Medically reviewed by Drugs.com. Last updated on Jan 5, 2023.
What is Marfan syndrome?
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.
What causes Marfan syndrome?
Marfan syndrome is caused by an abnormal gene that causes your connective tissue to become weak. One of your parents may pass this condition to you. Your genes may also develop defects on their own.
What are the signs and symptoms of Marfan syndrome?
People with Marfan syndrome are usually tall and thin. They often have long arms and legs, a long face, and a small chin. Signs and symptoms may not all appear at once and may only develop as you get older. Marfan syndrome may cause any of the following:
- Bones: Your fingers, arms, legs, and toes may be longer than normal. You may have scoliosis (abnormally curved spine) or flat feet. Your breastbone may also be curved inward or outward.
- Eyes: You may have eye problems, such as glaucoma (pain and swelling in your eyes) and cataracts (cloudy vision). The lens may be moved out of its usual place and cause vision problems.
- Skin: You may have stretch marks on your skin.
- Teeth: Your palate (roof of your mouth) may be high and arched, and you may have crowded teeth.
- Spine: Your dura may get larger and cause back or leg pain, or headaches. Dura is a membrane that covers your spinal cord.
- Heart: Your heart valves may weaken. This can cause you to have chest pain or an irregular heartbeat. Heart valves direct the flow of blood through the heart.
How is Marfan syndrome diagnosed?
Your healthcare provider will do a complete physical exam to check for signs of Marfan syndrome. Your provider will also ask about your health history. Your provider may also need to know the health condition of your family and other close relatives. You may also need any of the following:
- Blood tests give healthcare providers information about how your body is working.
- CT angiography: An x-ray machine uses a computer to take pictures of your blood vessels. You may be given dye to help the blood vessels show up better in the pictures. Tell the healthcare provider if you have 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 heart.
- Telemetry is continuous monitoring of your heart rhythm. Sticky pads placed on your skin connect to an EKG machine that records your heart rhythm.
- Eye exam: This test uses instruments to look at the inside of your 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 body. An MRI may show problems in your bones, lungs, or heart. You may be given dye to help the pictures show up better. Tell the healthcare provider if you have 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 you have any metal in or on your body.
- X-ray: These are pictures of your bones, chest, and tissues. They may show problems caused by Marfan syndrome.
How is Marfan syndrome treated?
Treatment is given to prevent further damage to areas of your body affected by Marfan syndrome. Treatment may also correct defects caused by Marfan syndrome. Your healthcare provider may ask you to make regular appointments so he or she can monitor your condition. 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:
- Back brace: You may need to wear a brace to help keep your back straight. Your healthcare provider will tell you when to wear it and for how long.
- Beta-blockers: These medicines 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: Your healthcare provider may do surgery to repair your heart valves, blood vessels, and abnormal bones in your chest and back. Your provider may also need to repair structures inside your eyes.
What should I know before I try to have children?
- Genetic counseling: There is a chance that you may pass Marfan syndrome to your child. You can go to healthcare providers for genetic counseling if you plan to have a baby. This counseling can help you understand your chances of passing the condition to your baby. Ask your healthcare provider for more information on genetic counseling.
- Pregnancy: If you are a female, talk to your healthcare provider before you get pregnant. Your provider will check your aorta to see if there is any widening. This shows that there is weakness in the wall of the aorta. Pregnancy may put a lot of strain on your heart and may worsen your condition. You will need to be monitored very closely during your pregnancy.
What are the risks of Marfan syndrome?
- You may bleed more than expected during surgery, or develop an infection. Without treatment, your signs and symptoms may worsen, and new ones may appear. You 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. You may develop lung problems, such as a collapsed lung. This condition causes chest pain and shortness of breath.
- Your heart valves may become weak, which affects the blood flow in your heart. Your heart may not beat correctly. The walls of your 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 your body. These problems may be life-threatening.
- 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
When should I seek immediate care or call 911?
- You have severe pain in your chest or abdomen.
- You have sudden pain in your eyes and vision problems.
- You have sudden shortness of breath.
- You cannot control your urine or bowel movements.
When should I call my doctor?
- 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 cannot make it to your next appointment.
- You have questions or concerns about your condition or care.
Care AgreementYou have the right to help plan your care. Learn about your health condition and how it may be treated. Discuss treatment options with your healthcare providers to decide what care you want to receive. You always have the right to refuse treatment. 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 2022 Information is for End User's use only and may not be sold, redistributed or otherwise used for commercial purposes.
Learn more about Marfan Syndrome
Symptoms and treatments
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.