Marfan Syndrome
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What Is It?
What Are the Symptoms?
What Causes It?
How Is It Diagnosed?
Treatment Options
Resources and Suggestions
What Is It?
Marfan syndrome is a rare inherited disorder which causes weakening of the body's
connective tissue, a vital component of all body organs that supports and protects other
body tissues. A mutant gene causes the body to produce defective fibrillin -- a protein in
connective tissue.
What Are the Symptoms?
Marfan Syndrome can cause one or more of these symptoms:
- Heart problems -- an enlarged blood vessel.
- Tall stature -- unusually tall and slender, with particularly long arms, legs and
fingers.
- Eye problems -- Nearsightedness (myopia) is a common problem with lens becoming
"dislocated."
- Spine problems -- curvature of the spine (scoliosis).
- Breast bone -- may become indented.
- Joint pain -- some people experience joint pain.
What Causes It?
A single abnormal gene causes the Marfan Syndrome. Usually, this gene is inherited from a parent who also is affected. Approximately one-quarter of the cases occur spontaneously. The Marfan Syndrome is autosomal dominant, meaning that someone with the condition has a 50-50 chance that any offspring will inherit it.
How Is It Diagnosed?
- Because it is rare, it is important to find a doctor who is knowledgeable about the
condition.
- Detailed medical and family history
- Physical exam
- Electrocardiogram (EKG)
- Height measurement
- Eye examination
- Marfan Syndrome can affect children, but often is not diagnosed until adulthood.
Treatment Options
Depending on the problem, treatments may include:
- Protective lenses - may help protect your eyes from injury during work and sports.
- Removable back brace - doctor may prescribe a brace to stabilize the spine.
- Surgery -- in rare cases, surgery may be necessary to relieve the pressure and prevent
organ damage.
- Medications: Beta blockers (for heart problems) reduce strain on the aorta and heart
valves by lowering blood pressure and decreasing the force of heart beats. NSAIDs to
relieve joint pain
Resources and Suggestions
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