Top Videos and Slideshows

5 Facts About Marfan Syndrome: Symptoms and Causes

5 Facts About Marfan Syndrome

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs in the body. One of these proteins is fibrillin. An issue with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can significantly vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent further complications. Treatments include medicines, surgery, and other therapies.

Who has Marfan syndrome?

About 1 in 5,000 people have Marfan syndrome, including men and women of all races and nationalities. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. However, some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50% chance that a people with Marfan syndrome will pass along the genetic mutation on their children.

Symptoms

The signs and symptoms of Marfan syndrome vary significantly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.Marfan syndrome features may include:

  • Tall and slender build
  • Disproportionately long arms, legs and fingers
  • A breastbone that protrudes outward or dips inward
  • Heart murmurs
  • Extreme nearsightedness
  • Flat feet

Causes

Marfan syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life.

The defective gene that causes Marfan syndrome can be inherited: The child of a person who has Marfan syndrome has a 50% chance of inheriting the disease. Sometimes a new gene defect occurs during the formation of sperm or egg cells, making it possible for two parents without the disease to have a child with the disease. But this is rare. Two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome. Possibly 25% of cases are due to a spontaneous mutation at the time of conception.

Treatment

Although there is no real cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome rarely lived past the year of 40. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life than before.

Living with this genetic disorder can be very difficult for both adults and children. Adults who receive a diagnosis later in life may wonder how the disease will affect their career, their relationships and many other aspects of life. And they may worry about passing the defective gene to their children. All your doctors will want to hear about your specific symptoms, and whether anyone in your family has had Marfan syndrome or experienced an early, unexplained heart-related disability or death.However, it is good to know that you can still lead somewhat normal life.