Marfan syndrome is a rare disorder. It causes a defect in the body’s
connective tissue. This tissue is common throughout the body. It holds
the body together and supports many of its structures. As a result
Marfan syndrome affects many organ systems, including:
Heart and blood vessels
Marfan syndrome is caused by a defect in a gene. The gene controls a
protein needed to build connective tissue.
In almost all cases, the defective gene is passed from a parent. In very
rare cases, the defect can be caused by a mutation.
Factors that increase your risk of Marfan Syndrome 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
Symptoms of Marfan syndrome range from mild to severe. It can affect one
or many parts of the body. Some symptoms may be evident at an early age.
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
Mitral valve prolapse —can lead to
leakage of the mitral valve or irregular
Weakened or stretched aorta, the artery that leads from
Can lead to aortic aneurysm
Interior of Heart
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Dislocated eye lenses
Myopia (nearsightednesss)—sometimes severe
Tall slender build
Unusually long legs, arms, fingers, and toes
High, arched palate in the mouth
Risk for bone thinning ( osteoporosis ) in adult life
Weakening of the supportive tissue of the spine with age
Marfan syndrome is difficult to diagnose. There is no
specific 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 to examine
the size, shape, and
motion of the heart
Complete eye examination
If you have Marfan syndrome:
Your first-degree relatives (parents,
brothers, and sisters) should be
screened for the disorder
There is no cure. 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
Avoidance of strenuous exercise or
contact sports as directed by your
Heart medications such as beta-blockers
Losartan is currently
being investigated in
Particularly close monitoring of
pregnant women with Marfan syndrome
Surgery to repair or replace a defective
heart valve or aorta
For the Eyes
Regular eye examinations to check for
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
Orthopedic brace or surgery in severe
For the Back
Exercises or medication to relieve pain
caused by spinal weakness
There are no guidelines for preventing Marfan syndrome.
You can contact a genetic counselor to determine the
risk of passing the condition on to your child.
American Academy of Family Physicians http://www.aafp.org/
The National Marfan Foundation http://www.marfan.org/
Canadian Family Physician http://www.cfpc.ca/
The Canadian Marfan Association http://www.marfan.ca/
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Reviewer: Rosalyn Carson-DeWitt, MD
Review Date: 12/2011
Update Date: 12/30/2011