Marfan Syndrome

What is Marfan syndrome?

Marfan syndrome is an inherited disorder of connective tissue, the tissue that provides support to structures of the body such as blood vessel walls, heart valves, and cartilage.

The symptoms and characteristics of Marfan syndrome vary widely in severity and timing of onset. Some people have only mild symptoms, while others experience serious medical problems.

Marfan syndrome mainly affects the heart, blood vessels, skeleton, and eyes. Affected individuals often are tall and thin, and may have long and slender fingers, an arm span that exceeds body height, unusually flexible joints, and a long, narrow face, with a high roof of the mouth and crowded teeth. Nearly two-thirds of people with Marfan syndrome experience curvature of the spine (scoliosis) and have either a sunken or barrel chest. In approximately half of Marfan patients, the lens of one or both eyes is dislocated or off center. Nearsightedness and cataracts (clouding of the lens) are other common problems.

Most people with Marfan syndrome have abnormalities associated with the heart and blood vessels. Leaks in heart valves can cause shortness of breath, fatigue, and a fast, irregular heartbeat. The aorta, the large blood vessel that carries blood from the heart to the rest of the body, can weaken and stretch. An abnormal bulging (called an aneurysm) may develop in the weakened aorta. If the aorta tears or ruptures, it causes serious heart problems or sometimes sudden death.

How common is Marfan syndrome?

In the United States, Marfan syndrome affects 1 in 5,000 to 1 in 10,000 people. It affects males and females equally and occurs in all ethnic groups.

What genes are related to Marfan syndrome?

Mutations in the FBN1 gene cause Marfan syndrome.

The FBN1 gene produces a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. A mutation can decrease the amount and quality of fibrillin-1 that is deposited in connective tissue, which can lead to weakened structural support.

How do people inherit Marfan syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. About 25 percent of Marfan cases result from a new mutation in the gene. These cases occur in people with no history of the disorder in their family.

What other names do people use for Marfan syndrome?

  • Arachnodactyly
  • Marfan Syndrome, type 1
  • MFS

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