Marfan Syndrome
What Is It?
Marfan syndrome is a genetic (inherited) disorder that affects the body's connective tissue. Connective tissue is the tough, fibrous, elastic tissue that connects one part of the body with another. It is a major part of tendons, ligaments, bones, cartilage and the walls of large blood vessels. In Marfan syndrome, the body can't produce normal fibrillin, an important building block of connective tissue. Â
The problem in Marfan syndrome is caused by a mutation (change) in a gene. Genes are segments of DNA that direct the body to produce proteins. In many families with inherited Marfan syndrome, the mutation affects the FBN1 gene on chromosome 15, although other gene mutations may be involved in some cases.Â
To continue reading this article, you must log in.
Subscribe to Harvard Health Online for immediate access to health news and information from Harvard Medical School.
- Research health conditions
- Check your symptoms
- Prepare for a doctor's visit or test
- Find the best treatments and procedures for you
- Explore options for better nutrition and exercise
I'd like to receive access to Harvard Health Online for only $4.99 a month.
Sign Me UpAlready a member? Login ».
Disclaimer:
As a service to our readers, Harvard Health Publishing provides access to our library of archived content. Please note the date of last review or update on all articles.
No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.
