Marfan Syndrome
Description
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
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.
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.
Who is affected?
Men, women, and children of all races can be affected by Marfan Syndrome.
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
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
Antibiotics used prior to
dental work to reduce the risk of infection in people who experience mitral
valve prolapse.
Physical activity guideline
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!
Other important information
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.
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 bedrest or hospitalized to reduce the
pressure.
Caesarian section may be
performed if labor becomes prolonged.
Resources
National Marfan Foundation, www.marfan.org
National Institute of Arthritis and Musculoskeletal and Skin Disease (NIAMS), www.niams.nih.gov
National Human Genome Research Institution (NHGRI)
American Heart Association, www.americanheart.org
Major and minor concerns of Marfan Syndrome: http://www.marfan.org/pub/resourcebook/checklist.html
References
National Marfan Foundation, www.marfan.org
Links
Information on this sheet contains only suggested guidelines. Each person must be considered individually, and in many cases, a physician's written consent should be obtained.
Submitted by Andrea D. Woodson, Ph.D Candidate, Texas Woman’s University, 2003.