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
This problem is caused by a faulty gene. It is inherited from a parent.
This problem is more common in people who have family members with Marfan syndrome.
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
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:
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
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