BAV -- poll on passing it on

[PapaHappyStar]

Thank You Burair for posting this survey!! It would be interesting to do another as well, patients with BAV and their parents heart history;

I voted for Nathan, and our daughter has a 'suspicious' murmur, and they are treating her now as though she is bicuspid until proven otherwise so I voted her as being suspected. She has an appt for an echo in June by her Dad's doc. We have one son with no heart murmur.

I think it would be a good idea -- would increase the statistics, but the errors ( due to incorrect diagnosis -- and perhaps also some due to incorrect projection in retrospect ) might be larger.
Not that we are concerned with accuracy here ( we really cant be ), just to give some indication as to where things point -- plus underscore the necessity of testing our children. Even an anecdotal result like this might be somewhat convincing to many doctors in conversing with them.

The result as of this point is 2 out of 9 BAV parents have kids with BAV -- thats 22%, a whole order more than the 1 to 2% in the general population ( even discounting multiple kids with BAV in one family ). This paper:
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.
says their sample gives them a 24% prevalence. They dont differentiate between the sex of the parent and their hypothesis about the genetics of BAV is: varied genes produce BAV, and they construct their model using this hypothesis. I am no geneticist but I think there might be a simpler cause of BAV formation ( or perhaps a few simple ones ).

Also interesting in this poll is fyrfytr's message about one of his sons having MVP ( mitral valve prolapse ). The paper above links an increase in the occurance of other CVM ( cardiovascular malformation ) with the presense of BAV in the family.

Pretty interesting what you can find even with such limited statistics ( although we may have got a bit lucky with the way some of the numbers have panned out so far )

 

[aussigal]

Hey!!!!...

what about me?...

I ticked the first option...

BUT we KNOW for sure 2 of my 3 boys DO have BAV and the third has a regurgitative mitral-valve...

I hit the genetic jackpot I know

I sat-in on all their echoes. They had 2 each by different people. 1 of those was the paediatric cardio, the other was by Kathy the girl/tech who did all 4 initial scans...and just to complete our family history my father and his father are also suspected to have had this...

from my readings Papa...
I know only 1-2% of the population have BAV
BUT
...importantly then when they went further and went and did this type of testing on BAVers and their immediate families...they discovered that a BAV person has a 75% chance of passing on the gene and theres an 85% chance of passing on a BAV and or any other cardiac problem...this is per pregnancy ok...so If you have a BAV you have about a 1 in 4 chance of NOT passing it on...
anyone who hasnt hit the jackpot like me I would consider very lucky...
If I can find the link before I forget I was looking for it i shall add it...Its in Pub-med or similar.

ton

 

[PapaHappyStar]

Hey!!!!...

what about me?...

I ticked the first option...

BUT we KNOW for sure 2 of my 3 boys DO have BAV and the third has a regurgitative mitral-valve...

I hit the genetic jackpot I know

I sat-in on all their echoes. They had 2 each by different people. 1 of those was the paediatric cardio, the other was by Kathy the girl/tech who did all 4 initial scans...and just to complete our family history my father and his father are also suspected to have had this...

from my readings Papa...
I know only 1-2% of the population have BAV
BUT
...importantly then when they went further and went and did this type of testing on BAVers and their immediate families...they discovered that a BAV person has a 75% chance of passing on the gene and theres an 85% chance of passing on a BAV and or any other cardiac problem...this is per pregnancy ok...so If you have a BAV you have about a 1 in 4 chance of NOT passing it on...
anyone who hasnt hit the jackpot like me I would consider very lucky...
If I can find the link before I forget I was looking for it i shall add it...Its in Pub-med or similar.

ton

Seems you and me are talking about the same result, the numbers they give are almost the same as the ones in your post ( the link is in this thread ) -- they are not talking about the per-child proability of having a BAV ( and or other CVM ), this is a heritability index -- which as far as I have understood it -- is the chance BAV is caused by genetic factors vs. environmental ones.

