Marfan syndrome is a genetic disorder affecting the body’s connective tissues. It is caused by a mutation in a gene called FBN1 found on chromosome 15. The mutation leads to abnormal structure and function of a protein called fibrillin found in connective tissue. People with Marfan syndrome have a tall thin body, distinctly long arms, legs, fingers, and toes. Loose-jointedness and abnormalities of the chest wall and back, called scoliosis, are common. Marfan syndrome affects 1 in every 5,000 to 10,000 people. A child of an affected parent has a 50 percent chance of inheriting the syndrome.
The most serious problem associated with Marfan syndrome is weakening of the heart and blood vessels, particularly the aorta, the main blood-carrying vessel from the heart. Rupture of the aorta is a leading cause of premature death among persons with Marfan syndrome. Eye problems, including lens dislocation, detached retina, and myopia (nearsightedness) are also common.
A thorough evaluation is required to make the diagnosis of Marfan syndrome. With proper diagnosis, drug therapy, and surgery to strengthen the aorta, many people with Marfan syndrome can live a normal life span.
