WHAT YOU NEED TO KNOW:

What is Marfan syndrome? Marfan syndrome is a disorder that weakens your child's connective tissue. Connective tissue gives strength and support to tendons, ligaments, blood vessels, and other parts of the body. Marfan syndrome keeps many of these parts of his body from being as strong as they should be. This can cause problems in his bones, eyes, heart, and blood vessels.

What causes Marfan syndrome? Marfan syndrome is caused by an abnormal gene that causes your child's connective tissue to become weak. You may pass this condition to your child if you have genes that cause Marfan syndrome. Your child's genes may also develop defects on their own.

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 appear 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, legs, and toes may be longer than normal. He may have scoliosis (abnormally curved spine) or flat feet. His breastbone may also be curved inward or outward.
  
  
• Eyes: He may have eye problems, such as glaucoma (pain and swelling in his eyes) and cataracts (cloudy vision). The lens may be moved out of its usual place and cause vision problems.
  
  
• Skin: Your child may have stretch marks on his skin.
  
  
• Teeth: Your child's palate (roof of his mouth) may be high and arched, and he may have crowded teeth.
  
  
• Spine: Your child's dura may get larger and cause back or leg pain, or headaches. Dura is a membrane that covers your child's spinal cord.
  
  
• Heart: Your child's heart valves may weaken. This can cause him to have chest pain or an irregular heartbeat. Heart valves direct the flow of blood through the heart.

How is Marfan syndrome diagnosed? Your child's healthcare provider will do a complete physical exam to check for signs of Marfan syndrome. He will also ask about your child's health history. He may also need to know the health condition of your family and other close relatives. Your child may also need any of the following:

• Blood tests: Your child may need blood tests to give caregivers information about how his body is working. The blood may be taken from your child's arm, hand, finger, foot, heel, or IV.
  
  
• CT angiography: An x-ray machine uses a computer to take pictures of your child's blood vessels. Your child may be given dye to help his blood vessels show up better in the pictures. Tell the healthcare provider if he has ever had an allergic reaction to contrast dye.
  
  
• An echocardiogram is a type of ultrasound. Sound waves are used to show the structure and function of your child's heart.
  
  
• Heart monitor: This is also called an ECG or EKG. Sticky pads placed on your child's skin record the electrical activity of his heart.
  
  
• Eye exam: This test uses instruments to look inside your child's eyes. Devices and lenses may be used to look for eye problems, such as glaucoma or cataracts.
  
  
• MRI: This scan uses powerful magnets and a computer to take pictures of your child's body. An MRI may show problems in your child's bones, lungs, or heart. Your child may be given dye to help the pictures show up better. Tell the healthcare provider if your child has ever had an allergic reaction to contrast dye. Do not enter the MRI room with anything made of metal. Metal can cause serious injury. Tell the healthcare provider if your child has any metal in or on his body.
  
  
• X-ray: These are pictures of your child's bones, chest, and tissues. They 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 healthcare provider will need to see your child regularly so he can monitor his condition. Your child may need to avoid activities that make his heart pump very hard. He may not be able to play contact sports, such as football or hockey. Your child may only be able to do light physical activity and certain sports, depending on his condition. Your child may need any of the following:

• Back brace: Your child may need to wear a brace to help straighten his back. Your child's healthcare provider will tell him when to wear it and for how long.
  
  
• Beta-blockers: These medicines help your child's heart beat softer and slower. This may prevent damage to his heart and aorta. The aorta is the large blood vessel that carries blood from the heart and lungs to the body.
  
  
• Surgery: Your child's healthcare provider may do surgery to repair your child's heart valves, bones in his chest and back, and structures inside his eyes.

What are the risks of Marfan syndrome?

• Your child may bleed more than expected during surgery, or develop an infection. Without treatment, your child's signs and symptoms may worsen and new ones may appear. Your child may have vision problems, glaucoma, and retinal detachment. Retinal detachment is a serious condition in which the retina (a layer of tissue) pulls away from the blood vessels in the eye. This problem could lead to blindness if left untreated. An abnormal chest shape may cause trouble breathing. He may develop lung problems, such as a collapsed lung. This condition can cause chest pain and shortness of breath.
  
  
• Your child's heart valves may become weak, which affects the blood flow in his heart. His heart may not beat correctly. The walls of his aorta may also become weak and widen, which can lead to a tear, leak, or aneurysm. An aneurysm is a bulging of the aorta that can burst and cause bleeding inside his body. These problems may be life-threatening.

Where can I get more information?

• National Marfan Foundation
  22 Manhasset Avenue
  Port Washington , NY11050
  Phone: 1- 516 - 883-8712
  Phone: 1- 800 - 862-7326
  Web Address: www.marfan.org
  

When should I contact my child's healthcare provider?

• Your child has a fever.
  
  
• Your child has pain in his hips and has problems walking.
  
  
• Your child cannot make it to his next appointment.
  
  
• You have questions or concerns about your child's condition or care.

When should I seek immediate care or call 911?

• Your child has severe pain in his chest or abdomen.
  
  
• Your child has pain in his eyes and has trouble seeing all of a sudden.
  
  
• Your child has sudden shortness of breath.
  
  
• Your child cannot control his urine or bowel movements.

CARE AGREEMENT:

You have the right to help plan your child's care. Learn about your child's health condition and how it may be treated. Discuss treatment options with your child's caregivers to decide what care you want for your child.