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What Are the Signs and Symptoms of Marfan Syndrome?

Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family.

Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening.

Marfan Traits

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.
  • A chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively.
  • Teeth that are too crowded.
  • Flat feet.

Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.

Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders.

Complications of Marfan Syndrome

Heart and Blood Vessel Complications

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 or aortic aneurysm.

If the aorta stretches and grows weak, it may tear and leak blood. This condition, called aortic dissection, can lead to severe heart problems or even death.

Aortic dissection can cause severe pain in either the front or back of the chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 9–1–1.

Marfan syndrome also can cause problems with the heart's mitral (MI-trul) valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP).

MVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can cause shortness of breath, palpitations (pal-pi-TA-shuns), chest pain, and other symptoms.

If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope. A heart murmur is an extra or unusual sound heard during the heartbeat.

Eye Complications

Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome.

Other eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye's lens). A detached retina also can occur.

Nervous System Complications

Fluid surrounds your brain and spinal cord. A substance called dura covers the fluid. In Marfan syndrome, the dura can stretch and grow weak.

This condition, called dural ectasia (ek-TA-ze-ah), can occur in people who have Marfan syndrome as they grow older. Eventually, the bones of the spine may wear away.

Symptoms of this condition are lower back pain, abdominal pain, headache, and numbness in the legs.

Lung Complications

Marfan syndrome can cause sudden pneumothorax (noo-mo-THOR-aks), or collapsed lung. In this condition, air or gas builds up in the space between the lungs and chest wall. If enough air or gas builds up, a lung can collapse.

The most common symptoms of a collapsed lung are sudden pain in one side of the lung and shortness of breath.

Conditions such as scoliosis (a curved spine) and pectus excavatum (a chest that sinks in) can prevent the lungs from expanding fully. This can cause breathing problems. Marfan syndrome also can cause changes in the lung tissue, and it can lead to early emphysema (em-fi-SE-ma).

Marfan syndrome also has been linked to sleep apnea. In people who have Marfan syndrome, the shape of the face, oral cavity, or teeth may increase the risk of sleep apnea. Sleep apnea causes one or more pauses in breathing or shallow breaths while you sleep.

Breathing pauses can last from a few seconds to minutes. They often occur 5 to 30 times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.

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Last Updated: October 1, 2010