APE FACT SHEET
MARFAN SYNDROME
DEFINITION:
Marfan syndrome is a hereditary disorder of the connective tissue which affects the lungs,
skeleton, heart, and blood vessels which may cause weakness and instability. Some individuals
who are affected may have excellent stability while the heart and lungs may be affected. In other
individuals, the heart, eyes, and lungs may not be affected where the skeleton is the primary
source of disability.
A person can live his/her lifetime without knowing he/she is affected by Marfan syndrome. Two
athletes, Chris Patton, a basketball star, and Flo Hyman, a USA Olympic Volleyball player, died
as a result of ruptured aortic aneurisms associated with Marfan syndrome. The life expectancy of
a person with Marfan Syndrome is unpredictable if the disorder is not diagnosed, however, if
diagnosed, the average life expectancy is 70 years.
At least 200,000 people in the United States are affected with Marfan Syndrome. The majority of
these individuals do not know they have it or even know this disorder exits. Men, women, and
children of all races can be affected by Marfan Syndrome.
CAUSE OF MARFAN SYNDROME:
Marfan syndrome appears to be caused by a single abnormal gene (autosomal dominant) and
component of connective tissue, fibrillin, that is inherited from a parent. Any offspring will have
a 50-50 chance of inheriting the disorder.
CHARACTERISTICS OF MARFAN SYNDROME:
Some people with Marfan Syndrome are affected little while others may be affected more
severely. The disorder is known to progress as individuals age. As stated previously, Marfan
Syndrome affects the skeleton, lungs, eyes, heart and blood vessels.
Skeleton (Orthopedic)
Tall stature
Slender
Extremities may be disproportionate to rest of body
Loose joints
Sternum protruded or indented
Scoliosis
Kyphosis
Flat feet Ligament relaxation (pes planus)
Hip sockets pushed in or deepened with growth (protrusio acetabulae) during childhood;
this may lead to the development of arthritis during adulthood
Claw or hammer toes
Dislocation of major joints: shoulders, knees and hips
French, R. (1997-2004)
APE FACT SHEET
Aches and pains in the back, legs, or feet
Note: these characteristics may not occur in every individual with Marfan Syndrome.
Lungs
Tiny air sacs within the lungs become stretched or swollen causing the lung to collapse.
Eyes
Dislocation of one or both lenses of the eyes
Lens may be higher, lower, or shifted to one side
Retinal detachment
Nearsightedness (myopia)
Glaucoma
Cataracts
Heart and blood vessels
Ninety percent of people with Marfan Syndrome will have heart involvement.
The valve between left chambers of the heart is defective, large and floppy, resulting in
an abnormal valve motion. This valve may leak causing a heart murmur. Small leaks of
blood back into the heart may not cause any problems, but large leaks may cause an
individual to have a shortness of breath, fatigue, and palpitations. Aortic enlargement
may not be recognized for many years.
Aortic dilation – The aorta wall is weakened and stretched causing an increased risk for
tear or rupture (aorta dissection) causing serious heart problems or even sudden death.
Mitral valve prolapse – an abnormal billowing motion of the mitral valve during the
heart¡¯s contraction.
DIAGNOSIS:
There is no specific laboratory test to diagnose Marfan Syndrome. The following are tests that
assist in the diagnosis of Marfan Syndrome:
Echocardiogram by a cardiologist
Slit-eye exam by ophthalmologist
Skeletal exam by an orthopedist
Complete family history
TREATMENT:
There is no cure for Marfan Syndrome, however, there are ways to minimize complications.
Treatment includes the following procedures:
Annual echocardiogram
Eye examination with a slit-lamp to detect lens dislocation
Monitoring of the skeletal system especially during childhood and adolescence
Beta blocker medications to reduce stress on the aorta
French, R. (1997-2004)
APE FACT SHEET
Antibiotics used prior to dental work to reduce the risk of infection in people who
experience mitral valve prolapse.
PHYSICAL ACTIVITY GUIDELINES:
Avoid contact sports because of the risk of damaging the aorta.
Avoid strenuous exercise because of the stress placed on the aorta.
It is important to exercise and to continue aerobic exercise. Perform these activities at a
50% work level.
Avoid weightlifting, climbing steep inclines, and pull-ups. If lifting weights, use multiple
repetitions with light weight.
If cycling, keep the tension low.
Avoid activities that have frequent changes in atmospheric pressure such as scuba diving
and flying in an unpressurized aircraft.
Children diagnosed with Marfan Syndrome should be referred for Adapted physical
education.
PREGNANCY AND MARFAN SYNDROME:
Stress of pregnancy may cause extra aortic enlargement. If the aorta is enlarged, the risk
of dissection is higher
Echocardiograms should be performed in the first, second, and third trimester of
pregnancy.
If the aorta enlargement progress, women may be placed on bed rest or hospitalized to
reduce the pressure.
Caesarian section may be performed if labor becomes prolonged.
RECOMMENDED WEB SITES:
National Marfan Foundation
National Institute of Arthritis and Musculoskeletal and Skin Disease (NIAMS)
National Human Genome Research Institution (NHGRI)
American Heart Association
Content created by Andrea D. Woodson, Ph.D. Candidate, Texas Woman’s University, 2003.
French, R. (1997-2004)