Signs and symptoms

Because Marfan syndrome can affect so many body systems, the signs and symptoms of the disease vary greatly, even among members of the same family. Some people experience only mild effects, whereas others have severe problems. In most cases, the disease tends to worsen with age.

The most common traits and problems associated with Marfan syndrome include the following:

Physical appearance

Many, but not all, people with Marfan syndrome share certain physical characteristics. They're often tall and slender, with spidery fingers and toes (arachnodactyly) and legs and arms that are disproportionately long for the rest of their body.

People with Marfan syndrome also tend to have:

• Loose, excessively flexible joints
• Curvature of the spine (scoliosis)
• A breastbone that protrudes outward (pectus carinatum) or is concave (pectus excavatum)
• A narrow face
• A high, arched palate and crowded teeth
• Flat feet

Heart and blood vessels (cardiovascular system)

The great majority of people with Marfan syndrome have heart and artery problems. These are the most serious aspects of the disease and account for the majority of deaths. They include:

Aortic aneurysm. This is a bulge in the aorta, the large artery that runs from your heart down the center of your chest, through your abdomen and eventually splits into two arteries, one of which serves each leg.

In people with Marfan syndrome, the walls of the aorta are inherently weak. The aneurysm usually originates at the point where the aorta leaves the heart and may extend into the abdomen. Over time, the constant pressure of blood through the weakened aorta can cause the aneurysm to enlarge further.

Complications of aneurysms include rupture and aortic dissection (see below). Rupture of the aorta will lead to life-threatening internal bleeding if not treated promptly with surgery. In general, the larger the aneurysm, the greater the risk of dissection and rupture. If you have Marfan syndrome, your doctor is likely to check for early signs of an aneurysm and monitor the size of the aorta regularly.

Aortic dissection.

This occurs when a tear develops in the wall of your aorta. Aortic dissection is a particular concern for people with Marfan syndrome because the aorta is more fragile than it is in other people. This inherent weakness causes the aorta's walls to stretch (aortic dilation) and, in time, to tear or even rupture if the dilation isn't treated with replacement. Fewer than half the people who experience an aortic rupture survive.

A weakened or enlarged aorta may not cause any symptoms, although leaking of blood back into your heart may make you feel short of breath during routine activities. But aortic dissection is likely to cause sudden, severe, stabbing or ripping pain just under your sternum that radiates straight through to your back.

Mitral valve prolapse.

The mitral valve separates the two chambers on the left side of your heart: the left atrium and left ventricle. In Marfan syndrome, the valve may be long and floppy so that the twin flaps (leaflets) of tissue that make up the valve billow up when the left ventricle contracts and fail to close correctly. This allows blood to leak from the ventricle back into the atrium. Using a stethoscope, your doctor may hear a clicking sound as the valve's leaflets billow out, and then a murmur from blood flowing back into your atrium.

Although mitral valve prolapse may not cause symptoms, complications can occur if the valve is especially leaky and the backflow of blood (mitral valve regurgitation) is large. In severe cases, you may have trouble catching your breath or your heart may enlarge because it has to work harder to get blood out into your body. This can lead to abnormal heart rhythms (arrhythmias) and to congestive heart failure, which occurs when your heart can't pump enough blood to meet your body's needs. Because the mitral valve is abnormal, you'll also be more prone to valve infection (endocarditis).

Eyes

Most people with Marfan syndrome have some sort of vision problem, such as:

Shifting (dislocation) of the lens in one or both eyes because of weakness in the ligaments that hold the lens in place.
Extreme nearsightedness (myopia).
Glaucoma, a condition in which abnormally high pressure within your eyes damages the optic nerve. Signs and symptoms may range from sensitivity to light and glare to severe eye pain, blurred vision and blindness.
A cataract, which clouds the eye's normally clear lens.
Detachment or tear in the retina, the light-sensitive tissue that lies smoothly against the inside back wall of your eye and sends messages to your brain through your optic nerve

Skeleton

Because people with Marfan syndrome often have unusual bone growth and weak ligaments, they're prone to a number of skeletal problems, such as:

Scoliosis.

About half the people with Marfan syndrome develop scoliosis, a condition in which the bones of the spine (vertebrae) twist into an S or C shape. But only about a third of these people have scoliosis severe enough to need treatment.

The spinal curvature is measured by the angle between the vertebrae as seen on an X-ray and is expressed in degrees. The curve can occur in your upper or lower spine and may be relatively slight (less than 20 degrees) or large (more than 70 degrees).

When the curve is severe, your rib cage may press against your lungs, making it difficult to breathe. A curve greater than 100 degrees can impair the function of your heart and lungs and increase your risk of pneumonia and other lung infections. Scoliosis also puts you at higher risk of bone loss (osteoporosis), chronic back pain, and inflammation and arthritis of the spine (spondylosis). A brace or surgical treatment may be needed.

Spondylolisthesis.

This occurs when one vertebra slips forward over another, often near the end of your spine. Anyone can develop spondylolisthesis, but it's much more common in people with Marfan syndrome. Although it usually doesn't cause permanent damage, spondylolisthesis can lead to back pain and stiffness.
Foot pain. People with Marfan syndrome often have long, slender feet with arches that are flatter than normal. Because the feet are delicate, they're not able to withstand the ordinary stresses placed on them, which may lead to chronic foot pain. Using special cushions, inserts or orthotics and wearing comfortable, low-heeled shoes can usually help.