Marfan's syndrome

Marfan's syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue provides strength and flexibility to structures such as the skin, ligaments, and blood vessels. Marfan's syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This defect causes an increase in a protein that causes the long bones of the body to grow too much and the connective tissue to be weak.

Signs and Symptoms

People with Marfan's syndrome are often tall and thin with disproportionately long arms, legs, fingers and toes. The most serious complications associated with Marfan's syndrome involve the heart and blood vessels. The syndrome can affect the aorta, the main blood vessel supplying oxygenated blood to the body, and can cause the aortic valve to leak, leading to aortic dissection and heart failure.

Other signs and symptoms associated with Marfan's syndrome include:

• Myopia (nearsightedness)
• Dislocated lens of the eye
• Flat feet
• Highly arched palate and crowded teeth
• Scoliosis (curvature of the spine)
• Protruding or indented breastbone
• Mitral valve prolapse

Diagnosis

Marfan's syndrome is diagnosed based on a thorough physical examination, including an evaluation of medical history and family history. Genetic testing can also be used to identify mutations in the fibrillin gene.

Treatment

There is no cure for Marfan's syndrome. Treatment is aimed at managing the symptoms and reducing the risk of complications. This may include medications to lower heart rate and blood pressure to reduce stress on the aorta, pain relievers, and physical therapy. In some cases, surgery may be needed to repair the aorta or replace a heart valve.

Prognosis

With proper management, individuals with Marfan's syndrome can have a normal lifespan. Regular follow-up appointments with a doctor are important to monitor any changes in the heart and aorta.

See Also

• Genetic disorders
• Connective tissue
• Aortic dissection
• Mitral valve prolapse

Marfan's syndrome Resources
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