Marfan Syndrome

...less medical jargon in a 'Quick Glance' format!

Marfan Syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In this syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, This disease can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs.

It affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.

The signs and symptoms vary from one person to another, even within the same family. Some people have mild signs and symptoms, while others may have severe problems and discomfort. Signs and symptoms occur in many parts of the body, including:

  • The bones and ligaments
  • The heart and blood vessels
  • The eyes
  • The lungs
  • The skin

  • . . . Appearance
    Some of the major signs of are the common physical features seen in people with the condition.

  • A tall, slender body build. They may be very tall or taller than other family members who do not have the condition. However, it should be noted that short, heavy people also can have this syndrome.
  • Long arms, legs, fingers, and toes. A person’s arm span may be greater than his or her height.
  • A long and narrow face.
  • A highly arched roof of the mouth with crowded teeth.
  • A receding lower jaw, causing an overbite.
  • A protruding or sunken chest.
  • A curved spine.
  • Flat feet that are rotated inward

  • Causes:
    Marfan syndrome is caused by a defect in the gene that determines the structure of fibrillin, a protein that is an important part of connective tissue. A person with this syndrome is born with the disorder, even though it may not be diagnosed until later in life. Although everyone with this has a defect in the same gene, the mutation is specific to each family and not everyone experiences the same characteristics to the same degree. This is called variable expression, meaning that the defective gene expresses itself in different ways in different people. Scientists do not yet understand why variable expression occur.

    The defective gene can be inherited: The child of a person who has this syndrome has a 50 percent chance of inheriting the disease. Sometimes a new gene defect occurs during the formation of sperm or egg cells, but two unaffected parents have only a 1 in 10,000 chance of having a child with the syndrome. Possibly 25 percent of cases are due to a spontaneous mutation at the time of conception.

    Visual problems should be corrected when possible. Care should be taken to prevent the development of scoliosis, especially during adolescence.

    Medicine to slow the heart rate may help prevent stress on the aorta. Competitive athletics and contact sports should be discouraged so that injury to the heart does not occur. In some cases, surgical replacement of the aortic root and valve is needed.

    People with this disease should take antibiotics before dental procedures in order to prevent endocarditis. Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.

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    ...less medical jargon in a 'Quick Glance' format!