11686 Health Library | Health and Wellness | Wellmont Health System
  • Marfan Syndrome

    Definition

    Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. Connective tissue supports and connects many of the body's structures. As a result, Marfan syndrome affects many organ systems, including:
    • Skeleton—particularly joints
    • Heart and the aorta, the artery that leads from the heart
    • Lungs
    • Eyes
    • Heart and blood vessels

    Causes

    Marfan syndrome is caused by a defect in a gene. The gene controls a protein needed to build connective tissue.
    In almost all cases, the defective gene is passed from a parent. In very rare cases, the defect can be caused by a mutation.

    Risk Factors

    Factors that increase your risk of Marfan Syndrome include:
    • Family members with Marfan syndrome
    • Increased age of parents at the time of a child's birth

    Symptoms

    Symptoms of Marfan syndrome range from mild to severe. It can affect one or many parts of the body. Some symptoms may be evident at an early age. Others may develop later in life. Some symptoms may worsen with age.
    Symptoms are listed according to parts of the body they affect:

    Heart and Blood Vessels

      Abnormalities of the heart valves and blood vessels
    • Weakened or stretched aorta— Can lead to aortic aneurysm
    Interior of Heart
    Prolapsed mitral valve
    Copyright © Nucleus Medical Media, Inc.

    Eyes

    Bones

    • Tall slender build
    • Loose joints
    • Unusually long legs, arms, fingers, and toes
    • Crowded teeth
    • Malformed breastbone
    • Curved spine
    • High, arched palate in the mouth
    • Risk for bone thinning in adult life

    Back

    • Weakening of the supportive tissue of the spine with age
    • Back pain

    Lungs

    Lung collapse, rarely

    Diagnosis

    Marfan syndrome is difficult to diagnose. There is no specific test for the condition. A physical exam will be done. It will study your medical history and your family's medical history. Other tests that may be done include the following:
    • You may need to have your heart examined. This can be done with an echocardiogram.
    • You may need to have a complete eye exam.
    If you have Marfan syndrome, your first-degree relatives, such as parents, brothers, and sisters, should be screened for the disorder.

    Treatment

    There is no cure. Treatment is aimed at preventing or reducing complications or symptoms.
    Treatment may include:

    For the Heart and Blood Vessels

      Regular monitoring of the heart and aorta with:
      • Regular check-ups
      • Echocardiograms
    • Avoiding strenuous exercise or contact sports as directed by your doctor
    • Heart medications such as beta-blockers— losartan is currently being investigated in aortic aneurysm prevention
    • Close monitoring of pregnant women with Marfan syndrome
    • Surgery to repair or replace a defective heart valve or aorta

    For the Eyes

    • Regular eye exams to check for eye problems
    • Eyeglasses or contact lenses to correct myopia or problems with the eye lens
    • Eye surgery for severe problems

    For the Bones

    • Regular physical exams to monitor for bone problems, especially during adolescence
    • Orthopedic brace or surgery in severe cases

    For the Back

    Your doctor may recommend exercises or medication to relieve pain caused by spinal weakness.

    For the Lungs

    Avoid smoking.

    Prevention

    There are no guidelines for preventing Marfan syndrome. You can contact a genetic counselor to determine the risk of passing the condition on to your child.

    RESOURCES

    American Academy of Family Physicians http://familydoctor.org

    The National Marfan Foundation http://www.marfan.org

    CANADIAN RESOURCES

    The College of Family Physicians of Canada http://www.cfpc.ca

    Canadian Marfan Association http://www.marfan.ca

    References

    About Marfan syndrome. National Marfan Foundation website. Available at: http://www.marfan.org/marfan/2280/About-Marfan-Syndrome. Accessed February 14, 2013.

    Marfan syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated January 2, 2013. Accessed February 14, 2013.

    Moura B, Tubach F, Sulpice M, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study. Joint Bone Spine . 2006 Sep 14

    Premedication (antibiotics). American Dental Association website. Available at: http://www.mouthhealthy.org/en/az-topics/p/Premedication-or-Antibiotics.aspx . Accessed February 14, 2013.

    Travis J. Medicine. Old drug, new hope for Marfan syndrome. Science . 2006 Apr 7;312(5770):36-37.

    Revision Information

  • Join WellZones today.

    Make a Change For LifeLearn more

    Wellmont LiveWell is creating a new tradition of wellness in the mountains by providing individuals with tools and encouragement to live healthier lifestyles.

  • HeartSHAPE Spotlight

    At risk for a heart attack? Learn more

    Fight heart disease early and prevent heart attacks with HeartSHAPE® - a painless, non-invasive test that takes pictures of your heart to scan for early-stage coronary disease.

  • Calories and Energy Needs

    Calorie NeedsLearn more

    How many calories do you need to eat each day to maintain your weight and fuel your physical activity? Enter a few of your stats into this calculator to find out.

  • Ideal Body Weight

    Ideal Body WeightLearn more

    Using body mass index as a reference, this calculator determines your ideal body weight range. All you need to do is enter your height.

  • Body Mass Index

    Body Mass IndexLearn more

    This tool considers your height and weight to assess your weight status.


  • Can we help answer your questions?

    Wellmont Nurse Connection is your resource for valuable health information any time, 24 hours a day, seven days a week. Speak to a Nurse any time, day or night, at (423) 723-6877 or toll-free at 1-877-230-NURSE.