Testing children for BAV - need proof as to why

[Chrisandgary]

ITs me again! I discussed with my pediatrician testing the 4 kiddies for BAV - didnt get anywhere. I just saw the other pediatrician in the office because my daughter had strep throat and I discussed with him my issues - he told me to bring in my research and he will discuss with our regular doc. and push him for them to have echos done. He is in total agreement with me to have them baseline tested.
Where is the best place I can go to print out research to support my cause to accomplish this.
Thanks guys! I wont sleep well until I get this done - my hubby is pushing for my son to play football next year and I am putting my foot down until I can get an echo on him. Am I nuts????????

 

[aussigal]

Hi NO! your not NUTSO !..youre smart!

get them tested 2 out of my 3 sons have BAVD how much more proof do you want can I send him something for you like their report to prove this!?...


PRINT my story out for him to read ! that may get their attention! look for the "My 3 sons" threads there's a pt. 1 and pt 2....


I live in Australia and I just kept asking my GP/PCP could I get the kids tested cos I was curious!...eventually he just wrote me the referral for an echo for 1 of them, when he came back positive for BAVD he quickly wrote the other 2 out...So I had all 3 echoed and 2 have BAVD so yeah , in my case it was VERY INHERITABLE! Another possible easy free and quick possible-pre-test would be to listen for a heart-murmur but these can be mis-heard and mis-diagnosed...my own murmur was ignored for 35 years...no-body had ever heard a murmur in our 3 boys yet 2 have the dodgy valve and Matt has a murmur. So tell my story to those doctors of yours see if that wont help.


The http://www.bicuspidfoundation.com has the good info on how herditary this is too..maybe a copy of their info would help too.its something like 20% for the first kid and 50% for all subsequent kids if the first is positive

and let your hubby know too.

 

[PapaHappyStar]

ITs me again! I discussed with my pediatrician testing the 4 kiddies for BAV - didnt get anywhere. I just saw the other pediatrician in the office because my daughter had strep throat and I discussed with him my issues - he told me to bring in my research and he will discuss with our regular doc. and push him for them to have echos done. He is in total agreement with me to have them baseline tested.
Where is the best place I can go to print out research to support my cause to accomplish this.
Thanks guys! I wont sleep well until I get this done - my hubby is pushing for my son to play football next year and I am putting my foot down until I can get an echo on him. Am I nuts????????

Here is a recent article with a pretty convincing statistical conclusion:

Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW Bicuspid aortic valve is heritable. J Am Coll Cardiol. 2004 Jul 7;44(1):138-43.

Burair

 

[Natanni]

Testing...

Testing...

Okay....struggling with the very same issues...

My son is 14 and has no murmur.....the pediatrician was very confident that our son has no valve issues; He went on to play football and is now in his 9th year of hockey

My daughter 9 years old was found to have a murmur, and he is concerned of BAV. This pediatrician also has BAV with stenosis, as does his son.

My daughter needs an echo...and I am just buying some time for her to forget some of Dads surgery stuff. She is an active figure skater, just as bad as hockey in my opinion....and I have heard conflicting info aerobic activity prevents aortic valves from progressing to leaking, and Nathan's Aunt with a mitrial valve prolapse was told no aerobic activity. ?????

I can't offer any links to check out to get info on this, but I was told by the Mayo to get our kids checked, where there is one BAV, there will be more. We need to follow in Aussie's foot steps and get our kiddies checked out too.

 

[Chrisandgary]

Aussiegal - thanks for the info and one question-I was unaware there is a test for Marfan's? Could you tell me more about that? I thought it was based on the characteristics - long fingers, double jointedness and so forth. We just came back from Thanksgiving at my husbands brothers house. He has 2 sons and 1 daughter. When we got in the car to come home - I said to my hubby - boy does your nephew look like he has Marfans. He is very tall for 16 years old and has very long fingers and toes! One surgeon did question if Gary had Marfans while the cardiologist was in the room and the cardio said "NO." How the heck does he know for sure??? My hubby has long fingers, and can dislocate his thumb - so can my hubbys brothers, their children and my children. I read somewhere this is one of the characteristics - however it does not mean for sure you have BAVD.
Anyway - Garys family (Football freaks) asked me when our son who is 5 playing football - I said not until I get an echo on him. They think I am off my rocker! None of them think it is necessary to test their children or my hubbys brothers.
Thank you for your info again!
Christine

 

[aussigal]

No worries Chris ...

The actual testing for Marfans that I am having done is with the genetics-joint at the major teaching hospital in Perth.

Now I have just returned from there and the Doctor doesnt believe I have Marfans but is doing one more test on me to check,,,this is an eye-test where they look for dislocated lenses,,,,shocking short sightedness can be attributed to Marfans as well...
You are correct there arent many tests for Marfs but there are a few they can do...Fibrilin is deficient in Marfs and they can test for this ...they also do lots of measuring and looking at you close up physically ...To be a Marf you need to meet the criteria . Details are available on the web (youve probably already read them by the sound of it...the long fingers , dislocating thumbs , touching thumb and little finger around your wrist, hypermobility, Skeletal changes and then the heart changes, my aorta is dialated but they seem to think its not quite at the right spot for a Marf whose are usually at the root where it is largest . Mine is in the ascending aorta where it is largest and is much more likely to be the "bicuspid aortic valve disease" which has some elements of marfs in it..I also was curious about EDS (ehlers-Danlos syndrome Vascular) cos that also has cross-over symptoms as well.

Anyway they dont think it will change my treatment-plan whatever the end result is ...

