I kinda have Marfans?

[Heartlove]

Is it possible to have a MILD case of Marfans?  My cousin on my dads side has it bad! Me, my dad, my twin sister and older brother all have heart murmurs, we are all tall, slim, long fingers,  with longer armspand than height.  My sister and I are nearsighted, progressively worse each year.  We have crowded teeth with highish palates.  I'm 5'9" 115lbs.  We have yearly echos, my brothers valve leaks slightly and so far mine has been good.  I have constant shortness of breath and chest pains.  When I went to a specialist for a Marfan's check, he said maybe I have a little Marfans? A mild case...Is this possible. Dont you have it or not?  feels like i pull chest muscles frequently.  Do you think I have Marfans or it could be getting worse. (Today I've had chest pains for 9+ hours behind my left breast.  It's kinda scary this time, but i get it alot so didnt go to hospital yet.

[Lisa Kessler, MS, CGC]

It is very important to call your doctor or go the emergency room for your chest pain.  It sounds like you know a great deal about Marfan syndrome.  If you have not done so, it is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition.   A medical geneticist would be the appropriate type of physician to perform a complete exam.  As you know, Marfan syndrome is a connective tissue disorder that affects many parts of the body including the eyes, skeleton, heart, and blood vessels.  Marfan syndrome is variable, meaning that some members of the family can be more mildly affected than others.  There are diagnostic criteria that should be met in order to be diagnosed with Marfan syndrome.   You can find a medical geneticist through the American College of Medical Genetics (ACMG).  As part of the work-up, an ophthalmologist performs a slit-lamp examination, looking for lens dislocation.  You mentioned that you have yearly echocardiograms.  In addition to monitoring the valves, the echo should measure the aorta.  You may want to request a copy of your echo report to see if your aorta was measured.  It is important to have regular echocardiograms because people with Marfan syndrome are at increased risk for aortic dissection, which is a tear in the aorta.    

Marfan syndrome runs in families in an autosomal dominant manner.  This means that someone with Marfan syndrome has 50% chance of passing this condition on to each child he or she has.  Inheritance is not affected by gender.