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Marfan Syndrome

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Condition Detail

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
- Mitral valve prolapse —can lead to leakage of the mitral valve
- Irregular heart rhythm
Weakened or stretched aorta— Can lead to aortic aneurysm

Interior of Heart

Eyes

Dislocated eye lenses
Nearsightedness—sometimes severe
Glaucoma
Cataracts
Detached retina

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

Reviewer: Michael Woods, MD
Review Date: 03/2013 -
Update Date: 00/31/2013 -

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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