I am the first patient the Genetics-specialist has seen with Bicuspid Valve disease and he feels this is our problem not marfs,... ( insert big sigh of relief! ) .

Its hard when other family members dont take you seriously but this is actually very serious because Matt has already at nearly 15 got a dialated aorta and Steve @ 10 has regurgitation, and both these can lead on to end up like me here needing an aneurysm fixed . and I do not want that for our kids ..so thats why I pursued this till they checked all 3 so we can stop or slow any progression of their disease and hopefully avoid the problems I have. In years to come they will probably put them on beta-blockers or similar as a preventative measure because the kids also have this Labile hypertension which I feel just encourages the aorta to stretch.

This is the beauty of medicine these days they can find these things easily and early and be pro-active in care of their condition. I discourage strenuos activity in the boys but then I did anything I wanted and was always a strong girl...I would never have done all that heavy lifting if I knew about this earlier. Luckily I lost interest in sporting stuff when I was about 15 like many girls... , cos it used to leave me breathless and I often feel faint even now I get faint easily.

So yeah , please go check those kids out, one lil echo, and should be done by a paediatric cardioligist .

best of luck to you
I shall be waiting to hear the results.

 

[Kate]

The Cedars Sinai site has a great description of Bicuspid Aortic Disease, who should be tested and why. This is what I printed out to convince my siblings to be tested after I was diagnosed (happily, all came back negative). Here's the link:

http://www.csmc.edu/3893.html

Best of luck, Kate

 

[francie12]

Hi, everybody--
One thing to remember when it comes to testing kids is that even if the bicuspid valve is hemodynamically normal, no regurg. or stenosis, no murmer, you can still have the funky aortic tissue and dilation of aorta that so often goes along with BAVD. I really feel that all first degree relatives should be screened regardless of whether or not a murmer is heard (and they can be easy to miss). Just tell it to the insurance companies!!!
All the best.
Thanks for the great article, Burair!

 

[PapaHappyStar]

Hi, everybody--
One thing to remember when it comes to testing kids is that even if the bicuspid valve is hemodynamically normal, no regurg. or stenosis, no murmer, you can still have the funky aortic tissue and dilation of aorta that so often goes along with BAVD. I really feel that all first degree relatives should be screened regardless of whether or not a murmer is heard (and they can be easy to miss). Just tell it to the insurance companies!!!
All the best.
Thanks for the great article, Burair!

You are welcome. It is a study that was sorely needed and nicely done.The last paragraph of the conclusion strongly supports the echo-cardiographic screening of BAV patients' families.

Here is an excellent, recent and thorough review of the bicuspid aortic valve:

The Bicuspid Aortic Valve
Braverman AC, Güven H, Beardslee MA, Makan M, Kates AM, Moon MR
Current Problems in Cardiology- 2005 9 (Vol. 30, Issue 9)

If you want to educate your cardiologist give her/him this citation...
I'll put the full text online soon ( in the library without proper access to my account right now ) as well ( possibly flouting copyright, but posting here probably falls under fair use, and you're free to buy it to support the research )

Burair

 

[Marguerite53]

thanks, all.

thanks, all.

Thanks for the article, Burair. I'm thinking I'm probably going to push again for a screening for the boys over the winter holiday when they are both home for a few weeks.

What is it that causes a doctor to budge? How do you change their minds? An isolated study like Burair's? It's worth a try.

So glad this is becoming a large topic here on VR.com. I so appreciate everyone's concern and sharing. Thanks to all.

Marguerite

 

[PapaHappyStar]

Thanks for the article, Burair. I'm thinking I'm probably going to push again for a screening for the boys over the winter holiday when they are both home for a few weeks.

What is it that causes a doctor to budge? How do you change their minds? An isolated study like Burair's? It's worth a try.

So glad this is becoming a large topic here on VR.com. I so appreciate everyone's concern and sharing. Thanks to all.

Marguerite

Although I wouldnt mind taking credit for a nicely done analysis its not "my study"

A single case can be deemed to be isolated ( or coincidental ), a peer reviewed study with a statistically significant sample should be considered valid unless its conclusions or method are shown to be invalid or atleast doubtful/dubious. I wouldnt trust a medical professional who refuses to take something like this seriously without giving me good reasons for it.

Here is the full text of the second article:

The Bicuspid Aortic Valve
Braverman AC, Güven H, Beardslee MA, Makan M, Kates AM, Moon MR
Current Problems in Cardiology- 2005 9 (Vol. 30, Issue 9)

The article on the heritability of the bicuspid artic valve has been cited many times.

Burair

 

[aussigal]

I can only speak from an aussies perspective and how it worked in our system...

We attended a Family doctor whom I had been nagging for a few weeks to get an echo of Steve to check he was OK because I had read of this being heritable and that my own Dad had died suddenly at 38 and his dad at 52 of a similar fate. I stressed that I was CONCERNED about the kids, and also in my mind Steve was the most likely to have this (mothers' intuition call it )...anyway it wasnt hard to get the other 2 screened once he came back positive, they rushed it through for me actually and I had all 3 screened within about 7 days.

Mind you my cardioligist at the time had also said it wasnt necessary to screen my 3 kids either,,,thats one of the reasons I began to want a second opinion also about myself. I havent been back to see the first cardioligist since the 3 boys have been d'xd we swapped to another guy who even without seeing my 3 boys asked for me to send them to Luigi the Paediatric specialist for testing At least he was awake the day they studied heritability.

 

[francie12]

Burair's 2nd article

Burair's 2nd article

What an excellent sum up! This is very valuable--thanks a million!