Hi, I am a 24yo male, 6ft and 12st5lb. I am concerned that I may have Marfan disease and that my mother does as well. Below are the reasons for my concern. My doctor has said he is not concerned that this is marfan's as I am not tall enough and don't have enough features.
My features are
long limbs and spidery fingers
arm span 1.025 that of height
US:LS ratio 0.86
high arched palate with slight crowding
stretch marks after puberty
have hypermobility in knee and thumb joints
positive wrist sign but not thumb sign
early puberty and reached maximum height at 14, I was also always a head taller than class mates through school until the later years
TMJ problems ie pain and clicking
multiple clicking and popping joints
clawed 2nd toes
My mother shares the same features and has suffered from frozen shoulder.
I must add that my vision is near perfect with the exception of a few floaters, as is my mothers.
I had an echocardiogram to check the chambers and valves a while back due to strange heart beats which turned out to be PVCs, the echo was fine but would the aortic root have been imaged on a standard echo of chambers and valves?
Really I am just looking for validation of my doctors claims that it is unlikely I have marfans based on my symptoms and family history which I must add has never had anyone die of heart disease?
It sounds like you have done a great deal of research about Marfan syndrome. 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. You can find a medical geneticist through the American College of Medical Genetics (ACMG). As part of the work-up, an opthalmalogist performs a slit-lamp examination, looking for lens dislocation. You mentioned that you had an echocardiogram that was normal. You may want to request a copy of that report to see if your aorta was measured. If not, then an echocardiogram with a measurement of the aorta is typically ordered as part of the evaluation for Marfan syndrome.
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.
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