Marfan syndrome

Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures.

Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Causes

Marfan syndrome is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.

The gene variant also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.

Other areas of the body that are affected include:

• Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
• The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
• The heart valves
• The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
• The skin
• Tissue covering the spinal cord
• The joints

In most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of people have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.

Symptoms

People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out.

Other symptoms include:

• A chest that sinks in or sticks out, called funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)

  Pectus excavatum

  Pectus excavatum is a medical term that describes an abnormal formation of the rib cage that gives the chest a caved-in or sunken appearance....

  

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  Pectus carinatum

  Pectus carinatum is present when the chest protrudes over the sternum. It is often described as giving the person a bird-like appearance.

  

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• Flat feet
• Highly arched palate and crowded teeth
• Hypotonia of muscles (low muscle tone)

  Hypotonia

  Hypotonia means decreased muscle tone.

  

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• Joints that are too flexible (but the elbows may be less flexible)
• Learning disability
• Movement of the lens of the eye from its normal position (dislocation)
• Nearsightedness
• Small lower jaw (micrognathia)
• Spine that curves to one side (scoliosis)

  Scoliosis

  Scoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...

  

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• Thin, narrow face

Many people with Marfan syndrome suffer from chronic muscle and joint pain.

Exams and Tests

The health care provider will perform a physical exam. The joints may move around more than normal. There may also be signs of:

• Aneurysm

  Aneurysm

  An aneurysm is an abnormal widening or ballooning of a portion of an artery due to weakness in the wall of the blood vessel. A thoracic aortic aneury...

  

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• Collapsed lung
• Heart valve problems

An eye exam may show:

• Defects of the lens or cornea
• Retinal detachment

  Retinal detachment

  Retinal detachment is a separation of the light-sensitive membrane (retina) in the back of the eye from its supporting layers.

  

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• Vision problems

The following tests may be performed:

• Echocardiogram

  Echocardiogram

  An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...

  

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• Fibrillin-1 mutation testing (in some people)

An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves. Depending on the results, you may need this test less often than yearly.

Treatment

Vision problems should be treated when possible.

Monitor for scoliosis, especially during the teenage years.

Medicine to slow the heart rate and lower blood pressure may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition may have to modify their activities. Some people may need surgery to replace the aortic root and valve.

Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.

Support Groups

More information and support for people with Marfan syndrome and their families can be found at:

• The Marfan Foundation -- marfan.org

Outlook (Prognosis)

Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan.

Possible Complications

Complications may include:

• Aortic regurgitation

  Aortic regurgitation

  Aortic regurgitation is a heart valve disease in which the aortic valve does not close tightly. This allows blood to flow from the aorta (the larges...

  

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• Aortic rupture
• Bacterial endocarditis
• Dissecting aortic aneurysm (also called aortic dissection) 

  Dissecting aortic aneurysm

  Aortic dissection is a serious condition in which there is a tear in the wall of the major artery carrying blood out of the heart (aorta). As the te...

  

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• Enlargement of the base of the aorta
• Heart failure

  Heart failure

  Heart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...

  

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• Mitral valve prolapse
• Scoliosis
• Vision problems

When to Contact a Medical Professional

Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family.

Prevention

Spontaneous new gene variants leading to Marfan syndrome (less than one third of cases) cannot be prevented. If you have Marfan syndrome, see your provider at least once every year.