Frequently Asked Questions About Marfan Syndrome

electrocardiogram test

Story at-a-glance -

  • Twenty-five percent of Marfan syndrome cases are the result of a new mutation in the FBN1 gene. This means that the disease can appear in people who have no history of disorder in their family
  • Recent advances in medicine have allowed people with Marfan syndrome to live a full life up to the age of 70. Back in the 1970s, life expectancy was just at the age of 41 (+/- 18) years
  • Scientists believe that mutations in the FBN1 gene cause Marfan syndrome. This gene is responsible for producing the protein fibrillin-1, which binds itself to other proteins to form microfibils

Q: How is Marfan syndrome inherited?

A: According to the Genetics Home Reference by the U.S. National Library of Medicine, Marfan syndrome is inherited through an autosomal dominant pattern. This means that a copy of the defective gene coming from a single parent is enough to cause the disease in a child. You may refer to this picture to give you a clearer idea how it occurs.1

However, 25 percent of Marfan syndrome cases are the result of a new mutation in the FBN1 gene. This means that the disease can appear in people who have no history of disorder in their family.2 You can view this image to see in a proper context how this happens.

Q: How is Marfan syndrome diagnosed?

A: Once symptoms of Marfan syndrome appear, the first step to achieving an accurate diagnosis is a review of your family's medical history, including other relatives who may have developed the ailment, as well as a physical examination. From there, these other tests may be conducted:3

Echocardiogram: This assessment looks at your heart and its surrounding blood vessels to search for potential problems in terms of function.

Electrocardiogram (EKG): This method measures your heart rate and rhythm to supplement the findings from your echocardiogram.

Eye examination: A doctor may look at your eyes to see if the lenses are out of place.

Imaging tests: A computerized tomography (CT) scan or a magnetic resonance imaging (MRI) of your body may reveal other problems related to Marfan syndrome, especially in the lower back. Those who suffer from this condition are generally affected in this area.

Genetic testing: You may ask for a genetic test to rule out the possibility of Marfan syndrome. It may also help inform other family members who may be at risk.

Q: How long should you expect to live if you have Marfan syndrome?

A: Recent advances in medicine have allowed people with Marfan syndrome to live a full life up to the age of 70. Back in the 1970s, life expectancy was just at the age of 41 (+/- 18) years.4

Q: Can you die from Marfan syndrome?

A: Yes, it's possible that Marfan syndrome can directly lead to death. Flo Hyman, a U.S. Olympian, died in 1986 at the age of 31 due to a ruptured aorta as a result of the disease.5

Q: What type of mutation causes Marfan syndrome?

A: Scientists believe that mutations in the FBN1 gene cause Marfan syndrome. This gene is responsible for producing the protein fibrillin-1, which binds itself to other proteins to form microfibils. These become part of fibers that provide strength and flexibility to connective tissue.6

Q: Can Marfan syndrome be prevented?

A: Marfan syndrome cannot be prevented. The best way to manage it is through early diagnosis and proper education about the disease.7

MORE ABOUT MARFAN SYNDROME

Marfan Syndrome: Introduction

What Is Marfan Syndrome?

Marfan Syndrome Symptoms

Marfan Syndrome Causes

Marfan Syndrome Treatment

Marfan Syndrome Prevention

Marfan Syndrome Diet

Marfan Syndrome FAQ


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