BAV hereditary?

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Bicuspid is associated with coarctation, which is in turn associated with brain aneurysms. However, if you have BAV without coarctation then your chances of having brain aneurysm are the same as everyone else. That's what I was told anyway.
 
elirn said:
There is a hereditary link to BAV. Which is especially true of those with connective tissue disorders.

I am the only person in my family that had a BAV. Sometimes I think it is just bad luck or some sort of embryologic error. :p
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I'm the only person in my family that had BAV too. It is definitley an embryologic error anyway since the 'fault' occurs during the third week or so in the embyo's life when the heart valves are forming. I don't think they've yet discovered a gene on which the fault is carried. I wonder if it can also be caused from other problems during such an early stage of pregnancy ?
 
I don't know of anyone else in my family with BAV, however, there were two instances of early sudden death of male relatives in their 30s decades ago. I remember filling out cardiac-related questionnaires that asked about this phenomenon. BAV related sudden death was probably not recognized for what it is that long ago.
 
I'm one who was told he had it, then told he did not. Having an echo, which must go through ribs and lungs, can easily be distorted. Coupled with a distracted sonographer and an older or out of calibration machine it is not that rare to misdiagnose. If you go for an echo do not tell the sonographer you have a bicuspid or your root is 4.8 or anything that will give her/him any information. That is my opinion. I had at least 12 echos and all of them failed to see the three leaflets. Then I had a almost graduated student test me (supervised by an experienced person) and when I asked he towards the end about some of the numbers she said I had a lot of regurgitation. I asked her about my bicuspid and she said I did not have a bicuspid and showed me how it was three-leafed. I could clearly see the mercedes benz logo myself. Anyway, that was really fortunate. I am now scheduled for repair, with a valve replacement if necessary rather than a valve replacement alone. I like to think that if the surgeon saw it was not bicuspid when he cut into it he would have called an audible and tried to repair as well, but I am glad she saw it. That caused me to have a CAT and TEE which confirmed I did not have BAV.
 
Longevity does not mean an absence of BAV, it could just mean the person was lucky. A study I read awhile back on people known to have died from untreated BAV, the age range was from late teens to the 80s with the median at 55.
 
tom in MO said:
Longevity does not mean an absence of BAV, it could just mean the person was lucky. A study I read awhile back on people known to have died from untreated BAV, the age range was from late teens to the 80s with the median at 55.
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Yes, probably some people with BAV live and die without knowing they had it. So there must be degrees of BAV ?
 
Anne, I imagine the degrees are the ones that leak and the ones that don't. And the ones that leak, but maybe not too badly. Stenosis is a mystery to me as it's a bit counter-intuitive. ;)
 
river-wear said:
Stenosis is a mystery to me as it's a bit counter-intuitive. ;)
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If you look at the different ways the bicuspid valve leaflets are fused: https://uk.images.search.yahoo.com/...p=image&fr=yfp-t-903&va=bicuspid+aortic+valve it can be seen that the valve can't open fully as in a normal tricuspid valve and that leads to a degree of stenosis in itself, some worse than others, and then, because of the turbulent blood flow caused by the way the valve doesn't open fully, calcification builds up leading to more stenosis. At least that's my understanding of it !
 
This is the subject I was trying to get more information about from my meeting with my surgeon. I was curious if the BAV not opening all the way makes it harder for the heart to pump and does this have a detrimental effect long term. I was curious about pressure gradient comparisons between a well functioning non stenotic BAV and a mechanical valve but he didn't get too deep into it other than to say he thinks my mildly leaking non stenotic valve repaired would be better than mechanical. As I'm 45 I was curious if he was just thinking about the next 10 years or long term.
Paleogirl said:
If you look at the different ways the bicuspid valve leaflets are fused: https://uk.images.search.yahoo.com/...p=image&fr=yfp-t-903&va=bicuspid+aortic+valve it can be seen that the valve can't open fully as in a normal tricuspid valve and that leads to a degree of stenosis in itself, some worse than others, and then, because of the turbulent blood flow caused by the way the valve doesn't open fully, calcification builds up leading to more stenosis. At least that's my understanding of it !
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As for whether it has a detrimental effect over the long term, the thing most quoted from surgeons is the importance of operating on a stenotic valve before the left ventricle enlarges too much and before the heart muscle "bulks up" too much. If either of these take effect, once the valve is replaced, the heart may not be able to remodel back to its normal size. This residual enlargement or muscle thickness may cause the heart to not be able to pump at normal efficiency, restricting the patient's abilities for the rest of their life.