So you are still something of an anomaly ... but not too much of one since they do find 1 in every 4 people in BAV families have BAV -- also there is clustering ( i.e. if you have more than one person with a heart abnormality you are more likely to have even more )

This is what I understand -- I think some parts of their analysis might be a little dodgy ( or maybe I didnt understand it )

 

[aussigal]

mmm...
yes I do recall reading that study too Papa...

maybe I read the long version and the short version of the same study

I shall print this out to make it easier to read ...

I dont remeber the other-one being quite as wordy as the one you have here...
then again I have read and learnt an enormous ammount since October 2005 when I stumbled across the best website in the world! .

Probands and the other sort of stuff though...defiantely...
When I first began my " 101 BAVD" course
It was something I had used my limited mathmatical skills for, and figured out 2 out of my 3 kids would most likely have this..

starting with the approx. 25% chance of a BAV passing it on ....
being that if you pass it on once you have even higher chance of further passing it on in combination with other CVM's....


yeah...I have the feeling its the same study...

this study goes some-way to explain why the usual 1-2% existance of BAV is compounded if you have a BAV and reproduce!...I have also read that us gals passed it on better ( for want of a more appropriate word) than you guys!...

yet the ratio of bav has been quoted anywhere from 4:1 to 2:1 boys VS girls...

keep up the good work Papa not all of us have the brain-power to decipher these medical papers , specially when they go into the nitty-gritty of genetics and autosomal dominance etc...I found the subject fascinating in year 11 biology at school.

 

[Marguerite53]

Hi Burair. Good idea, this poll. Of my 3 children, 2 boys, 1 girl, only the girl has been echoed. She has a normal aortic valve and all other valves, everything normal.

Marguerite

 

[aussigal]

I wonder...cos I have read and cannot find it again...grrr...

....that girls tend to pass this on "better"
might have been one of the days I spent searching thru pub-med stuff......

K...most excellent poll Papa...
c'mon everyone...have you filled out the poll yet?

 

[PJmomrunner]

Me too, Ton!!! I KNOW I've read that somewhere, but I cannot find it again either!

 

[aussigal]

Yeah no need to vote if you dont have a BAV, unless you just feel like voting on something ( I know this feeling ... )

The fact that Turner syndrome children have BAV got me thinking about whether this fact can be used to narrow down the genetic cause of BAV -- its probably been thought of before ... . From this forum alone one can probably rule out the exclusively random occurance hypothesis -- ( and even do it somewhat quantitatively using the math of probability and hypothesis confidence levels ).

Here is my reasoning:
-- Turner's syndrome is due to a defective or absent second X chromosome
-- Turner's syndrome children have BAV 30% of the time.
-- Normal BAV occurs more frequently in males ( XY ) vs. females ( XX )
-- If the genetic cause of BAV lies in ( or due to ) the X-chromosome it would make sense of the prevalence of BAV in males and in Turners children ( since if the abnormality is in the X chromosome there is no normal X to correct it )
-- If this is true then BAV women ( who pass on the X chromosome to their sons ) would be most likely to have BAV sons

This is pretty naive reasoning and there is probably no way we could conclude anything here as well -- but was fun to think about it.

YES YES YES !!!!!

....TURNERS ....ONLY affects girls...

this is exactly what I had concluded Papa...for the EXACT SAME REASON YOU HAVE POSTED...PHEW...

saves me typing it out...lol

as many of you know and can see in my sig,,,2 of my boys have BAV the third has a mild case of MVP which when you read more about it you realise its fairly common for BAvers to have it too..I myself have both and so does my youngest son...My eldest has a mild coarctation and a BAV...
my sister doesnt have this I dont have any-other brothers or sisters, she finally got a scan, but has still refused to get her 4 kids scanned ( she has 3 boys and 1 girl)...I worry about her eldest 2 a boy and a girl...both of those kids have the same road-map chest veins like we ( us 3 BAVers)do...I had read this info early-on in my BAV schooling...which is another reason I pushed for the boys to be tested ASAP!...
I have an idea for another poll...be back later...when I have composed it

I reckon we should offer this info up to Arlys especially if the BAVD foundation would fly me over for a visit ...


and yeah....why cant we see names on this poll?

 

[PapaHappyStar]

YES YES YES !!!!!

