Newsgroups: comp.ai.genetic
Path: cantaloupe.srv.cs.cmu.edu!bb3.andrew.cmu.edu!nntp.sei.cmu.edu!cis.ohio-state.edu!math.ohio-state.edu!howland.reston.ans.net!news.sprintlink.net!metro.atlanta.com!spcuna!spcunb.spc.edu!hebert_a
From: hebert_a@spcunb.spc.edu (Angela M. Hebert)
Subject: Re: Marfan Syndrome: alt.support.marfan
Nntp-Posting-Host: spcunb.spc.edu
Sender: news@spcuna.spc.edu (Network News)
Organization: St. Peter's College, US
Date: Mon, 11 Sep 1995 22:03:21 GMT
X-Newsreader: TIN [version 1.2 PL2]
Message-ID: <DErH9L.Lsy@spcuna.spc.edu>
Lines: 64

 

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.  Followup 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.

For more information on the syndrome, as well as the names of competent
physicians in your area call the National Marfan Foundation at:
                1-800-8-MARFAN

Visit the newsgroup for people affected by or concerned with Marfan:
              alt.support.marfan

And the NMF Web site:
              http://www.panix.com/"rstoller/nmf/

Best wishes,

Angela

