Marfan Syndrome

Marfan syndrome is a genetic disorder that causes connective tissues, which provide shape and support to many parts of the body, not to be as stiff as they should. Because these connective tissues are found throughout the body, Marfan syndrome can affect many organs, including the skin, skeleton, eyes, nervous system as well as blood vessels and heart.

Who Gets It?

It is estimated that about 1 in 10,000 to as many as 1 in 3,000 people in the United States have Marfan syndrome. Race and sex makes no difference in prevalence of this condition - both men and women of all ethnicities can have it.

Symptoms of Marfan Syndrome

The symptoms of Marfan Syndrome are:

  • Tall, thin stature with long limbs
    For most people, armspan and height are roughly equal - in people with Marfan Syndrome, armspan is longer.

  • Long, flexible fingers and toes

Flexible fingers in Marfan Syndrome
Extremely flexible, long fingers are a hallmark symptom of Marfan Syndrome

  • Easy dislocation and loose joints, as well as scoliosis or abnormal side-to-side curvature of the spine

  • Sunken or pushed-out breastbone
    In some people with Marfan Syndrome, their ribs can outgrow and push the breastbone in or out, resulting in either a hollow spot or a bump. Although in most cases this is a minor and subtle symptom, in severe cases it can cause compromise the heart's and lung's functions.

  • Vision problems
    These include nearsightedness (myopia) and off-center eye lense (ectopia lentis). People with this condition are also prone to retinal detachment, which is a medical emergency and often requires immediate surgery. Left untreated, it can cause permanent blindness.

  • Weak blood vessels (especially the aorta) and abnormal heart valves
    This is the most serious symptom of Marfan Syndrome: because of weakened connective tissue, people with this condition can develop aortic dissection (tear and weakening in the inner layer of the aortic wall) and aneurysm (a sudden and dangerous weakness in the wall that can cause the blood vessel to baloon outward). Both of these conditions can lead to fatal rupture of the aorta.

    Weak connective tissues can also cause abnormalities in the heart valves, especially in the mitral valves. Approximately 85% of all people with Marfan Syndrome develop mitral valve prolapse, a condition where the valve leaflets are too floppy and do not close properly.

In some people, the symptoms of Marfan Syndrome are very mild and are usually not very noticeable.

Marfan Syndrome Causes

Marfan Syndrome is caused by a DNA mutation in the fibrillin-1 (FBN1) gene in chromosome 15. This causes mutation causes various connective tissues to be weakened.

Treatment for Marfan Syndrome

There is no cure for this condition.

Early diagnosis of Marfan Syndrome in children is important to prevent scoliosis and other skeletal deformities. If abnormal curvature of the spine is present, a back brace may be necessary. Children with this disorder also need regular health check ups by an opthalmologist and a dentist. Sternous physical activities, as well as contact sports, should be avoided.

Because of their weak aorta and abnormal heart valves, people with Marfan Syndrome should take precautionary dose of antibiotics prior to any medical or dental procedures to prevent bacterial infection, such as endocarditis.

In Marfan Syndrome, abnormal heart valves and aortic wall can make the heart beat faster and worker harder than it should. To slow the heart and decrease its force of contraction, beta blockers are often prescribed.

If the aorta becomes too enlarged, an aortic replacement surgery may be necessary.


Left untreated, heart failure and aortic rupture from Marfan Syndrome commonly causes death by the age of 40 and 50. With proper medical treatment, however, the average lifespan is increased to about 70 years.

Marfan Syndrome - eMedicine
Janis Cortese - Marfan Syndrome

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