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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 many
complications. Sometimes the complications are life threatening.
Overview of Marfan Syndrome
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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 to each of your children.
In about 1 in 4 cases, the mutation that causes Marfan syndrome is
not inherited. Thus, the affected person is the first in his or her 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), respectively.
- Teeth that are too crowded.
- Flat feet.
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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 stretch and grow weak. This condition is called aortic dilation
(di-LA-shun) or aortic aneurysm (AN-u-rism).
If the aorta stretches and grows weak, it may tear or burst and
leak blood. This condition is called aortic dissection. It's very serious and
can lead to severe heart problems or even death.
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The type of treatment you receive depends on how the condition is
affecting your body.
Outlook for Patients with Marfan Syndrome
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.
Advances have been made in the early diagnosis and treatment of
Marfan syndrome.
It's now possible for people who have the condition 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.
It's now possible for people who have the condition to live longer and enjoy a good quality of life.
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Researchers continue to study the condition and look for better
treatments.
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