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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, especially the joints
  • Heart and the aorta, which is the artery that leads from the heart
  • Lungs
  • Eyes

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 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 depend on the parts of the body affected by Marfan syndrome:
  • Irregular heart rhythm
  • Visual difficulties, including nearsightedness and vision loss
  • Problems with bones, including loose joints, curved spine, and long limbs
  • Tall, thin body
  • Back pain
  • Breathing problems
Interior of Heart
Prolapsed mitral valve
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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 will 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
  • 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

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

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

CANADIAN RESOURCES

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 July 30, 2013.

Marfan syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated March 21, 2013. Accessed February 14, 2013.

Moura B, Tubach F, 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's Mouth Healthy website. Available at: http://www.mouthhealthy.org/en/az-topics/p/Premedication-or-Antibiotics.aspx. Accessed July 30, 2013.

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

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