New Echo results

[wfw0789]

Yesterday our daughter, 12yr old Marfan patient, had an echo and we are worried about the results. 8 months ago we had an echo and the results showed an aortic reading of 3.67. Yesterday we had a result of 4.1.

A little med background, dtr started taking a prescribed topical B12 cream in Nov '09. The prescription says Methyl B12/Hydroxo B-12/Folinic acid/P5P/Vitamin D compound. She is supposed to take 30 mgs per day but she can only take 1/4 of that a day as any more causes behavioral issues. She sees a Neurologist, Dr. Kendal Stewart in Austin Tx for Autistic symptoms, he believes are caused by viral issues. She is also on Amantadine and Acyclovir for this, as well as 10 mg hydrocortizone for inflammation. This is in addition to Losartan 75mg/day and Atenolol 6.25mg/day.

The dr said he wants an MRI done to get a more accurate reading and to ease some minds. Dr. Stewart said that this folinic acid compound could stimulate growth. We questioned him about her marfan issues and he said he has several marfan patients and that it shouldn't cause her to be any taller than she is predisposed to be. We did not specifically ask about the aortic root growth, assuming he knew this is the most important issue. Okay, here is the question to some of you chemist type people out there. Could this combination increase the aortic root from 3.67 to 4.1 in this short amount of time?

[akm3]

Hi wfw

An incredibly complicated question that is. Not sure if I can answer it, I'm just an engineer.
First thing is to determine reason and effect. My laymans opinion about this is:

1) Your daugther reaches puberty now. -->
2) That increases her TGFbeta. -->
3) That makes her aorta grow (a) AND has a bad influence on the inflammatory cycle (b)
(b) 'leads' to that viral infection of the skin. The treatment with that cream you described looks perfect to me. It contains all of that stuff that could in my opinion help as well in Marfans (if taken orally), but I don't know about any evidence about such effects (besides of vitamin D, search this board). I don't understand why this cream should influence the growing positively, perhaps someone else has an understanding of this?
What you should do in my opinion is:
4) Exchange the Losartan with something stronger: Irbesartan 150mg to start with or more, even, (or even Telmisartan or Perindopril, but they are not aimed at children). Whatever your doctor is convinceable to prescribe.
5) Have your daughter checked more often (at least twice, better 4 times a year) for the aortic root diameter from now on until the puberty is over.
6) Maybe an endocrinologist might have an opinion about all that as well.

[tesla77]

You have to be careful with Echo results from just two readings. The simple truth is that you dont know which one is right.

Im not so sure that the aortic root has increased or not. There are so many pitfalls in trying to accurately measure the aorta. For example the difference between M-mode (where sound waves are used to make the measurment ) and two dimensional (where they actually measure the diameter off the screen) can be off by up to 5mm (0.5cm).

You need to start with the measurements themselves. I always get copies of the echos. Most of the time they will give them to you on CD. With a little study you can see how they made the measurement. Often times there is no oversight on these things. A technician (about to go on lunch perhaps) places the cursor on what he-she "thinks" is the widest part of the aortic root. The aortic root is shaped like an onion. In the echo window it is also moving up and down at a rapid pace...Imaginge the inaccuracy of trying to snap a line accros the widest part of an onion bulb moving up and down so fast you can barely see it !!!

The MRI also has pitfalls. Some radiologists measure including the walls...while others measure only the lumen (blood filled area) leading to differences in measurement of several mm or half a centimeter. Also the MRI measurement often does not distinguish the phase of the heart beat (systole or diastole) leading to further error. Dont be suprised if the MRI comes back different from BOTH echos.

UNFORTUNATELY-------If you want to really see what is going on you will have to get copies of the actuall echos and play them on your computer. Watch carefully over and over again and take the measurements yourself IN THE EXACT SAME SPOT.

You can do this with some tracing paper and a pencil. The screen always provides an adjusted scale to measure off. Trace the aortic root on the paper and place it over the scale at its widest part. THIS IS THE MOST ACCURATE AND REPRODUCIBLE WAY TO COMPARE MEASUREMNTS>>>DONT LET ANYONE FOOL YOU.

If you see an increase after careful analysis I would definately go for Irbesartan. Losartan (as I have said) is GARBAGE !! It is the weakest ARB out there and I am shocked that such educated people as DR Dietz would be so foolish to use the weakest most surmountable ARB in a trial so important.

Dont be afraid to grab the bull by the horns and learn to interperate the echos...its really not that hard any YOU will look a whole lot closer at things than any Dr will....you will probably look at it for hours on end measuring every angle....thats the way to see any real difference.

[wfw0789]

Thanks for the input. Her doctor, Dr. Jefferies at Texas Children's (Baylor) is open to putting her on Telmisartan IF the MRI shows significant increased growth. WE WANT HER ON IT YESTERDAY!! Do any of you have a doctor in the Houston area that you could refer us to if he won't budge on this issue?

Btw, the B12 cream and antivirals are for systemic viral issues, (including in the brain) not on the skin. He determined her to have very low dopamine due to a series of sensory tests that he performs as well as lab tests.

A nurse just called to schedule the MRI and said he ordered it for the chest, neck and abdomen. He also mentioned they have found that some people have a mutation that would predispose them to more severe disease. They have done genetic testing and determined she has Marfan Syndrome, not Loey-Dietz. Does anybody know what this means?

[tesla77]

hmmmmm...

