Marfan Syndrome

Definition

Marfan syndrome is a rare connective tissue disorder that affects many organ systems, including the skeleton, lungs, eyes [2], heart [3], and blood vessels. Connective tissue holds body tissues together and provide support for many structures in the body. In Marfan syndrome, there is something wrong with the chemical make-up of the connective tissue. This can result in problems with the eyes [2], blood vessels, heart [3], spine, and lungs.

It is estimated that at least 1 in 5,000-10,000 people in the United States have the disorder.

Causes

Marfan syndrome is caused by a defect in the gene that controls a protein important for the development of connective tissue. In almost all cases, the defective gene is inherited. In very rare cases, the defect can be caused by a mutation during the formation of sperm or egg cells. The defective gene reduces production of a protein called fibrillin-1, whose absence allows excess action of a body growth substance called transforming growth factor-beta (TGF). Excess TGF leads to a number of the symptoms and complications of Marfan syndrome.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

Risk factors 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 [4] at the time of a child's birth

Symptoms

Symptoms of Marfan syndrome range from mild to severe and can affect one or many parts of the body. Some symptoms may be evident at an early age and 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 [3] valves and blood vessels—the two leaflets of the mitral valve may billow backwards when the heart [3] contracts ( mitral valve prolapse [5] ). This can lead to leakage of the mitral valve or irregular heart [3] rhythm.
Weakened or stretched aorta, the artery that leads from the heart [3].

Interior of Heart

Prolapsed mitral valve

Eyes

Dislocated eye [2] lenses
Myopia nearsightednesss), sometimes severe
Glaucoma [6]
Cataracts [7]
Detached retina [8]

Bones

Tall slender build
Loose joints [9]
Unusually long legs, arms, fingers, and toes
Crowded teeth [10]
Malformed breastbone
Curved spine
High, arched palate in the mouth
Risk for bone [9] thinning ( osteoporosis [11] ) in adult life

Back

Weakening of the supportive tissue of the spine with age
Back pain [12]

Lungs

Lung collapse (rare)

Diagnosis

Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. A doctor can diagnose Marfan syndrome by:

Observing the symptoms
Performing a complete physical exam
Carefully studying your medical [13] history and your family's medical [13] history
Performing tests such as:
- Echocardiogram [14] —a test that uses high-frequency sound waves to examine the size, shape, and motion of the heart [3]
- Complete eye [2] examination

If you have Marfan syndrome:

Your first-degree relatives (parents, brothers, and sisters) should be screened for the disorder.

Treatment

There is no cure for Marfan syndrome. Treatment is aimed at preventing or reducing complications or symptoms.

Treatment may include:

For the Heart and Blood Vessels

Regular monitoring of the heart [3] and aorta with check-ups or echocardiograms
Avoidance of strenuous exercise [15] or contact sports as directed by your doctor
Preventive antibiotics before medical [13] procedures or dental cleaning for patients with valvular or aortic problems
Heart medications such as beta-blockers. Studies in animals with a comparable defect in fibrillin-1 show that a blood pressure medication called Losartan can prevent the occurrence of aortic aneurysm [16] , the most serious risk in Marfan syndrome. Human studies will soon be underway to see if Losartan will be equally effective in reducing the risk of this unfortunately not uncommon complication.
Surgery to repair or replace a defective heart [3] valve or aorta

For the Eyes

Regular eye [2] examinations to check for eye [2] problems
Eyeglasses or contact lenses to correct myopia or problems with the eye [2] lens
Eye surgery for severe problems

For the Bones

Regular physical exams to monitor for bone [9] problems, especially during adolescence
Orthopedic brace or surgery in severe cases

For the Back

Exercises or medication to relieve pain [12] 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 your child inheriting Marfan's syndrome should you decide to have children.

RESOURCES:

American Academy of Family Physicians
http://www.aafp.org [17]

The National Marfan Foundation
http://www.marfan.org [18]

CANADIAN RESOURCES:

Canadian Family Physician
http://www.cfpc.ca/cfp/ [19]

The Canadian Marfan Association
http://www.marfan.ca [20]

References:

American Heart Association website. Available at: http://www.americanheart.org/presenter.jhtml?identifier=1200000 [21] .

Mayo Foundation for Medical Education and Research website. Available at: http://www.mayo.edu [22] .

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/ [23] .

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

Last reviewed October 2007 by Mark A. Best, MD, MPH, MBA, FCAP, FASCP [24]

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 [13] 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 [25] provider prior to starting any new treatment or with any questions you may have regarding a medical [13] condition.