Aa
Aa
A
A
A
Close
Avatar universal

Aortic Dilation - Mitral alve Prolapse - maybe 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
2 Responses
Sort by: Helpful Oldest Newest
Avatar universal
Thanks for your reply and I agree I think something is going on but what I do not know?  

I worte to my Cardiologist and she has replied with a quite suprising response - there is no suspicion of Marfans and that there actually was no suggestion of Mitral Valve Prolapse but the Mitral Valve was Mild to Minimally regurgitant, which is a normal Echo finding.

I have since replied to her on the 39mm sinus measurements and asked for an explanation as to why it may be this size or is it normal in comparison to the rest of the heart (I think she did mention previously that my heart was quite big but in normal and very healthy condition - wall thickness, ejection fraction etc), if there should be any consideration for medication (I mentioned ARB's) and finally if there was any need to expidite Echo testing and retesting.

The only thing that does strike me as a possiblity is that I have had a very stressfull time of life on all fronts but particularly the stress and pressures of my job in the last 7-8 years - and this, coupled with quite regular endurance and strength training over two decades may have some link to the fact that the heart is large (I do show ECG readings for Hypetrophy but have been cleared of this an HCM - I think Athlete's Heart sometimes presents this way on ECG) and why the Aortis Root is large - I have read some litterature on this phenomenon and hopefully it is correct and I am stable!!

All my other Aortic measurements are fine and normal - Ascending and Arch, Sinutabular Junction, etc  so ... see where all this goes?

BTW - are you a medical professional?

T1975

Helpful - 0
Avatar universal
Very interesting.  You are an average sized guy, but your sinuses come in at 3.9cm.  Well, I think your root is certainly enlarged.  3.9cm is rarely truly normal for anyone, although in rare instances it could be.  What's most interesting is the possibility of a connective tissue disease -- but you don't have a significant number of clear signs for MFS or LDS etc.

I would find a Marfan specialist and be watched with multiple, regular echocardiograms over time to make sure the aorta is not enlarging further.  Perhaps moderate the exercise a bit until you know you are stable.  And consider angiotensin receptor blockers like telmisartan or valsartan (high doses necessary) to stabilize or reverse the dilatation.  Read my old posts or use Google to learn about this.  There's research out of Johns Hopkins on it (dr Dietz).

Helpful - 0
Have an Answer?

You are reading content posted in the Heart Disease Community

Top Heart Disease Answerers
159619 tn?1707018272
Salt Lake City, UT
11548417 tn?1506080564
Netherlands
Learn About Top Answerers
Didn't find the answer you were looking for?
Ask a question
Popular Resources
Is a low-fat diet really that heart healthy after all? James D. Nicolantonio, PharmD, urges us to reconsider decades-long dietary guidelines.
Can depression and anxiety cause heart disease? Get the facts in this Missouri Medicine report.
Fish oil, folic acid, vitamin C. Find out if these supplements are heart-healthy or overhyped.
Learn what happens before, during and after a heart attack occurs.
What are the pros and cons of taking fish oil for heart health? Find out in this article from Missouri Medicine.
How to lower your heart attack risk.