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Definition

Marfan syndrome is a rare genetic problem that affects the body’s connective tissue. Connective tissue supports and connects many of the body's structures. Marfan syndrome affects many systems in the body, such as the:

  • Skeleton, especially the joints
  • Heart and the aorta, which is the artery that leads from the heart
  • Lungs
  • Eyes

Interior of Heart
Prolapsed mitral valve

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Causes

This problem is caused by a faulty gene. It is inherited from a parent.

Risk Factors

This problem is more common in people who have family members with Marfan syndrome.

Symptoms

Problems range from mild to severe. It can affect one or many parts of the body. Some symptoms may happen at an early age. Others may happen later in life or worsen with age.

The problems a person will have depend on the parts of the body affected by Marfan syndrome. Some problems may be:

  • Long arms, legs, and fingers
  • A tall, thin body
  • A chest that sinks in or sticks out
  • Very flexible joints
  • Stretch marks that are not related to weight gain or loss
  • Vision problems
  • Back pain
  • Breathing problems

Diagnosis

The doctor will ask about your symptoms and health history. You may also be asked about your family's medical history. A physical exam will be done. An eye exam may also be done. Marfan syndrome is hard to diagnose.

Heart function may be tested. This can be done with an echocardiogram.

Images of the body may be taken. This can be done with:

Treatment

There is no cure. A person will need lifelong monitoring.

The goal of treatment is to manage symptoms. Choices are:

For the Heart and Blood Vessels

  • Avoiding high intensity exercise
  • Heart medicines, such as beta-blockers
  • Surgery to repair or replace a defective heart valve or aorta

For the Eyes

  • Eyeglasses or contact lenses to correct vision problems
  • Eye surgery for severe problems

For the Bones

Some people may need braces or surgery.

For the Back

Exercise and medicine may be needed to ease back pain.

For the Lungs

People with this health problem should avoid smoking. It can worsen breathing problems.

Prevention

There are no guidelines to prevent this health problem.

RESOURCES:

Family Doctor—American Academy of Family Physicians
http://familydoctor.org

National Marfan Foundation
http://www.marfan.org

CANADIAN RESOURCES:

Canadian Marfan Association
http://www.marfan.ca

College of Family Physicians of Canada
http://www.cfpc.ca

REFERENCES:

Marfan syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/marfan-syndrome. Accessed February 8, 2021.

Pepe G, Giusti B, et alS. Marfan syndrome: current perspectives. Appl Clin Genet. 2016 May 9;9:55-65.

What is Marfan syndrome? National Marfan Foundation website. Available at: http://www.marfan.org/about/marfan. Accessed February 8, 2021.

Last reviewed December 2020 by EBSCO Medical Review Board James P. Cornell, MD  Last Updated: 2/8/2021