Marfan Syndrome

By: Ashlee Donahoo 5th

Causes

This disease is inherited, meaning it has to be passed down from the parents. Marfan Syndrome is caused by a gene change (also called a mutation). This is a change to instructions that are stored in a gene. If one parent has Marfan syndrome, there’s a 1-in-2 chance (50 percent) that their baby will have it, too. About 1 in 4 children (25 percent) with Marfan syndrome don’t inherit the gene change from a parent. Instead, the gene changed happens during the baby’s development in the womb.

Symptoms/Characteristics

Signs and symptoms of Marfan syndrome are different for everyone. Sometimes they appear when a child is very young, or they may not show up until later in life as a teenager or an adult.

Someone with Marfan Syndrome often:

  • Is very tall and thin
  • Has loose, flexible joints
  • Has long arms, legs, fingers and toes
  • Has flat feet
  • Has a long, narrow face
  • Has teeth that are too crowded
  • Has a high roof of the mouth
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Treatment

Medications

Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture. The most commonly used drugs are beta blockers, which cause their heart to beat more slowly and with less force. Other blood pressure drugs, such as losartan (Cozaar), also show promise

Therapy

A dislocated lens in their eye can be treated effectively with glasses or contact lenses that refract around or through the lens. Surgery to replace the lens also may be an option.

Surgical and other procedures

Depending upon their signs and symptoms, procedures might include:

  • Aorta repair. If their aorta's diameter enlarges quickly or reaches a dangerous size — usually around 2 inches (5 centimeters) — their doctor may recommend an operation to replace a portion of their aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Their aortic valve may need to be replaced as well.
  • Scoliosis treatment. For some children and adolescents, doctors recommend a custom-made back brace, which is worn nearly continuously until growth is complete. If the curve in the child's spine is too great, the doctor may suggest surgery to straighten the spine.
  • Breastbone corrections. If a sunken breastbone affects the child's breathing, surgery to repair the deformity may be an option, and insurance is likely to cover it. A protruding breastbone usually doesn't cause functional problems, but it may be a cosmetic concern — which may mean insurance won't cover it.
  • Eye surgeries. If parts of their retina have torn or come loose from the back of their eye, surgical repair is usually successful. If they have cataracts, their clouded lens can be replaced with an artificial lens.

Life Expectancy

Marfan Syndrome has no cure, but with the right treatment, people with Marfan syndrome can live as long as people without the condition. They can also have fairly normal and happy lives. In the past, most wouldnt live past 40, but with modern treatments and medications they can live much longer.

3 Interesting Facts Involving Marfan Syndrome

  • Abraham Lincoln suffered from Marfan Syndrome.
  • Pulling a tooth from someone with Marfan Syndrome can kill them.
  • February is Marfan Syndrome's awareness month.