Hi! Brand new to the forum and I have a question that I have not been able to accurately answer in doing numerous google searches. First a little background. I am a 41 year old female and am currently being evaluated for Marfan's. I have seen both an orthopedist and a rheumatologist and have now been referred to a geneticist. My appointment is this Friday afternoon, October 5th. I have positive wrist and thumb signs, scoliosis, myopia (at least prior to LASIK 12 years ago), stretch marks, hypermobile joints, long skinny fingers, small wrists (hence the thumb/wrist signs) long, thin arms where the span exceeds my height (I am 5 foot 7), early osteoarthritis, easy bruising, hypo extended elbows (I think!), long legs (reduced upper to lower segment), etc. I was also told in my early 20's that I had Mitral Valve Prolapse, which was later confirmed on an echo at age 29. However, I have recently had a 2nd echo that said that I do NOT have MVP. Interestingly, the first echo measured my aortic root at 3.3 cm and the more recent one says it is just 2.9 cm. BTW, I have recently seen an opthamologist and no sign of ectopic lensis....yet!
But, my 45 year old older brother (who is 6 foot 7 and 285 lbs dieting!) has an aortic root dimension of 5.1 cm, via echo. Herein lies my question. He has been monitored for the last several years and repeatedly told that his aorta is dilated but that it is normal due to his large size. Of course, all of his echos and CT scans have been prior to the latest development of possible Marfans in the family. I am trying to determine whether 5.1 cm can be normal for someone of his size. Our 74 year old father is 6 foot 5.5 and recently had an echo of his heart. His aortic root is 2.55 cm (smaller than mine!) but his ascending aorta is considered slightly dilated at 3.6 cm. He has had a detached retina, cataracts and also has severe myopia. It seems to me like if a larger man equals a larger aorta then my father should also have a root measurement in the 4 to 5 cm range. He is not THAT much smaller than my brother (maybe weighs 240 ish). Of course I will ask the geneticist about all of this on Friday but wanted to get other opinions first.
My question is really two fold:
1) Do you think it is likely that myself and my family have Marfan's? And,
2) Can a 5.1 cm aorta (via echo) be considered normal on a larger sized individual? I am trying to determine if my brother actually has a potentially dangerous situation or not.
It seems like everything I read says that 5.0 cm is the threshold for performing surgery and I never see a footnote that says, "unless you are a large individual". Further, since Marfan males are generally over 6 feet, shouldn't a larger aorta diameter be expected anyway? Yet, everything I have read says that 5 cm is the cutoff for taking action. What is more important really? The indexed size or actual aorta measurement?
Any thoughts would be appreciated as I try to sort all of this information out. Thanks in advance!