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Aortic Index Question

Postby apbnash on Mon Oct 01, 2012 8:53 pm

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!

Amy
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Re: Aortic Index Question

Postby Marf on Thu Oct 04, 2012 7:04 pm

Hopefully others may be able to chime in here and offer you some good answers, but I would like to add that I've always read and heard that 5.5 cms seems to be the general threshold for surgical intervertion. I've often heard that many surgeons may operate a little earlier on people with known histories of vascular problems and connective tissue disease at around 5.0 cms. It's just generally speaking.

Your writings suggest the possibility of familial marfans.
I used to be sorry I had no shoes, until I seen a man with no feet.
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Re: Aortic Index Question

Postby apbnash on Thu Oct 04, 2012 10:25 pm

Thanks Marf for your reply! Tomorrow is the appt with genetics so I suppose I shall soon know more. I did get both my brothers' echo and MRA report and the echo said the aorta was 4.6 cm and the MRA said 5.1 cm, with significant regurgitation. He is on medication to keep his blood pressure low but I think he only has tests every 12 months or so and his doctors don't seem overly concerned. I am a little surprised they have never looked into the possibility of Marfans, with his extreme height and all. Of course all the reports act as if the size of his root is perfectly normal when indexed for his body surface area. But, I dunno. Will hopefully know more tomorrow afternoon. Thanks again for the reply!
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Re: Aortic Index Question

Postby Marf on Sat Oct 06, 2012 10:37 pm

Here is a link that may help you and others with similar questions.

http://mpoullis.net/aodvd1/when/blank.htm#Aortic root
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Re: Aortic Index Question

Postby apbnash on Sun Oct 07, 2012 12:20 am

Thanks so much for that link Marf!

Our appointment was yesterday and was very long and complex. First, we met with a genetic counselor who asked lots of questions about family history. Then, the doctor came in and talked with us awhile about his concerns, especially for my brother's MRA results showing a 5.1 cm root with significant regurgitation. He does not feel that there are enough people his size with echo results for the index scoring method to be reliable. He initially wanted to take my brother's blood first but since he was not at the appt (and I was not sure I could get him to make an appt) we decided to take mine instead. So, it will be a 6 week wait for the results. The doc does not necessarily think that my father or I have Marfans but he definitely says there is a differential diagnosis of Connective Tissue Disorder in the family and it is either Marfans or Ehlers Danlos. Our family really has symptoms of both so I asked if it were possible to have both. He says it is a possibility that there are two separate CTD's floating around the family, although it would be very unlikely that one person would have both.

He measured my armspan as related to my height and it is about 3 percent greater, which is not the magical 5 percent number they would expect in Marfans. He also measured my dad's and my hand/middle finger starting at the wrist and said that even though we do have larger hands/long fingers our middle finger length was in proportion to our hands. He also mentioned that he sees a lot of Marfans patients and that even though my father and I have long, narrow faces they don't look like the Marfan's face. He inspected our palates and although mine is high, he said it was not impressively so. But, he did confirm my positive thumb and wrist test and scoliosis via visual examination. He also had me touch my thumb to forearm, tongue to nose (there is a name for that sign) stretch my neck skin (it is stretchier than usual) and move all of my fingers backward. The little finger moves beyond 90 degrees but they all move more than they should. So, there is enough there to raise a suspicion of Marfans/EDS but since I don't apparently have a dilated aorta or dislocated eye lens there is just no way to say for certain without a blood test. But, he warned that 15 percent can be false negative so he says I'm not off the hook completely even if it is negative. He absolutely wants to see my brother and also have him see an aorta specialist he works with closely at Vanderbilt. And, if I understand him correctly, if my test is negative but my brother's is positive then I for sure could be ruled out for Marfans and would not need to pursue any further testing for myself and my children. However, I would then have the diagnosis of Ehlers Danlos Hypermobility type. Very confusing but hopefully after the bloodwork returns it will be as clear as mud, lol!
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Re: Aortic Index Question

Postby Marf on Sun Oct 07, 2012 10:37 am

Makes me wonder if they will test the "entire" string of fibrilin in both you and your brother......or will they test you, possibly find a mutated marker and use your results as a baseline for your brother and "only" look at specifics in him. (cheaper test)
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Re: Aortic Index Question

Postby apbnash on Sun Oct 07, 2012 5:59 pm

I think that is exactly what they plan to do. In a perfect world, he would have tested my brother first since he is the one with the large aorta. But since he was not there, nor was I sure he would ever be, I had to go ahead and bite the bullet. It's the full, $1700 test on me. Keeping my fingers crossed that insurance won't give us any issues. I had the ins. policy with me on genetic testing and the doc said that I definitely fit their criteria. I was hoping my dad would volunteer since it's so expensive but no such luck. I guess the good news for the family is that if I am positive their tests will all be much cheaper. But, on the other hand, had I not done the test (or any other family members) me and my kids would have probably had to undergo annual echocardiograms for screening and over time that would end up costing more than this one time blood test on me. My deductible and coinsurance is met for the year so as long as they cover it I should not have to pay anything. Still nervous about it until I hear from insurance but the doc says he will go to "federal court with me" if that's what I need to do in order to get the test covered. Hopefully that won't be necessary but I do hope he will keep his word on that one. So, now I just wait the 6 weeks and see....
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Re: Aortic Index Question

Postby apbnash on Wed Oct 24, 2012 5:10 pm

Today I got back my genetic testing results, after less than 3 weeks!!! They tested the fibrillin gene and TGR.... something rather. The test was negative, which means that there is an 85% chance that I do NOT have Marfans. They feel that it is most likely Ehlers Danlos Type 3 (hypermobility) but because my brother does have an enlarged Aorta they would like to test his blood before they can be completely sure of my diagnosis. If his test was positive then that would make mine a true negative. My brother is not very willing to see any additional doctors about his heart situation so I don't know if we will ever get blood results on him. They told me that Ehlers Danlos does still carry a 10 to 12 percent risk of aortic dilation so I wonder if that could possibly explain his situation if this is not Marfans? Or, perhaps he has Marfans while I have EDS? The doctor did say that was a possibility. Either way, I still have to get echos every 3 years due to the EDS and my most recent one was normal so I don't think I am in any immediate danger of dissection if there is a 15% remote possibility that this is actually false negative Marfans.

Just wanted to give an update. Still keeping my fingers crossed insurance covers this very pricey test.
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