Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides the strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other vital parts of the body.
For people with Marfan syndrome, the connective tissue lacks strength due to its abnormal chemical makeup. The syndrome affects the bones, eyes, skin, lungs, and nervous system along with the heart and blood vessels. The condition is fairly common, affecting 1 in 5,000 Americans. It is found in people of all races and ethnic backgrounds.
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One of the biggest threats of Marfan syndrome is damage to the aorta, the artery that carries blood from the heart to the rest of the body. Marfan syndrome can rupture the inner layers of the aorta, causing dissection that leads to bleeding in the wall of the vessel. Aortic dissection can be deadly. Surgery may be required to replace the affected part of the aorta.
Some people with Marfan syndrome also have mitral valve prolapse, a billowing of the heart valve that may be associated with irregular or rapid heart beats and shortness of breath. It may require surgery.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, an essential component of connective tissue that contributes to its strength and elasticity.
In most cases, Marfan syndrome is inherited from a parent, but 1 in 4 cases occurs in people with no known family history of the disease. It occurs equally in men and women, who have a 50% risk of passing on the gene to their children. Marfan syndrome is present at birth, but may not be diagnosed until adolescence or later. Everyone with Marfan syndrome has the same defective gene, but not everyone experiences the same symptoms to the same degree.
Are There Physical Traits in People With Marfan Syndrome?
People with Marfan syndrome may have:
A tall, thin build.
Long arms, legs, fingers, and toes and flexible joints.