St. Luke's Hospital
Located in Chesterfield, MO
Main Number: 314-434-1500
Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia


    Marfan syndrome

    Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures.

    Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.


    Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block forconnective tissue in the body.

    The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.

    Other areas of the body that are affected include:

    • Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
    • The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
    • The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
    • The skin
    • Tissue covering the spinal cord

    In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of patientshave no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.


    People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- called arachnodactyly. When they stretch out their arms, the length of their arms is greater than their height.

    Other symptoms include:

    • A chest that sinks in or sticks out -- funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
    • Flat feet
    • Highly arched palate and crowded teeth
    • Hypotonia
    • Joints that are too flexible (but the elbows may be less flexible)
    • Learning disability
    • Movement of the lens of the eye from its normal position (dislocation)
    • Nearsightedness
    • Small lower jaw (micrognathia)
    • Spine that curves to one side (scoliosis)
    • Thin, narrow face

    Exams and Tests

    The doctor will perform a physical exam. There may be hypermobile joints and signs of:

    • Aneurysm
    • Collapsed lung
    • Heart valve problems

    An eye exam may show:

    • Defects of the lens or cornea
    • Retinal detachment
    • Vision problems

    The following tests may be performed:

    • Echocardiogram
    • Fibrillin-1 mutation testing (in some people)

    An echocardiogram should be done every year to look at the base of the aorta.


    Vision problems should be treated when possible.

    Monitor for scoliosis, especially during the teenage years.

    Medicine to slow the heart rate may help prevent stress on the aorta. Avoid participating in contact sports to avoid injuring the aorta of the heart. Some people may need surgery to replace the aortic root and valve.

    People with Marfan syndrome who have heart valve conditions should take antibiotics before dental procedures to prevent endocarditis. Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.

    Support Groups

    National Marfan Foundation --

    Outlook (Prognosis)

    Heart-related complications may shorten the lifespan of people with this disease. However, many patients survive well into their 60s. Good care and surgery may extend the lifespan further.

    Possible Complications

    Complications may include:

    • Aortic regurgitation
    • Aortic rupture
    • Bacterial endocarditis
    • Dissecting aortic aneurysm
    • Enlargement of the base of the aorta
    • Heart failure
    • Mitral valve prolapse
    • Scoliosis
    • Vision problems

    When to Contact a Medical Professional

    Experts recommend genetic counseling for couples with a history of this syndrome who wish to have children.


    Spontaneous new gene mutations leading to Marfan (less than 1/3 of cases) cannot be prevented. If you have Marfan syndrome, see your doctor at least once every year.


    Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 268.

    Doyle J, Dietz III H. Marfan syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 693.


    • Pectus excavatum


    • Marfan's syndrome


      • Pectus excavatum


      • Marfan's syndrome


      A Closer Look

        Self Care

          Tests for Marfan syndrome

            Review Date: 4/30/2012

            Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

            A.D.A.M. content is best viewed in IE9 or above, Fire Fox and chrome browser.

            Back  |  Top
            About Us
            Contact Us
            Locations & Directions
            Quality Reports
            Annual Reports
            Honors & Awards
            Community Health Needs

            Brain & Spine
            Sleep Medicine
            Urgent Care
            Women's Services
            All Services
            Patients & Visitors
            Locations & Directions
            Find a Physician
            Tour St. Luke's
            Patient & Visitor Information
            Contact Us
            Payment Options
            Financial Assistance
            Send a Card
            Mammogram Appointments
            Health Tools
            My Personal Health
            Spirit of Women
            Health Information & Tools
            Clinical Trials
            Employer Programs -
            Passport to Wellness

            Classes & Events
            Classes & Events
            Spirit of Women
            Donate & Volunteer
            Giving Opportunities
            Physicians & Employees
            For Physicians
            Remote Access
            Medical Residency Information
            Pharmacy Residency Information
            Physician CPOE Training
            St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
            Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Notice of Privacy Practices PDF  |  Patient Rights PDF Sitemap St. Luke's Mobile