....TURNERS ....ONLY affects girls...

this is exactly what I had concluded Papa...for the EXACT SAME REASON YOU HAVE POSTED...PHEW...

saves me typing it out...lol

as many of you know and can see in my sig,,,2 of my boys have BAV the third has a mild case of MVP which when you read more about it you realise its fairly common for BAvers to have it too..I myself have both and so does my youngest son...My eldest has a mild coarctation and a BAV...
my sister doesnt have this I dont have any-other brothers or sisters, she finally got a scan, but has still refused to get her 4 kids scanned ( she has 3 boys and 1 girl)...I worry about her eldest 2 a boy and a girl...both of those kids have the same road-map chest veins like we ( us 3 BAVers)do...I had read this info early-on in my BAV schooling...which is another reason I pushed for the boys to be tested ASAP!...
I have an idea for another poll...be back later...when I have composed it

I reckon we should offer this info up to Arlys especially if the BAVD foundation would fly me over for a visit ...


and yeah....why cant we see names on this poll?

The poll looks skewed now -- more women with BAV have voted, the ratio should be 3-1 in favor of the men from the prevalence in the population. Just goes to show we cant conclude anything much from a poll like this...

Hey Ton, you know I am lying a little bit ( actually more than a little bit -- white lies though ) in my reasoning up there -- actually Turner's girls are X- with one normal X chromosome so they shouldnt have BAV if the mechanism works exactly the way I said it does. You should check my reasoning before agreeing with it so emphatically --- not to say that the X might have nothing to do with it, I would be interested in reading the article you mention where they say women pass it on better. The rest of the stuff you mention is interesting as well, I wonder how many BAV people have annie's ( aneurysms ) and the chest veins you mention -- I dont have either. Also if the AAA ( asc. aortic. aneurysm ) has any relation to the heritability. A poll on these topics is interesting as an indicator but the control and sample is not sufficient to draw conclusions.

Hope BAVD foundation does fly you over though

I think they need to do more studies, and more thorough ones than they have done so far. I think cracking this problem is important -- BAV has fair societal consequences and is not a benign disorder that can be written off as having a complete cure.

I will not be on a lot -- am getting very busy now trying to make Mary's deadline to go visit her.

Thanks for voting on this poll

Burair

 

[aussigal]

Papa...aww...now I am getting confused...t'was 25 years ago I studied biology...

and I have totally forgotten what my idea for another poll was too... ...

PJ...I reckon the info on how well us gals pass this on would have been in Pub-med somwhere around the BAV heritability stuff ...

I am gonna try track it down...you know all the links on the side of pub-med with links to similar articles...I will start at the BAVD foundation and work my way through til I locate this piece...

I too am positive I have read it

 

[Soilman]

I've got BAV, but have no children yet. However, my mom does have a heart murmer but has never been checked for BAV because it has never gotten worse. Sounds suspect to me! Not sure how to vote on this one.

Barry

 

[Mary]

Burair,
I almost posted two days ago saying you had lost me after Aussie's posted her agreement with your reasoning.
Whew! I'm glad I'm not losing it just yet!
Ok, now please get back to work so you can meet us in May!
Mary

 

[beccaslp]

No BAV, but Cleft Palate

No BAV, but Cleft Palate

I have BAV. I had BAV. I have (fraternal) twin girls (4 years old). Neither of them have BAV or any heart problems. But one of the girls had a cleft palate. That has been repaired. Do not know of anyone else in my family that has or had a cleft. BECCA

 

[Karen]

I've been interested in this poll, but have hesitated to vote until today. And still I hesitate, actually. I am a female who does have a BAV and no children with known BAV, but only one of 8 has been screened for it. I look forward to the day when we DO know for sure if my son who had a murmur at age 5 but doesn't have one now, has a BAV. I have a hard time voting with certainty that NONE of my children have inherited this. My cardiologist has told me it would be "remarkable" if none of them did.

Another area that I'm very interested in is how common coarctations and bicuspids show up together, and what, if any, the heritability is of the coarctation. One of my echo technicians told me that 85% of coarctation patients will be found to also have BAV, while 15% of BAV patients will have coarctations. It's interesting to me that one of Toni's sons also has a coarctation. But that would be a poll for another day.

