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Marfan Syndrome

Definition:
Marfan syndrome is a rare connective tissue disorder that affects many organ systems, including the skeleton, lungs, eyes, heart, and blood vessels. It is estimated that at least 1 in 5,000-10,000 people in the United States have the disorder. Connective tissues hold other body tissues together and provide support for many structures in the body. In Marfan syndrome, there is something wrong with the chemical make-up of the connective tissue. This can result in problems with the eyes, blood vessels, heart, spine, and lungs.

Causes:
Marfan syndrome is caused by a defect in the gene that controls a protein important for the development of connective tissue. In almost all cases, the defective gene is inherited. In very rare cases, the defect can be caused by a mutation during the formation of sperm or egg cells. The defective gene reduces production of a protein called “fibrillin-1” whose absence allows excess action of a body growth substance called “transforming growth factor-beta” (TGF). Excess TGF leads to a number of the symptoms and complications of Marfan syndrome.

Risk Factors:
A risk factor is something that increases your chance of getting a disease or condition.

Risk factors include:

  • Family members with Marfan syndrome (The child of a person with Marfan syndrome has a 50% chance of inheriting the condition.)
  • Advanced age of parents at the time of a child's birth
Symptoms:
Symptoms of Marfan syndrome range from mild to severe and can affect one or many parts of the body. Some symptoms may be evident at an early age and others may develop later in life. Some symptoms may worsen with age.

Symptoms are listed according to parts of the body they affect:

Heart and Blood Vessels
  • Abnormalities of the heart valves and blood vessels--The two leaflets of the mitral valve may billow backwards when the heart contracts (mitral valve prolapse). This can lead to leakage of the mitral valve or irregular heart rhythm.
  • Weakened or stretched aorta, the artery that leads from the heart.
Eyes
  • Dislocated eye lenses
  • Myopia (near-sightedness), sometimes severe
  • Glaucoma
  • Cataracts
  • Detachment of the retina, or part of the eye that is responsible for vision.
Bones
  • Tall slender build
  • Loose joints
  • Unusually long legs, arms, fingers, and toes
  • Crowded teeth
  • Malformed breastbone
  • Curved spine
  • High, arched palate in the mouth
  • Risk for bone thinning (osteoporosis) in adult life. This risk may lead to bone fractures.
Back
  • Weakening of the supportive tissue of the spine with age
  • Back pain
Lungs
  • Lung collapse (rare)
Diagnosis:
Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. A doctor can diagnose Marfan syndrome by:
  • Observing the symptoms
  • Performing a complete physical exam
  • Carefully studying your medical history and your family's medical history
  • Performing tests such as:
    • Echocardiogram–a test that uses high-frequency sound waves (ultrasound) to examine the size, shape, and motion of the heart
    • Complete eye examination
Treatment:
There is no cure for Marfan syndrome. Treatment is aimed at preventing or reducing complications or symptoms.

Treatment may include:

For the Heart and Blood Vessels
  • Regular monitoring of the heart and aorta with check-ups or echocardiograms
  • Avoidance of strenuous exercise or contact sports as directed by your doctor
  • Preventive antibiotics before medical procedures or dental cleaning for patients with valvular or aortic problems
  • Heart medications such as beta-blockers. Studies in animals with a comparable defect in fibrillin-1 show that a blood pressure medication called Losartan can prevent the occurrence of aortic aneurysm, the most serious risk in Marfan syndrome. Human studies will soon be underway to see if Losartan will be equally effective in reducing the risk of this unfortunately not uncommon complication.
  • Surgery to repair or replace a defective heart valve or aorta
For the Eyes
  • Regular eye examinations to check for eye problems
  • Eyeglasses or contact lenses to correct myopia or problems with the eye lens
  • Eye surgery for severe problems
For the Bones
  • Regular physical exams to monitor for bone problems, especially during adolescence.
  • Orthopedic brace or surgery in severe cases
For the Back
  • Exercises or medication to relieve pain caused by spinal weakness
For the Lungs
  • Avoid smoking
Prevention:
If you have Marfan syndrome:
  • Your first-degree relatives (parents, brothers, and sisters) should be screened for the disorder.
  • You can contact a genetic counselor to determine the risk of your child inheriting Marfan's syndrome should you decide to have children.
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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