Marfan Syndrome in Children
Medically reviewed by Drugs.com. Last updated on May 6, 2024.
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 your child's body from being as strong as they should be. This can cause problems in your child's bones, eyes, heart, and blood vessels. Marfan syndrome is caused by a change in a gene, weakening connective tissues. Your child may inherit the condition from one or both parents, but it is not always genetic.
What are the signs and symptoms of Marfan syndrome?
Signs and symptoms may happen right away or develop as your child gets older:
- Taller than average height, long arms, fingers, legs, and toes, and a long face
- Scoliosis (curved spine), flat feet, or breastbone curved inward or outward
- Eye problems, such as glaucoma, cataracts, or vision problems from a lens that moved out of place
- Stretch marks on the skin
- High and arched palate (roof of the mouth), and crowded teeth
- Back or leg pain, or headaches
- Chest pain or an irregular heartbeat from weakened heart valves
How is Marfan syndrome diagnosed?
Your child's healthcare provider will do a complete physical exam to check for signs of Marfan syndrome. The provider will also ask about your child's health history and family health history. Your child may be given contrast liquid before some of the following tests. Tell the healthcare provider if your child has ever had an allergic reaction to contrast liquid.
- Blood tests help give healthcare providers information about how your child's body is working.
- X-ray, CT, or MRI pictures may show problems caused by Marfan syndrome. Do not let your child enter the MRI room with anything metal. Metal can cause serious injury. Tell the healthcare provider if your child has any metal in or on his or her body.
- An echocardiogram is a type of ultrasound. Sound waves are used to show the structure and function of your child's heart.
- An eye exam may include devices or lenses to check for eye problems.
How is Marfan syndrome treated?
Treatment is given to correct any problems in your child's body or to prevent more damage. Your child's healthcare provider may want to monitor your child's condition over time. Your child may need to avoid activities that make his or her heart pump hard. Your child may need to avoid playing contact sports, such as football and hockey. Light physical activity and certain sports may be allowed, depending on your child's condition. Your child may also need any of the following:
- A back brace may help straighten your child's back. Your child's healthcare provider will tell your child when to wear it and for how long.
- Beta-blockers help your child's heart beat softer and slower. This may prevent damage to your child's heart and aorta. The aorta is the large blood vessel that carries blood from the heart and lungs to the body.
- Surgery may be needed to repair your child's heart valves, blood vessels, or bones. The surgeon may also need to repair structures inside your child's eyes.
Further 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
Call your local emergency number (911 in the US) if:
- Your child has severe pain in his or her chest or abdomen.
- Your child has sudden shortness of breath.
When should I seek immediate care?
- Your child has pain in his or her eyes and sudden trouble seeing.
- Your child cannot control his or her urine or bowel movements.
When should I call my child's doctor?
- Your child has a fever.
- Your child has pain in his or her hips and has problems walking.
- You have questions or concerns about your child's condition or care.
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 healthcare providers to decide what care you want for your child. 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.© Copyright Merative 2024 Information is for End User's use only and may not be sold, redistributed or otherwise used for commercial purposes.
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