Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. This tissue is common throughout the body. It holds the body together and supports many of its structures. As a result Marfan syndrome affects many organ systems, including:
- Skeleton—particularly joints
- Heart and blood vessels
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.
Factors that increase your risk of Marfan Syndrome include:
- Family members with Marfan syndrome (the child of a person with Marfan syndrome has a 50% chance of inheriting the condition)
- Advanced age of parents at the time of a child's birth
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 or irregular heart rhythm.
Weakened or stretched aorta, the artery that leads from the heart
- Can lead to ]]>aortic aneurysm]]>
Interior of Heart
- 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 ( ]]>osteoporosis]]> ) in adult life
- Weakening of the supportive tissue of the spine with age
- Back pain
- Lung collapse (rare)
Marfan syndrome is difficult to diagnose. There is no specific test for the condition. A doctor can diagnose Marfan syndrome by:
- Observing the symptoms
- Performing a complete physical exam
- Carefully studying your medical history and your family's medical history
Performing tests such as:
- Echocardiogram]]> —a test that uses high-frequency sound waves to examine the size, shape, and motion of the heart
- Complete eye examination
- Your first-degree relatives (parents, brothers, and sisters) should be screened for the disorder
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
- Avoidance of strenuous exercise or contact sports as directed by your doctor
- Preventive antibiotics before medical procedures or dental cleaning for patients with valvular or aortic problems
Heart medications such as beta-blockers
- Losartan]]> is currently being investigated in aortic aneurysm prevention
- Particularly close monitoring of pregnant women with Marfan syndrome
- Surgery to repair or replace a defective heart valve or aorta
For the Eyes
- Regular eye examinations 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
- Exercises or medication to relieve pain caused by spinal weakness
For the Lungs
- Avoid smoking
American Academy of Family Physicians
The National Marfan Foundation
Canadian Family Physician
The Canadian Marfan Association
American Heart Association website. Available at: http://www.americanheart.org/presenter.jhtml?identifier=1200000 .
Mayo Foundation for Medical Education and Research website. Available at: http://www.mayo.edu .
The Merck Manual of Medical Information . 17th ed. Simon and Schuster, Inc.; 2000.
Moura B, Tubach F, Sulpice M, Boileau C, Jondeau G, Muti C, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study. Joint Bone Spine . 2006 Sep 14
National Institute of Arthritis and Musculoskeletal and Skin Disorders website. Available at: http://www.niams.nih.gov/ .
Travis J. Medicine. Old drug, new hope for Marfan syndrome. Science . 2006 Apr 7;312(5770):36-7.
Last reviewed January 2009 by ]]>Rosalyn Carson-DeWitt, MD]]>
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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