What Is Marfan Syndrome?

Marfan syndrome is a disorder of connective tissue. Connective tissue holds all the parts of your body together and helps control growth. Connective tissue gets some of its strength from a protein called fibrillin 1. Fibrillin 1 also plays an important role in controlling the growth and development of the body. In Marfan syndrome, the body produces fibrillin 1 that does not work properly. As a result, the connective tissue is not as strong as it should be, and the growth and development of the body are affected.

Effects of Marfan Syndrome on the Body

The Heart and Blood Vessels

Most people who have Marfan syndrome have problems with their heart and blood vessels because of weak connective tissue.

Valves in the heart may not close properly and may let blood leak backward. The aorta––the large artery that carries blood away from the heart out to the body––may stretch and enlarge, and it can burst. The aorta also can develop a tear in its inner wall. This tear can expand and block blood flow through the aorta. This is called aortic dissection.

The Bones, Cartilage, and Ligaments

People with Marfan syndrome tend to have tall and slender bodies with arms and legs disproportionately long compared to the trunk. They also usually have long fingers and toes. The ligaments and joints are typically loose. Because of rib overgrowth, the chest may protrude or be indented. Abnormal curving of the spine, called scoliosis (sko-le-O-sis), lordosis (lor-DO-sis), or kyphosis (ki-FO-sis), can occur.

The Eyes

The most common vision problem in people with Marfan syndrome is nearsightedness (myopia). Nearsightedness is sharp vision for things that are close and blurred vision for things that are farther away. Dislocation of the lens of the eye is a hallmark of Marfan syndrome that occurs in very few other conditions. Cataracts, or glaucoma at an early age, or detached retinas, also occur in people with Marfan syndrome.

The Lungs

In Marfan syndrome, the air sacs in the lungs may be unusually large. In addition, the chest may be abnormally shaped. For these reasons, people with Marfan syndrome may have breathing problems, such as collapsed lungs (spontaneous pneumothorax) and early emphysema.

The Skin

Stretch marks, not due to weight gain or loss, commonly occur on the skin of people with Marfan syndrome.

More details about these characteristics and complications of Marfan syndrome are in the Signs and Symptoms section.

Outlook

Marfan syndrome is a lifelong disorder with no known cure. As recently as the 1970s, most people with Marfan syndrome did not survive beyond age 40–50. Some infants and children died from complications due to the condition. In most cases, death was due to heart and blood vessel problems.

Today, because of early diagnosis and better medical and surgical treatments, people with Marfan syndrome can live longer and healthier lives, with fewer and less severe complications. However, aging with Marfan syndrome poses new concerns as this chronic and progressive disorder advances. In addition, those who are not diagnosed or treated are still at risk of an early sudden death due to blood vessel problems.

July 2006