Marfan Syndrome

by Rick Alan

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    TOP

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    TOP

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    TOP

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    TOP

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    TOP

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.mouthhe... . Accessed February 14, 2013.
Travis J. Medicine. Old drug, new hope for Marfan syndrome. Science . 2006 Apr 7;312(5770):36-37.
Last reviewed March 2013 by Michael Woods, MD
Last Updated: 03/15/2013