

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

What are the signs and symptoms of Marfan syndrome? Your child may look unusually tall and thin. He may have long 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 your child gets older. Marfan syndrome may affect different parts of his body and cause any of the following:

• Bones: Your child's fingers, arms, and legs may grow longer than usual. He may have flat feet, a bowl shaped chest, or be pigeon-breasted. He may also have a deformed back, problem moving his arms and legs, pain in his hips, and trouble walking.
  
  
• Eyes: He may have increased risk for other problems like glaucoma (pain and swelling in your child's eyes) and cataracts (cloudy vision). The lens (clear round disc inside his eye) may be moved out of its usual place and cause problems seeing.
  
  
• Heart: Your child's heart may not beat properly and may even stop completely and cause death. He may have chest pain, and weakened heart valves (door-like structures) and aorta (big blood vessel of the heart). Hardened and deformed heart valves may affect the smooth blood flow in your child's heart.
  
  
• Lungs: Pneumothorax (air from a hole in your child's lungs trapped in his chest ) may cause trouble breathing. The abnormal shape of his chest may affect his lungs and also cause trouble breathing.
  
  
• Skin: Stretch marks (lines of thin wrinkled skin) may appear.
  
  
• Spinal cord: The dural sac may widen like a balloon and affect the spinal cord. The dura covers your child's spinal cord. The spinal cord is found in the backbone and sends signals from the brain to and from your child's body. He may have back pain, headache, weak legs, and not be able to hold in his urine or bowel movements.

How is Marfan syndrome diagnosed? Your child's caregiver may need a complete medical history of your child. 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. Your child may also have any of the following:

• 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 barking or 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 his 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.

How is Marfan syndrome treated? Treatment is given to correct any problems in your child's body and to prevent further damage to affected areas. Your child's caregiver may tell him to avoid activities that make his heart pump very hard. He may not let your child play contact sports such as basketball, football, or hockey. He may only let him do light physical activity and certain sports depending on his condition. Your caregiver may ask your child to come back regularly so he can watch your child's condition very carefully. Your child may have any of the following:

• Devices: Your child's caregiver may have him wear a brace to help straighten his back. Your child's caregiver may tell him when he may wear it and for how long.
  
  
• Medicines: Beta blockers are medicines that help your child's heart beat correctly. Having a softer and slower heartbeat may prevent damage to his heart and aorta.
  
  
• Surgery: Your child's caregiver may do surgery to repair your child's heart, bones in his chest and back, and structures inside his eyes.

Where can I get support and more information? Marfan syndrome is a life-changing disease for your child and your family. Accepting that he has Marfan syndrome may be hard for him. Your child and those close to him may feel angry, sad, or frightened. These feelings are normal. Let him talk to his caregiver, family, or friends about his feelings. He may also want to join a support group with other children who have Marfan syndrome. Call or write the following for more information:

• National Marfan Foundation
  22 Manhasset Avenue
  Port Washington, NY 11050
  Phone: 1-516-883-8712
  Phone: 1-800-862-7326
  Web Address: www.marfan.org
  

• 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 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.

Link to this page

Printable Version

Email Page