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Marfan Syndrome

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Marfan Syndrome

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 (the artery that leads from the heart)
  • Lungs
  • Eyes

Treatment can help manage the condition.

Interior of Heart.

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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 symptoms and past and family health. 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. Options are:

Prevention

There are no guidelines to prevent Marfan syndrome.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Bitterman AD, Sponseller PD. Marfan Syndrome: A Clinical Update. J Am Acad Orthop Surg. 2017;25(9):603-609.
  • Marfan syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/marfan-syndrome.
  • What is Marfan syndrome? National Marfan Foundation website. Available at: https://marfan.org/conditions/marfan-syndrome.

Contributors

  • Mark D. Arredondo, MD
Last Updated:
2022-08-01

(C) Copyright 2023 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.