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What is Marfan Syndrome?

Marfan syndrome (also known as Marfan’s syndrome) is a progressive genetic disorder, affecting connective tissue. Patients with Marfan disorder typically have long limbs and long thin fingers, and they are unusually tall. This syndrome affects the skeletal and cardiovascular system, eyes, and skin.

This syndrome was first described in 1896 by Antoine Marfan, a French paediatrician and it was named after him. The hereditary gene that is linked to this genetic disorder was identified by renowned geneticist Francesco Ramirez in 1991.

Fast Facts about Marfan Syndrome

  • Marfan syndrome is largely a heredity disorder caused by defects in the gene known as Fibrillin-1. Less than 30% of all cases are due to a sporadic, mutated gene which is not inherited. It affects males and females equally, and is not local to any one geographic region or any particular race.
  • The main signs of Marfan syndrome are that patients are unusually tall, with long thin fingers, arms and legs. Their chest may seem ‘caved in’ or sunken; they may have vision problems or have detached retinas.
  • Complications from the disorder can include scoliosis (a curved spine,) heart failure, aortic rupture, and collapsed lung.
  • There is no known cure for this syndrome, and treatment is largely done to ease symptoms.
  • Patients must be monitored very closely to check for any complications that may arise. Participating in contact sports is strongly discouraged, as this may damage the heart. Pregnant women with Marfan syndrome must also be monitored closely, as they have an increased stress on their heart. Anti-inflammatory medications and antibiotics and may be prescribed to ease certain symptoms.
  • Several tests may need to be performed in order to make a positive diagnosis for Marfan syndrome. These include a physical exam, eye exam, blood tests, chest x-rays and a look at family history.
  • There is a foundation in place to help patients with Marfan syndrome find the latest news, medical findings and fundraising news. It also provides support for those patients who need help with the emotional and psychological effects of the disorder.

Causes of Marfan Syndrome

Defect in a gene known as fibrillin-1 was identified to cause Marfan syndrome. This gene happens to be an important building block of the body’s elastic tissue.

This genetic defect causes the long bones of the body to overgrow. As a result, the patients with Marfan syndrome are unusually tall and they have disproportionately long arms and legs. It is not yet fully understood how exactly this overgrowth occurs.

Other areas of the body can also be affected, including lung tissue, the aorta, eyes, skin and the tissue that covers the spinal cord.

Marfan syndrome is largely inherited, but not always. Up to 30% of cases have been diagnosed, with no family history of the disease. These cases are known as ‘sporadic.’

Risk Factors for Marfan Syndrome

Since this is a genetic disorder, those who have Marfan syndrome have a greater risk of passing the gene along to their children.

Symptoms of Marfan Syndrome

People who have Marfan syndrome are very tall and have long thin arms and legs. They also have long thin ‘spider-like’ fingers, known as arachnodactyly. Their arms are much longer than their height when they have their arms outstretched.

Other symptoms may include but are not necessarily related are:

  • Learning disability
  • A sunken or funnel type chest
  • Flat feet
  • Hypotonia
  • Joints that are extremely flexible
  • Short-sightedness
  • Narrow, thin face

Diagnosing Marfan Syndrome

Marfan Syndrome is typically diagnosed through a physical exam. The doctor will be looking for the following factors for diagnosis:

  • Collapsed lung
  • Aneurysm
  • Heart valve issues
  • Vision problems
  • Lens or cornea defects (of the eye)
  • Retinal detachment
  • Other tests may follow the initial physical exam:
  • Abnormal echocardiogram
  • Fibrillin-1 mutation testing

The criterion for diagnosing Marfan syndrome was agreed upon on an international level in 1996. A diagnosis is largely based on family history and a mixture of minor and major indicators of the disease.

Treatment Options for Marfan Syndrome

Marfan syndrome is a genetic disorder, therefore, there is no known cure for it today. The role of the available treatments is mainly to ease symptoms.

Vision problems should be treated whenever possible.

A typical complication of Marfan syndrome is scoliosis. This must be monitored and checked for on a regular basis, especially among adolescents.

Prescription medication may be provided in order to slow the heart rate, and lessen stress on the aorta. Participating in athletic and contact sports is greatly discouraged, as it could injure the heart. Some patients may require surgery to replace the aortic valve and root.

Antibiotics should be taken before any dental procedures are done in order to prevent endocarditis.

Pregnant women need to be monitored extremely closely due to the increased stress on the aorta and heart.

Prevention of the Marfan Syndrome

Marfan syndrome is a genetic condition and thus it cannot be prevented. Patients with Marfan syndrome need to see their doctor at least once a year.

Coping with Marfan Syndrome

There are several possible complications that can arise from Marfan syndrome, and care must be taken in order to try to prevent these. They include:

  • Scoliosis
  • Aortic rupture
  • Aortic regurgitation
  • Heart failure
  • Bacterial aortic aneurysm
  • Vision problems

Close monitoring from a medical professional is the best way to help prevent and manage these complications.

Where to Get More Information: The Marfan Foundation