Well, its not possible to measure Dopamine levels. Dopamine is a neurotransmitter and its levels in the brain can not be accurately determined, one could geuss that dopamie levels are low and do some fancy MRI work to try to confirm it...but its still (to the best of my knowledge) not possible to accurately measure it in the brain.

B12 creme would have no effect on infections in the brain. It would not diffuse to the brain from the skin. B12 injections could have some effect though.

How do you know she has a virus ??? Has this been confimed through serological testing ??

She had genetic testing that came back positive for one of the 10 or so mutations consistent with Marfan syndrome. Loeys-Dietz syndrome is a rare connective tissue disorder that is much more severe than Marfan...looks like she dosent have that...THATS A GOOD THING.

[wfw0789]

This doctor uses "The Sensory View" testing to determine dopamine levels. www.drkendalstewart.com He invented it and it's all FDA approved and insurance reimbursable. He is a nationally known Neurologist who has a good track record. He thinks that the H1N1 virus attacks the neurons that affect dopamine. (My daughter had the flu this summer.)This is all cutting edge information and treatment. Most people/doctor's would not know about him or his protocol unless you happen to live in the Austin area or be referred to him, which we were by our family doctor.

No, she doesn't have Loey-Dietz but evidently he was referring to something else. He said that they have found that there is an area on the "axom?" that if you're mutation is at one end or the other you have a more severe disease process. Sounded like something they have just discovered. He's at Baylor College of Medicine. Was just wondering if anyone else had heard any of that.

[tesla77]

The Sensory View System is interesting and may prove to be effective at tayloring treatments...BUT it certainly can NOT quantify dopamine levels and it is NOT FDA approved for this application. It could (much like an MRI) provide insight into different areas of tissue and how much electrical function exists...thus giving some sort of idea as to which area of the brain is not "lighting up".....but it can say nothing directly about dopamine levels....for example the dopamine may be high but there may be a problem with the receptors...BE CAREFUL

How sick is your daughter neurologically ? Can she function ? Did here problems start AFTER the H1N1 Virus....?? The idea that H1N1 attacted dopamine producing neurons/cells sounds like a hail mary to be honest. I would certainly entertain that as a possibility but I wouldnt bet the farm on it so to say.

Any way....yes there have been some specific point mutations associated with more sever disease progression...but they are not 100%. In other words just because she has this mutation does not ensure more severe disease.

Again the main thing is to keep the big one from happening. Keep a close eye on the aorta and try to look at things yourself. Dont assume that the Dr is going to read it right. I know thats hard and sounds like distrustfull skeptic talk....but unfortunatly its true.

Best of luck with your daughter...cant imagine something being wrong with one of my kids. You must be under a great deal of stress...but she sounds in good hands.

[wfw0789]

WFW's hubby here,

the echo technician lets me stand over their shoulder during all the echos and I get to watch them measure and the record several videos and play it back and forth several times before measuring to get the best measurement. They measure each wall, the blood area and the valves as well as "blowback" as one of them called it. Where there is prolapse. We have had many echos and I have watched some amazing technicians measure. Very meticulous at what they do.

They measure the chambers as well as the ring just outside the valve at the aorta base, the bulge and the root just after the bulge. The readings have been pretty accurate so far and there has been a slight increase over the past but this last echo showed the greatest increase we have ever seen.

Texas Children's is pretty thorough in their echos. I have been amazed.

[tesla77]

Do you know if the measurement is M-mode or 2-D ? Ino other words are they taking the measument from the 2d image or are they just taking from m-mode tracing. The m-mode reading has the advantage of averaging cycles of the heart beat.

Another thing that can throw it off is the angle of the cursor. The long and short is that echo is just not that accurate no matter how careful you are.

Here is a link to a real good paper describing the pitfalls of measuring the aortic root and how its really almost impossible to get it right by echocardiography

http://content.onlinejacc.org/cgi/content/abstract/55/9/841


But from what you are telling me you have seen a pretty much reliable increase for previous readings....I think that you are on the right track by getting the MRI.
Let that settle it. If it has increased then I think that the right thing to do is to get on a stronger ARB. or perhaps perindopril.

Good luck with everything

[wfw0789]

Tesla,

She has a diagnosis of Asperger Syndrome and is very intelligent and high functioning. We saw significant regression in her behavior, sensory issues, ect. after having the flu. The doctor that referred us to him said he is known in doctor circles as "the viral guy." He seems to be having a lot of success with his patients according to their email list. I do have a call in to him because I am kind of leary about doing anything now until we know more about the size of her aorta. Her cardiologist said if the MRI shows increased growth that he would say no more of that protocol. I guess he thinks maybe the antivirals or B12 cream would cause aortic growth.

[Melissa]

Can I ask what increased symptoms you have seen in your daughter in regards to her Aspergers? I am curious because I have a nearly 14 yr old Aspie son who is in all appearance Marfans but one criteria from an official diagnosis. We also had H1N1 flu go through our home last October but I can't see that his symptoms have increased due to that. He has started a new Self Stim behavior which is pacing back and forth when he is not able to focus his energy on something. (boredom he says lol) but he does not do this at school. I have noticed with my Aspie son that his behaviors come and go in phases too. I was just curious what you have seen and wonder if the increase could just be a matter of her starting puberty and the changes she is going through physically.

[wfw0789]

This doctor has been seeing the same symptoms in hundreds of patients that have been infected with H1N1. He said this virus attacks dopamine receptors. She's been going through puberty for over a year. Just saw increase after the flu. There is more info at his site www.drkendalstewart.com