Marfan Syndrome

What is Marfan syndrome?

Marfan syndrome is a genetic disorder affecting connective tissues in many body parts. Marfan syndrome can affect the lungs, eyes, skin, skeletal system and cardiovascular system. It is caused by a mutation in the FBN1 gene, which provides instructions to the body on how to make fibrillin-1, an important part of connective tissues.

What are the signs and symptoms of Marfan syndrome?

Marfan syndrome affects many parts of the body and can cause a wide range of symptoms. In some cases, symptoms may not be noticeable until later in the late teen years or adulthood. Certain symptoms may become worse or more noticeable with time.

Some common features of Marfan syndrome include:

• Long legs, arms and fingers
• A tall and thin body type
• A long and narrow face
• Flexible joints
• Curvature of the spine (scoliosis)
• A chest that sinks in or a chest that sticks out
• Flat feet
• Stretch marks

Marfan syndrome can also cause complications:

• Many children with Marfan syndrome are nearsighted. Children may also have other vision problems such as a dislocated lens, a detached retina, cataracts and glaucoma.
• Marfan syndrome can cause a weakening of the wall of the aorta, a major artery that carries blood away from the heart. This can lead to a widening of the aorta (aneurysm) or a tear in the wall of the aorta (aortic dissection). Some children may also develop a leak in the mitral valve in the heart.
• In some cases, children may develop lung problems or have a sudden collapse of the lung.

What causes Marfan syndrome?

Marfan syndrome is caused by a genetic mutation in the FBN1 gene. This gene controls the production of fibrillin-1, a protein that helps provide strength and flexibility to connective tissue throughout the body. Most cases of Marfan syndrome are passed down from a parent. However, around 25% of cases are the result of a spontaneous genetic mutation. Marfan syndrome is hereditary.

How is Marfan syndrome treated?

There is no cure for Marfan syndrome, but treatment can be used to reduce complications. Children with Marfan syndrome will have routine visits to check their heart and aorta, skeletal system and eyes.

Treatment is different for everyone and will depend on your child’s symptoms. Your care team at Arkansas Children’s is experienced in treating Marfan syndrome and will work with you to develop the best treatment plan for your child’s specific symptoms.

• Your child may need to take beta blocker medicines to reduce the amount of stress on the aorta.
• In some cases, your child may need surgery for heart problems or to repair an abnormally shaped chest.
• If your child has eye problems, they may need eyeglasses or contacts, eye drops, medication or laser therapy. If they have severe eye problems, they may need surgery.