is the Marfan Syndrome?
The Marfan syndrome is a heritable disorder of the connective
tissue that affects many organ systems, including the skeleton,
lungs, eyes, heart and blood vessels. The condition affects both
men and women of any race or ethnic group. It is estimated that
at least 200,000 people in the United States have the Marfan syndrome
or a related connective tissue disorder.
medical problems are associated with the
• The Cardiovascular System
most serious problems associated with the Marfan syndrome involve
the cardiovascular system. 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
addition, the aorta, the main artery carrying blood away from
the heart, is generally wider and more fragile in patients with
the Marfan syndrome. This widening is progressive and can cause
leakage of the aortic valve or tears (dissection) in the aorta
wall. When the aorta becomes greatly widened, or tears, surgical
repair is necessary.
manifestations common in people with the Marfan syndrome include
curvature of the spine (scoliosis), abnormally shaped chest (pectus
deformity), loose jointedness and dispropor-tionate growth usually,
but not always, resulting in tall stature.
with the Marfan syndrome are often near-sighted (myopic). In addition,
about 50 percent have dislocation of the ocular lens.
is Marfan syndrome diagnosed?
The Marfan syndrome is difficult to diagnose because there
is no specific laboratory test for the condition. In addition, characteristics
of the disorder vary greatly among affected individuals. Most affected
people do not have all of the possible signs and complications of
accurate diagnosis of the Marfan syndrome can be assessed after
a complete physical examination that focuses on the systems affected
by the disorder. This includes:
• Echocardiogram, a sound wave picture of the heart
by a cardiologist.
• Slit-lamp eye examination by an ophthalmologist.
• Skeletal examination.
• Complete family history.
The recent identification of the chromosome, gene and component
of connective tissue (fibrillin) in which the mutation for the Marfan
syndrome is located offers great promise for the diagnosis of the
condition. It is hoped that as a better understanding of fibrillin
is gained, earlier and more accurate diagnosis of the Marfan syndrome
will be possible.
is the Marfan syndrome treated?
People affected by the Marfan syndrome should be treated by
a physician familiar with the condition and how it affects all body
systems. There is no cure for the disorder yet, but careful medical
management can greatly improve the prognosis and lengthen the life
affected person should work closely with his/her physician(s) for
their customized treatment plan. However, in general, treatment
includes the following:
Annual echocardiogram to monitor the size and function of the
heart and aorta.
• Initial eye examination with a slit-lamp to detect lens
dislocation, with periodic follow-up with an ophthalmologist.
• Careful monitoring of the skeletal system, especially during
childhood and adolescence.
• Beta-blocker medications may be prescribed to lower blood
pressure and, consequently, reduce stress on the aorta.
• Antibiotics may be prescribed prior to dental or genito-urinary
procedures to reduce the risk of infection in people who experience
mitral valve prolapse.
• Lifestyle adaptations, such as the avoidance of strenuous
exercise and contact sports, are often necessary to reduce the risk
of injury to the aorta.
causes the Marfan syndrome?
single abnormal gene causes the Marfan syndrome. Usually, this gene
is inherited from a parent who is also affected. Approximately one-quarter
of the cases occur as a result of a spontaneous mutation.
Marfan syndrome is autosomal dominant, indicating that someone with
the condition has a 50-50 chance that any offspring will inherit