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Have I possibly got Marfans?
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Have I possibly got Marfans?

Hi, thanks for providing this excellent service - it's websites and groups like yours that make illness tolerable!

6 months ago I was diagnosed with Mitral Valve Prolapse with Mild to Minimal Regurgitation (my Cardiologist said that this is within a normal Echo finding) and I also suffer from Keratoconus (I am long sighted and am pretty sure I don't have ectopia lentis). I have been reading a lot on these conditions over this time and am a little concerned at the connections between the two and Marfans Syndrome.

Now at this point I should say that my Aortic Root/Sinus measurement on my Echo was (again as my Cardiologist put it) at the upper level of normal at 39mm. What is normal and what is not - so much conflicting and confusing literature?

I am a 36yo male, slim build at 178cm and 75kgs, I am pretty fit (train 5 days a week - jogging and basic sit ups, push ups etc) and always have been, and I did play soccer at a fairly high level between 16 - 23yo.  

However after recent readings I am now quite worried that I may well be a candidate for Marfans and from this I am obviously concerned about Aortic Root Dissection particularly when I am training?

A little bit more on me - My arm span is exactly the same as my height. I do have long arms and legs but then they do look proportionate to my my body length, no-one has ever commented about it looking odd. My eyes are slightly deepest but not hugely and look a little downward slanting but not obviously slopped. . I did have crowded teeth as a kid and my upper pallet is a little deep and narrow but nothing like some of the photo's I have seen and my GP said it wasn't Marfan like. My bottom jaw isn't big but not so small either. My joints aren't absolutely solid but they most certainly are not overly flexible (hyperextendable) nor double jointed. I do not meet the 'thumb and little finger around the wrist' criteria nor do I have flexible fingers and/or thumbs. My chest structure is not big but fairly normal (not concave or protruding - again, nothing like photographs I have seen). I have normal arched feet but the pes planus and hindfoot deformity are questionable at best but not absolutely obvious with issue.

I do get some very mild pain in my inner left arm and tingles/coldness in the fingers occasionally but these I have been assured by numerous doctors is nothing to be worried about. I do constantly have tinnitus. I do get a sore and stiff in the lower back from time to time in bouts but then it goes for a while then comes back - exercise seems to really relieve this.

My Cardiologist never mentioned Marfans to me but I was never aware of the Syndrome until well after the consultation and she didn't seem to be too bothered to check any other Ghent related criteria when she examined me.  My big fear is could she have missed this and/or not made the connection between my conditions?  The report my Cardiologist sent to my GP was pretty arbitrary in my opinion at best... she more or less said all I had was a floppy mitral valve and was under a lot of stress? errr, my Aortic Root at 39mm as well, hello does this not mean something more???

I do not have any family history to refer to on connective tissue or MFS, Loeys etc as I am adopted.

I guess I am looking for some responses here to give me some insight as to what I am going through - have I got to be paranoid - should I be in a surgery somewhere getting this all sorted out etc etc... I went to see my GP (yet again) today and as completely expected he said say I am over worrying and am possibly neurotic about my condition - drop the hypochondria and trust the Cardioogosts recommendations of another echo in TWO YEARS OR SO???!!! Everything I have read on Aortic Root measurements has said quite contrary to this and this Cardiologist is said to be a Specialist  and Honory Lecturer on Adult Congenital Heart Disease - worrying!?

Any help and advice would be most appreciated

Thanks once again.
T.
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3 Comments Post a Comment
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Avatar_f_tn
If this were my story, I would stop worrying about this. Marfans is a well known form of heart disease and the very first time your cardiologist took a look at you, if that were going to be an issue, she would have picked up on that possibility quite quickly.  The chances of her missing something like this would be pretty nil.
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Avatar_m_tn
thanks for the one and only comment and you are probably right but if IF you can shed any light on the fact of my Aortic Root being at 39mm at 36yo, 178cm and 75kgs I would be much much better for it... it just seems way to large to not be significant in the grand scheme of things? do you know anyone that could give me any education?
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Avatar_f_tn
Sorry to sya, I can't comment on this issue. However, have you considered asking about this on the "Expert Forum"? Over on that page (here on Medhelp) a medical doctor will answer your questions. On some of the forums, there is a small cost for that service, on others, not so be prepared. Take care
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