Marfan Syndrome
Medically reviewed by Drugs.com. Last updated on May 6, 2024.
AMBULATORY CARE:
Marfan syndrome
is a disorder that weakens the connective tissue in your body. Connective tissue gives strength and support to tendons, ligaments, blood vessels, and other parts of your body. Marfan syndrome keeps many of these parts of your body from being as strong as they should be. This can cause problems in your eyes, heart, blood vessels, and bones. Marfan syndrome is caused by a change in a gene that causes your connective tissues to become weak. One of your parents may pass this condition to you, but it is not always genetic.
Signs and symptoms of Marfan syndrome
may happen right away or develop as you get 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 your skin
- High and arched palate (roof of your mouth), and crowded teeth
- Back or leg pain, or headaches
- Chest pain or an irregular heartbeat from weakened heart valves
Call your local emergency number (911 in the US) if:
- You have severe pain in your chest or abdomen.
- You have sudden shortness of breath.
Seek care immediately if:
- You have sudden pain in your eyes and trouble seeing.
- You cannot control your urine or bowel movements.
Call your doctor if:
- You have a fever.
- You are planning to have a child, or you are pregnant.
- You have pain in your hips and have problems walking.
- You have questions or concerns about your condition or care.
Treatment
is given to prevent damage to affected areas of your body. Your healthcare provider may want to monitor your condition over time. You may need to avoid activities that make your heart pump very hard. You may need to avoid playing contact sports, such as football and hockey. Light physical activity and certain sports may be allowed, depending on your condition. You may also need any of the following:
- A back brace may help keep your back straight. Your provider will tell you when to wear it and for how long each day.
- Beta-blockers help your heart beat softer and slower. This may prevent damage to your 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 heart valves, blood vessels, or bones. Your provider may also need to repair structures inside your eyes.
What you should know before you try to have children:
- Ask about genetic counseling. Genetic counseling can help you understand your chances of passing the condition to your baby. Ask your healthcare provider for more information on genetic counseling.
- Your provider will check your aorta for any widening. Widening may mean you have weakness in the wall of your aorta. Pregnancy may put a lot of strain on your heart and may worsen your condition. You will need to be monitored closely during your pregnancy.
Follow up with your doctor as directed:
Write down your questions so you remember to ask them during your visits.
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
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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.
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