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Marfan Syndrome:
Your Questions Answered
WHAT IS MARFAN SYNDROME?
HOW IS MARFAN SYNDROME DIAGNOSED?
Marfan syndrome is an inherited or genetic disorder of connective tissues that can affect the heart,
blood vessels, lungs, eyes, bones and ligaments.
Connective tissue is the material that holds the tissues of the body together. Marfan syndrome is one
of the most common connective tissue disorders,
affecting approximately one in 5,000 Americans.
It is important that you find a doctor who is
knowledgeable about Marfan syndrome. You
might consider meeting with a clinical geneticist (jin-NEH-ti-sist), a doctor who specializes
in inherited diseases, or a rheumatologist
(ROO-ma-tall-o-jist), a doctor who specializes
in arthritis and related diseases. The National
Marfan Foundation or the March of Dimes can
refer you to a medical geneticist.
Diagnosis of Marfan syndrome is based on a
complete physical examination that focuses on
the heart, eyes and musculoskeletal system.
WHAT CAUSES MARFAN SYNDROME?
Marfan syndrome is caused by a single abnormal gene. Marfan syndrome is an autosomal dominant (aw-toe-SO-mal DOM-ih-nant) disorder,
meaning that you only need one gene to have the
disease and that each child of an affected individual has a 50 percent chance of having the condition. Approximately 25 percent of Marfan syndrome cases occur spontaneously with no previous
family history of anyone having the disorder.
WHAT ARE THE SYMPTOMS AND
TREATMENTS OF MARFAN SYNDROME?
Marfan syndrome can cause one or more of
the following symptoms:
© 2003. Arthritis Foundation, Inc., Atlanta, GA. All rights reserved. For individual use only. Material in this
publication may not be reprinted without permission. Send requests for reprint permissions in writing to
1330 W. Peachtree St., Suite 100, Atlanta, GA 30309. For more information about arthritis, call 800/283-7800.
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P R A C T I C A L H E L P F R O M T H E A R T H R I T I S F O U N D AT I O N
Heart Problems
In people with Marfan syndrome, the aorta
(the main blood vessel that carries blood away
from the heart) can become enlarged and weaken. This is called an aortic aneurysm (a-OR-tik
an-yer-IZ-em). The lining of the aorta can
split, and in rare cases blood can leak into the
chest. In addition, the weakened aorta can lead
to problems with the valves of the heart called
aortic insufficiency or mitral valve prolapse.
Heart problems may not produce any obvious
symptoms, so people with Marfan syndrome
should have regular checkups to detect possible
complications. Regular echocardiograms (a special examination of the heart made by sound
waves) can help detect heart or aortic problems.
Medications called beta blockers are prescribed to reduce strain on the aorta and heart
valves. Beta blockers lower high blood pressure
and decrease the force of heartbeats. Some people may require surgery if the aorta quickly
increases in size or reaches a dangerous size.
Occasionally the retina (light-sensitive tissue at
the back of the eye) may become detached, causing
sudden vision loss that requires surgery. You should
have regular eye exams by an eye specialist called
an ophthalmologist (opf-THAL-mall-o-jist).
Spine Problems
Children with Marfan syndrome should be
checked regularly for scoliosis (sko-lee-O-sis)
Scoliosis is a curvature of the spine. Children
with scoliosis should see a doctor who specializes
in bone disorders, called an orthopaedist (ortho-PEE-dist). They may prescribe a removable
brace to stabilize the spine. Physical therapy also
may be recommended. Surgery may be necessary
if curvature increases.
Breast Bone Problems
In some people, the chest may become indented and put pressure on the heart and lungs.
In rare cases, surgery may be necessary to
relieve the pressure and prevent organ damage.
Tall Stature
Joint Pain
People with Marfan syndrome are often unusually tall and slender, with particularly long
arms, legs and fingers in comparison to the rest
of their bodies. Tall stature in itself is not a serious medical concern, but it can present adjustment problems for children because they are
taller than most other children their age.
Some people with Marfan syndrome experience joint pain, which is frequently associated
with loose-jointedness (joints that bend more
than normal). Joint pain can be treated with
medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and exercise, such as walking and water exercise. Examples of NSAIDs
include aspirin, ibuprofen and naproxen.
Eye Problems
Nearsightedness is common in people with
Marfan syndrome. It can be corrected with prescription glasses or contact lenses. People with
Marfan syndrome also may have problems with
the lens of their eye (behind the pupil of the
eye). The lens can become torn from supporting
tissues, resulting in vision problems.
THE ARTHRITIS FOUNDATION
The mission of the Arthritis Foundation is to
improve lives through leadership in the prevention,
control and cure of arthritis and related diseases.
The Arthritis Foundation supports research
with the greatest potential for advances and has
invested more than $320 million in these efforts
© 2003. Arthritis Foundation, Inc., Atlanta, GA. All rights reserved. For individual use only. Material in this
publication may not be reprinted without permission. Send requests for reprint permissions in writing to
1330 W. Peachtree St., Suite 100, Atlanta, GA 30309. For more information about arthritis, call 800/283-7800.
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P R A C T I C A L H E L P F R O M T H E A R T H R I T I S F O U N D AT I O N
since its inception in 1948. Additionally, the
Arthritis Foundation supports key public policy
and advocacy efforts at a local and national level
in order to make a difference on behalf of 70
million people living with arthritis.
As your partner in taking greater control of
arthritis, the Arthritis Foundation also offers a
large number of programs and services nationwide to make life with arthritis easier and less
painful and to help you become an active partner in your own health care.
Contact us at (800) 283-7800 or visit us on
the Web at www.arthritis.org to become an
Arthritis Advocate or to find out how you can
become involved.
The Arthritis Foundation acknowledges with appreciation Carlo Mainardi, MD, MBA, Newark Beth
Israel Medical Center, Newark, NJ; and Laura
Robbins, DSW, Hospital for Special Surgery, New
York, for their assistance with this booklet.
For more information: The Arthritis Foundation offers a wide variety of books, brochures and videos about different forms of arthritis, treatment and self-management techniques to help you take control of your arthritis.
To order any of these products, become an Arthritis Foundation member or to subscribe to the Arthritis
Foundation's award-winning consumer health magazine, Arthritis Today, call (800) 283-7800. Call or visit our
Web site (www.arthritis.org) to find out how you can take control of your arthritis and start living better today!
This brochure has been reviewed by the
AMERICAN COLLEGE OF RHEUMATOLOGY.
MISSION STATEMENT:
The mission of the Arthritis Foundation
is to improve lives through leadership
in the prevention, control and cure
of arthritis and related diseases.
© 2003. Arthritis Foundation, Inc., Atlanta, GA. All rights reserved. For individual use only. Material in this
publication may not be reprinted without permission. Send requests for reprint permissions in writing to
1330 W. Peachtree St., Suite 100, Atlanta, GA 30309. For more information about arthritis, call 800/283-7800.
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