 

[aussigal]

I think info on coarctation and BAV is available through the medical-links on the BAVD foundation...


next Question...
Mary, cos Papa is busy preparing to vist you...can you let me know where I am confused in my lil brain on the turners and X chromosone thingy..(computer had an OOOOPS...)

 

[Mary]

I think info on coarctation and BAV is available through the medical-links on the BAVD foundation...

Mary, cos Papa is busy preparing to vist you...can you let me know whe

Ton,
I'm not sure what the last of your reply is asking. Do you mind repeating it? Thanks

 

[aussigal]

Ton,
I'm not sure what the last of your reply is asking. Do you mind repeating it? Thanks

No worries!... Mary...

My computer-froze-up which caused the above post to get stuck half-way thru a word and I was booting-up when you beat me back here... ...

I would be very interested to hear more on the X chromosone theory and the problem with tying it to BAV's etc...

Early on in my BAV learning when I read of "Turners" and its effects on the girls. I remember these gals have anywhere from a lazy to a non-existant "girly-hormone-system" because of the Turners' and the faulty X or even missing seX chromosone... Also there were various connective tissue problems that many of these syndromes seem to share along with BAVers , Marfans and Ehlers Dahnlos sufferers . Things like Scoliosis and
Arthritis/Osteoporosis .

Becca...my mum has some birth-defect with her palate as well..I think her hard palate failed to develop...not sure..I will ask her again...but this is also interesting cos I had thought this had come from my Dads side yet Mums side has a whole heap of this stuff too...

Maybe we could devise a poll to see what sort of connective tissue faults us BAVers have in common!?

 

[Karen]

P.S. to earlier post

P.S. to earlier post

I've been interested in this poll, but have hesitated to vote until today. And still I hesitate, actually. I am a female who does have a BAV and no children with known BAV, but only one of 8 has been screened for it. I look forward to the day when we DO know for sure if my son who had a murmur at age 5 but doesn't have one now, has a BAV. I have a hard time voting with certainty that NONE of my children have inherited this. My cardiologist has told me it would be "remarkable" if none of them did.

Another area that I'm very interested in is how common coarctations and bicuspids show up together, and what, if any, the heritability is of the coarctation. One of my echo technicians told me that 85% of coarctation patients will be found to also have BAV, while 15% of BAV patients will have coarctations. It's interesting to me that one of Toni's sons also has a coarctation. But that would be a poll for another day.

I think my real question here is whether or not having had both the coarctation and the BAV increases in a predictable way the connective tissue problem that leads to a greater possibility of aortic aneurysms and disssection. I've read and reread the material on the Bicuspid Foundation site, but I'm still unsure if the connective tissue factor naturally follows the others or not. I admit I worry about the possibility of a bulging aorta a lot more than I do of a narrowing aortic valve. With serial monitoring of the valve and knowing that there would probably be symptoms to raise a red flag as it gets worse, I don't worry about that as much as an aneurysm that could show NO symptoms. Having had a heart cath in October where my cardio looked specifically for aneurysms, I'm not worried at this point. But how diligent should I be and how often should tests be done to stay on top of it? It's always interesting to read the real life experiences of forum members as opposed to the theoretical possibilties in the web sites.

Oops, I've departed from the original poll question...

 

[aussigal]

i get my annie re-measured on the 20th feb Karen...and it was last measured in october and november ( had 2 measurements different Cardios 2nd opinion and all that stuff)

I am anxious to see if it has grown...and will also ask him if they noticed this 5 yrs ago and what it measured then!

I am on 6 monthly annie-watches! by Ct scan

 

[Karen]

i get my annie re-measured on the 20th feb Karen...and it was last measured in october and november ( had 2 measurements different Cardios 2nd opinion and all that stuff)

I am anxious to see if it has grown...and will also ask him if they noticed this 5 yrs ago and what it measured then!

I am on 6 monthly annie-watches! by Ct scan

Toni, it makes sense to have 6-month scans once you are aware that you have an "annie." How often would most cardios recommend just routinely screening for an aneurysm -- assuming they recognize that the BAV and aneurysms may have some genetic relationship. Does anyone know? Every 5 years? Every 2 years?