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Marfan Syndrome


About this topic


Marfan syndrome is a disorder of the connective tissue of the body. Connective tissue helps to hold the body together. Marfan syndrome can affect the connective tissue any place on the body. You may have problems with your bones, eyes, heart, blood vessels, nerves, skin, and lungs. It does not affect your intelligence. Marfan syndrome is a problem that you are born with. You may not know that you have it until later in life. There is no cure for this disorder. The aim of treatment is to control the problems that may happen. ‚  

What are the causes?


Marfan syndrome is caused by a flaw in a gene. It changes how your connective tissues are made. Most often, this gene is passed down from a parent to a child. If one parent has this gene, there is a 50% chance of a baby having this problem. Sometimes, there is no family history of this disease. ‚  

What can make this more likely to happen?


You are more likely to have this problem if you have a parent with Marfan syndrome. ‚  

What are the main signs?


Some people may have very mild signs while some may have more severe signs. ‚  
  • Bones:
    • Tall, thin people with long legs, arms, fingers, and toes
    • Long, thin face
    • Crowded teeth
    • Loose joints
    • Scoliosis ¢ ˆ ’ Curve of the spine
    • Breastbone caves in or juts out
    • Flat feet
  • Eyes:
    • Lens dislocation in the eye ¢ ˆ ’ More than half have this
    • Nearsighted
    • Early glaucoma
    • Glaucoma
    • Retina detaches
  • Heart:
    • Aorta dilation ¢ ˆ ’ Main blood vessel carrying blood from the heart weakens and stretches
    • Aortic dissection ¢ ˆ ’ Aorta tears; can lead to sudden death
    • Leaky heart valves and heart murmur
    • Irregular or fast heartbeat
    • Trouble breathing
    • Feeling tired
  • Nerves:
    • Tissue around the brain and spinal cord can stretch and weaken. This may cause cause pain, numbness, or weakness in the arms or legs.
  • Skin:
    • Stretch marks without weight changes
    • Hernia or intestine bulge in the belly or groin
  • Lungs:
    • Air sacs may become stretched and lead to a collapsed lung
    • Breathing problems during sleep like snoring or sleep apnea
    • Early emphysema

How does the doctor diagnose this health problem?


  • Your doctor will take your history. If your doctor thinks you may have Marfan syndrome, your doctor will measure your height and arm length and look at your back. Your doctor will also check your eyes, heart, and lungs.
  • Your doctor will do an exam and may order:
    • Electrocardiogram (ECG)
    • Eye exams
    • X-rays
    • CT or MRI scan

How does the doctor treat this health problem?


Your doctor may have you avoid any activities or sports that could put you at risk for injury. There is no cure for this problem. Treatment is aimed at controlling signs or problems. ‚  
  • Bones:
    • Yearly exams to check the spine and breastbone
    • Brace or surgery if needed
  • Eyes:
    • Regular eye exams
    • Glasses or contact lenses
    • Surgery, if needed
  • Heart:
    • Regular exams and ECGs
    • Drugs
    • Surgery. If heart surgery happens, you may need to take blood thinners for the rest of your life.
  • Nerves or lining around the spinal cord and brain: Drugs to lessen pain and swelling
  • Lungs:
    • Quit smoking if you are a smoker.
    • Treat breathing problems during sleep
  • Emotional effects:
    • Support groups
    • Counselors

What lifestyle changes are needed?


  • People with Marfan syndrome should always have antibiotics before dental work. This lowers the risk of infection to the lining of the heart.
  • Pregnant women who have Marfan syndrome should be closely watched. Pregnancy puts more stress on the heart.

What drugs may be needed?


Your doctor may order drugs based on what problems you are having. The doctor may order drugs to: ‚  
  • Help with pain and swelling
  • Treat heart problems
  • Treat eyesight problems
  • Treat breathing problems

What problems could happen?


  • Eyesight problems
  • Scoliosis
  • Back pain
  • Leaky heart valves
  • Enlarged heart
  • Heart failure
  • Aortic dilation or dissection
  • Lung problems
  • Infection of the lining around the heart. This is bacterial endocarditis.
  • Pregnancy problems

What can be done to prevent this health problem?


There is nothing that can be done to prevent this problem. ‚  

When do I need to call the doctor?


Activate the emergency medical system right away if you have signs of a heart attack. Call 911 in the United States or Canada. The sooner treatment begins, the better your chances for recovery. Call for emergency help right away if you have: ‚  
  • Signs of heart attack:
    • Chest pain
    • Trouble breathing
    • Fast heartbeat
    • Feeling dizzy

Call your doctor if you have: ‚  
  • Sudden pain in your belly or pain in your belly that does not go away
  • Sudden eyesight problems
  • Weakness or numbness in the arms or legs
  • You are not feeling better in 2 to 3 days or you are feeling worse

Where can I learn more?


KidsHealth ‚  
http://kidshealth.org/teen/diseases_conditions/genetic/marfan.html ‚  
National Institute of Arthritis and Musculoskeletal and Skin Diseases ‚  
http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/default.asp ‚  
National Marfan Foundation ‚  
http://www.marfan.org/marfan/2439/Living-with-Marfan-Syndrome ‚  
National Organization for Rare Disorders ‚  
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/27/viewAbstract ‚  

Consumer Information Use and Disclaimer


This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care providers advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you. ‚  

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