Marfan Syndrome.
Last updated Thursday, December 23, 2004
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Symptoms
Symptoms
Symptoms of Marfan syndrome may include one or more of the following:
- Excessive height
- Particularly long arms and legs with long slender fingers and toes
- Nearsightedness (myopia)
- Indented or protruding breast bone
- Curvature of the spine (scoliosis)
- Mild to severe heart problems
Height
People affected by Marfan syndrome are most often unusually tall and
slender, with particularly long arms, legs, and fingers in comparison
to the rest of their body. Excessive height in itself is not a serious
medical concern, but may present adjustment problems for children and
adolescents, because they are taller than most other children their
age. Care must be taken to help children cope with being teased or
singled out because of their height. In addition, because they are
taller than children their own age, they appear older and may be
expected to behave more maturely. Teachers and parents need to be
cautioned against expecting more from these children than is normal for
their age.
Eye problems
Children with Marfan syndrome should have regular eye exams
beginning at an early age. Nearsightedness (myopia) is a common
condition. It can be corrected with prescription glasses or contact
lenses. Many children experience problems with the lens of the eye (the
focusing structure located just behind the pupil of the eye and held in
place by ligaments). The lens can become torn from its supports and
become "dislocated." This can cause vision problems that are mild or
severe enough to interfere with progress in school. In rare instances,
the lens may need to be removed surgically.
On rare occasions, a child may suffer a detachment of the retina
(the light sensitive tissue located at the back of the eye). This
causes a sudden loss of vision and requires emergency surgery. Because
of this tendency to develop eye problems, it is necessary for children
to have regular eye exams with an ophthalmologist (eye specialist) to
detect and treat these conditions.
People with Marfan syndrome should also protect their eyes from
injury during work and sports. Football, racquetball, squash, boxing,
diving, and other activities that may involve blows to the head or face
should be avoided.
Spine problems
A child with Marfan syndrome should be checked regularly for
curvature of the spine (scoliosis). Children with scoliosis should be
referred to an orthopedist (specialist in bone disorders) who may
prescribe a removable brace to stabilize the spine. In some cases, if
the curve worsens, in spite of bracing, surgery may be recommended.
This type of surgery will prevent progression and may even help the
spine return to its normal shape.
Breast bone problems
Surgery is occasionally recommended to correct an indented chest if
it presses severely on the heart or lungs. Some people without
significant heart or lung problems may elect to have corrective chest
surgery for purely cosmetic reasons.
Heart problems
Heart problems can occur because Marfan syndrome may cause leakage
of the mitral or aortic heart valves. These valves control the flow of
blood through the heart. Defects of the mitral valve may cause
shortness of breath, an irregular pulse, and undue tiredness. Defects
of the aortic valve can lead to serious heart failure. In addition, the
main artery in the body, the aorta, can become dangerously weakened and
rupture. Rupture of the aorta has been a cause of sudden death in some
people with unsuspected Marfan syndrome. Keep in mind, however, that
serious complications resulting from these conditions can be prevented
by early diagnosis and proper treatment.
Because these heart conditions may not produce any obvious symptoms,
people with Marfan syndrome must have regular checkups by a
cardiologist (heart specialist) to monitor the effects of treatment and
to detect possible complications. Medications are often prescribed to
reduce the strain on the heart valves and the aorta. Some individuals
may require surgery to replace the worn or weakened valves or the
weakened part of the aorta. This is major surgery, but is generally
very successful and often life-saving.
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