This is why many members here favor the opinion that it is better to operate a little bit too early than to wait until too late.
 
Thanks for the info, They say my LV is borderline large even though my valve shows no sign of stenosis. It was put out there that this is possibly because I used to work out a lot in my past and that could also be why my heart rate is normally in the high 50's at rest but to be honest over the last few years I probably spent as much time at happy hour as in the gym.
I can understand the idea of getting surgery sooner rather than later but that's one of those things I imagine is easier said than done. I guess that's one of the things to keep in mind assuming I go with repair- if it gets stenosis down the road ( hopefully not ) I'll have to have the stones to goin for op #2 before it's too far along.
epstns said:
As for whether it has a detrimental effect over the long term, the thing most quoted from surgeons is the importance of operating on a stenotic valve before the left ventricle enlarges too much and before the heart muscle "bulks up" too much. If either of these take effect, once the valve is replaced, the heart may not be able to remodel back to its normal size. This residual enlargement or muscle thickness may cause the heart to not be able to pump at normal efficiency, restricting the patient's abilities for the rest of their life.

This is why many members here favor the opinion that it is better to operate a little bit too early than to wait until too late.
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river-wear said:
I found an article about the "types" of BAV characterized by which leaflets are fused. Lucky me, mine was the kind (R+N) that is "high risk." However, I did get 46 years out of it so maybe it's not so bad. I just hope that the problems with it are behind me now... really hope. :eek:

(Here's the article: http://drsvenkatesan.wordpress.com/2011/09/27/which-is-the-commonest-type-of-bicuspid-aortic-valve/ )
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That is such an interesting link Michele ! I looked at my operation notes and it says my bicuspid valve was fusion between the left and right coronary cusps but it doesn't says whether "raphe" was present or not.
 
Been doing some more research - your finding intrigued me Michele !

I found a more extensive study on the different types of bicuspid aortic valve cusp fusion - no drawings unfortunately - here: http://www.hindawi.com/journals/crp/2012/735829/ This study also seems to suggest that the majority type with R and L fusion affects flow mechanics in a "particularly devastating manner". I would guess that there is still a lot of research going on. The authors of this study mention certain genes so it would seem they are activiely looking for the genetic causes of BAV.
 
Hi Anne, I'm glad you found that interesting. I did too. After reading your new link, it appears that the "common" (R-L) type of BAV is more apt to have issues with an aneurysm. The other article (as I read it) implied that my type of valve tends to degenerate more quickly. I suppose the differences are based on our development as an embryo, which lead to the particular type of BAV we have. And maybe that's due to genetics.
 
I don't suppose that they can't easily tell which of the cusps are fused until surgery ? My bicuspid valve was first heard when I was 25 but I managed to make do with it till I was 60.
 
I don't think TTE or even TEE images are good enough to know. It took the TEE to even have the bicuspid diagnosis confirmed. Before that, it had been reported as "probable" for many years. I had a CT angiogram before surgery, but I don't know if they could tell from that. Then there's a heart cath or MRI that maybe could provide better images.
 
elirn said:
So embarrassed, but my intent was to suggest that BAV may be an idiopathic error in some cases.
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No reason why you should feel embarrassed elirn ! Even though it's genetic, some genetic faults happen spontaneously and are not always inherited. Because of the absence of heart related deaths in my family it always crossed my mind that my BAV was an idiopathic error (when my mother was about three weeks pregnant with me she got "something" from a doctor to "bring on her period" - I wonder what that "something" was and whether it could have caused "damage" since it was meant to stop a pregnancy, and three weeks is the stage of embyonic heart valve development).
 
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