Marfan syndrome how many people have

Because the gene defect can be passed down to children, Marfan patients should talk to their doctor and a genetic counselor before having children. The defect in the gene that causes Marfan syndrome controls the production of a special protein found in the connective tissue. This protein is called fibrillin. Without enough fibrillin, the walls of the major arteries are weakened.

If the aorta the main blood supplier to the body is affected, it gets bigger or dilates , making it weaker. The weakened area of the aorta can bulge outward, creating an aortic aneurysm. Or, the aorta can tear, and blood can leak through these tears and between the tissue of the aortic wall. This is called aortic dissection.

If the aorta is stretched and weakened, this can also affect the aortic valve. In some patients, blood leaks backward through the valve instead of moving in the proper one-way, forward flow. This is called regurgitation. Your heart tries to make up for this by working harder, but with time your heart will become enlarged dilated and less able to pump blood through the body.

Fibrillin is a component of microfibrils, a group of proteins that add strength and elasticity to connective tissue. A genetic mutation is found in 90 percent to 95 percent of people with Marfan syndrome. The advances in medical and surgical management of children and adults with Marfan syndrome have resulted in high- quality, productive and long lives. A cardiologist will monitor the aorta and heart valves, an ophthalmologist will monitor the lens and retina of the eyes and an orthopaedist will monitor the spine, legs and feet.

Physical therapy, bracing and surgery are management options. The choice of these must be individualized. Every affected person should work closely with his or her physician s on their customized treatment plan. However, in general, treatment includes the following:. Antibiotics and other medications may be necessary prior to any dental or genitourinary procedures to reduce the risk of infection in people who experience mitral valve prolapse or who have artificial heart valves.

Lifestyle adaptations, such as the avoidance of strenuous exercise and contact sports, to reduce the risk of injury to the aorta. For more information about Marfan syndrome, please visit The Marfan Foundation. Health Home Conditions and Diseases. What is Marfan syndrome?

What medical problems are associated with Marfan syndrome? What are the risk factors of Marfan syndrome? Skip directly to site content Skip directly to page options Skip directly to A-Z link.

Heart Disease. Section Navigation. Facebook Twitter LinkedIn Syndicate. Marfan Syndrome. Minus Related Pages. What is Marfan syndrome? Close Some complications of Marfan syndrome can be very serious, like an aneurysm bulge of the aorta, the main artery that takes blood away from the heart.

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