by Cynthia M. Johnson, MA
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:
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:
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:
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
For the Eyes
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.
There are no guidelines to prevent this health problem.
Family Doctor—American Academy of Family Physicians
National Marfan Foundation
Canadian Marfan Association
College of Family Physicians of Canada
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:
...(Click grey area to select URL)
Accessed February 8, 2021.
Last reviewed December 2020 by EBSCO Medical Review Board James P. Cornell, MD
Last Updated: 2/8/2021
EBSCO Information Services is fully accredited by URAC. URAC is an independent, nonprofit health care accrediting organization dedicated to promoting health care quality through accreditation, certification and commendation.
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.
To send comments or feedback to our Editorial Team regarding the content please email us at firstname.lastname@example.org. Our Health Library Support team will respond to your email request within 2 business days.