Marfan Syndrome
By
Mike B
What is Marfan syndrome?
The Marfan syndrome is a connective tissue disorder. Connective
tissue provides substance and support to tendons, ligaments,
blood vessel walls, cartilage, heart valves and many other
structures. In the Marfan syndrome, the chemical makeup of the
connective tissue isn't normal. As a result, many of these
structures aren't as stiff as they should be.
The Marfan syndrome is inherited and affects many parts of the
body. There's no single conclusive test for diagnosing it, but
people who have it often have many similar traits. Besides
perhaps having heart problems, people with the Marfan
syndrome are often tall and thin. They also may have slender,
tapering fingers, long arms and legs, curvature of the spine and
eye problems. Sometimes the Marfan syndrome is so mild that
few (if any) symptoms exist. In the most severe cases, which are
rare, life-threatening problems may occur at any age.
What are the blood vessel
problems?
In the Marfan syndrome, the walls of the
major arteries are weakened. The aorta, the
major artery that leaves the heart, often is
affected. When this occurs, it gets bigger
(dilates), which can weaken the inner aortic
wall. Under strenuous exertion, the aorta wall
can tear. Blood can leak through these tears
into the aortic wall, separating its layers — a
process called aortic dissection. Another
problem that may occur if the aortic wall
weakens is that an aneurysm (AN'u-rizm) may
form.
What are the cardiac valve problems?
The Marfan syndrome can involve any of the four heart
valves. The two most important ones, however, are the mitral
and aortic valves. Blood may leak backward through a valve,
increasing the heart's workload. As a result, over time the
heart may enlarge. Mitral valve prolapse (MVP) is a common
but usually less significant valve problem. People without the
Marfan syndrome can have mitral valve prolapse, but those
with the Marfan syndrome often have an oversized mitral
valve. As it closes, the valve billows (prolapses) back into the
left atrium. This causes abnormal heart sounds, which a
doctor can hear with a stethoscope.
How do you treat the Marfan
syndrome?
Once the Marfan syndrome has been diagnosed, regular
visits with a cardiologist are needed. Chest X-rays and Doppler
echo tests are usually performed. Other tests also may be
necessary.
Different people may need different types of treatment.
Some people may not need treatment, but others may need
drugs that lower heart rate, blood pressure or both. When the
aorta or aortic valve develop major problems, surgery is
usually advised.
Physical activities
Because the Marfan syndrome appears in many forms,
recommendations about exercise vary widely. For example,
people with dilation of the aorta may be asked to avoid the
usual team sports. Isometric exercises (such as weight lifting
or rowing) and contact sports in which a blow to the chest
could occur (such as football or hockey) also may be off-limits.
Many people with the Marfan syndrome can participate in
modified physical and recreational activities. A cardiologist
can give advice about this.
Pregnancy
During pregnancy (and especially during delivery) stress
to the aorta's walls greatly increases the risk of dissection or
rupture. That's why pregnancy isn't advised for women with
the Marfan syndrome who have a dilated aorta. There's also a
good chance that people with the disease may pass it on to
their children.
Parts of the Body Effected by Marfan
Syndrome