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Marfan Syndrome



What Is Marfan Syndrome?

Marfan syndrome is a disorder that affects connective tissue. It is usually passed from parent to child through the genes, but may result from a new gene mutation.

What Is Connective Tissue?

Connective tissue supports many parts of your body. You can think of it as a type of "glue" between cells that:

If you have Marfan syndrome, many body systems can be affected, such as:

Who Gets Marfan Syndrome?

Men, women, and children can have Marfan syndrome. It is found in people of all races and ethnic backgrounds.

What Causes Marfan Syndrome?

Connective tissue is made of many kinds of protein. One of these proteins is called fibrillin. Marfan syndrome is caused by a defect in the gene that makes fibrillin.

What Are the Symptoms of Marfan Syndrome?

Marfan syndrome affects people in different ways. Some people have only mild symptoms, and others have severe problems. Most of the time, the symptoms get worse as the person gets older.

Skeleton

People with Marfan syndrome are often very tall, thin, and loose jointed. They may have:

Heart and blood vessels

Most people with Marfan syndrome have problems with the heart and blood vessels, such as:

Eyes

Some people with Marfan syndrome have problems with the eyes, such as:

Skin

Many people with Marfan syndrome have:

Nervous system

The brain and spinal cord are covered by fluid and a membrane. The membrane is made of connective tissue. When people with Marfan syndrome get older, the membrane may weaken and stretch. This affects the bones in the lower backbone (spine). Symptoms of this problem include:

Lungs

People with Marfan syndrome do not often have problems with their lungs. If symptoms in the lungs do arise, they may include:

How Is Marfan Syndrome Diagnosed?

There is no single test to diagnose Marfan syndrome. Your doctor may use many tools to make a diagnosis:

What Types of Doctors Treat Marfan Syndrome?

You may need special kinds of doctors to treat the many symptoms of Marfan syndrome. Your health care team may include:

How Is Marfan Syndrome Treated?

There is no cure for Marfan syndrome, but certain activities can help treat and sometimes prevent related problems.

Skeleton

Heart and blood vessels

Eyes

Lungs

Nervous system

Diet

What Do Pregnant Women with Marfan Syndrome Need to Know?

Women with Marfan syndrome can and do have healthy babies. Because pregnancy can stress the heart, pregnant women should see an obstetrician and other doctors familiar with Marfan syndrome. Your doctor can help prevent problems with your heart while you are pregnant.

What Are Some of the Emotional and Psychological Effects of Marfan Syndrome?

A genetic disorder can cause social, emotional, and financial stress. It often requires changes in outlook and lifestyle. People with Marfan syndrome may feel many strong emotions, including anger and fear. They may also be concerned about whether their children will have Marfan syndrome.

It helps people with Marfan syndrome to have:

Genetic counseling may also help you learn about the disease and the risk of passing it on to your children.

What Research Is Being Done on Marfan Syndrome?

Marfan syndrome is the focus of intense research. Scientists are studying:

-NIH



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