What Is Marfan Syndrome?
Marfan syndrome is a condition in which your body's
connective tissue is abnormal. Connective tissue helps support all parts of
your body. It also helps control how your body grows and develops.
Marfan syndrome most often affects the connective
tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the
spinal cord. Because the condition affects many parts of the body, it can cause
a number of complications. In some cases, the complications are life
threatening.
Overview
Marfan syndrome is a genetic disorder. A mutation,
or change, in the gene that controls how the body makes fibrillin causes Marfan
syndrome. Fibrillin is a protein that plays a major role in your bodys
connective tissue.
Most people who have Marfan syndrome inherit it from
their parents. If you have Marfan syndrome, you have a 50 percent chance of
passing the altered gene on to each of your children. In about 1 in 4 cases,
Marfan syndrome occurs because of a spontaneous mutation. Thus, the affected
person is the first in their family to have the condition.
Marfan syndrome often affects the long bones of the
body. This can lead to signs, or traits, such as:
- A tall, thin build.
- Long arms, legs, fingers, and toes and flexible
joints.
- A spine that curves to one side. This condition
is called scoliosis (sko-le-O-sis).
- A chest that sinks in or sticks out. These
conditions are called pectus excavatum (eks-ka-VA-tum) and pectus carinatum
(ka-ri-NA-tum).
- Teeth that are too crowded.
- Flat feet.
Marfan syndrome traits vary from person to person,
even in the same family. Some people who have the condition have many traits,
while others have few.
The most serious complications of Marfan syndrome
involve the heart and blood vessels. Marfan syndrome can affect the aorta, the
main blood vessel that supplies oxygen-rich blood to the body. In Marfan
syndrome, the aorta can weaken and stretch. This condition is called aortic
dilation or
aortic
aneurysm (AN-u-rism).
If the aorta weakens and stretches, it may tear or
burst and leak blood. This condition is called aortic dissection. This serious
complication can lead to severe heart problems or even death.
Marfan syndrome has no cure, but treatments can help
delay or prevent complications of the condition. Treatments include medicines,
surgery, and other therapies. Limits or changes to certain activities may help
reduce the risks to the aorta, eyes, and joints.
The type of treatment you receive depends on how the
condition is affecting your body.
Outlook
About 1 out of every 5,000 people in the United
States has Marfan syndrome. Men, women, children, and people of all races can
have the condition.
New advances have been made in the early diagnosis
and treatment of Marfan syndrome. It's now possible for people who have Marfan
syndrome to live longer and enjoy a good quality of life. Many people who have
Marfan syndrome and are properly diagnosed and treated may live an average
lifespan.
Researchers continue to study the condition and look
for better treatments.
February 2009
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