The newsgroup for people affected with or concerned by the Marfan
syndrome: alt.support.marfan
Visit the National Marfan Foundation Web site at:
http://www.marfan.org/
E-mail the NMF staff at: st…@marfan.org
The National Marfan Foundation is located at 382 Main Street,
Port Washington, NY 11050. Telephone: 1-800-8-MARFAN
An informative booklet on the Marfan syndrome is available
upon request. Become a member of the NMF and recieve the
quarterly, "Connective Issues".
Marfan syndrome is a heritable disorder of the connective tissue
which can affect the following body systems:
1. The skeletal system: An affected individual will often
be tall, slender, and somewhat loose-jointed or limber.
The arms, legs, fingers and toes may be disproportionately
long when compared to the trunk; the face may appear long and
narrow in keeping with the general body shape. Scoliosis may
be present. A protruding or indented breastbone (pectus
carinatum or excavatum) may also be present.
2. The eyes: The lens of the eye is off-center or dislocated
(ectopia lentis) in about 50% of people with Marfan. Detection
is possible only through fully enlarging (dilating) the pupils
with eye drops. A slit lamp then must be used for examination.
Dislocation of the lens occurs in relatively few other conditions,
and is, therefore, an important hallmark of Marfan syndrome when
present.
3. The lungs: Pneumothroax, or spontaneous collapse of a lung.
4. The heart and blood vessels: Mitral valve prolaspe occurs in 75-
85% of people with the syndrome. However, m.v.p occurs in 5% of
general population, and is not in and of itself diagnostic of
Marfan. Mitral valve regurgitation can occur. As well dilation
of the aorta (widening often referred to as an aneurysm) can result
in a dissection or rupturing of the aorta. A dilation or a
dissection for that matter can only be detected through the use
of an echocardiogram or MRI.
It must be stressed that all of the preceding symptoms need not be present
in order for a person to be diagnosed with the Marfan syndrome. A
variety exists in manifestation. As well, it can not be assumed by sight
that since a person appears healthy, he or she is unaffected. Cases in
point are the NBA players as well as Flo Hyman, the Olympic volleyball
player who all succumbed to the syndrome mid sports career.
Mutations or spontaneous occurances can occur in the syndrome.
There is a 50-50 chance that the offspring of a person affected will
also be affected. The syndrome does not skip generations.
There is hope once diagnosed. Follow-up monitoring (usually done annually
unless otherwise needed); treatment with beta blockers (to ease pressure
on the heart); and if necessary, surgery to repair valve or aortic dilation
(done with great success and improving yearly) all offer positive results.
The essential nature of diagnosis should be evident. No specific lab
test exists at this time. It is important therefore to be seen by
physicians and subsequently echo and MRI technicians knowledgable
with the Marfan syndrome.
Best wishes,
Angela