BAV related to aneurysms?

[PJmomrunner]

The following link will give a good overview of the BAV: http://www.emedicine.com/ped/topic2486.htm The aforementioned article does suggest that there are occasional instances of acquired BAV following infective endocarditis, but PubMed searching reveals only one 1973 reference.

Recent research points to BAV being a highly heritable (89%) genetic trait.(1) Other research suggests strongly that BAV is an autosomal dominant trait with reduced penetrance. (2,3) Autosomal dominant inheritance means that the gene carrying a mutation is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally likely to inherit the mutation. "Dominant" means that having a mutation in just one of the two copies of a particular gene is all it takes for a person to have a trait, such as BAV. When a parent has a dominant gene mutation, there is a 50 percent chance that any child he/she has will also inherit the mutation.

There are four possible combinations in the children. Two of the four, or 50 percent, have inherited the mutation. The other 50 percent have not inherited the mutation. These four combinations are possible every time a pregnancy occurs between these two individuals. The gender of the children (whether they are sons or daughters) does not matter. The chance is 50/50 for each pregnancy.

An important characteristic of dominant gene mutations is that they can have variable expression. This means that some people have milder or more severe symptoms than others. In addition, which systems of the body the mutation affects can vary as can the age at which the disease starts, even in the same family. Another important characteristic of dominant gene mutations is that in some cases, they can have reduced penetrance. This means that sometimes a person can have a dominant mutation but not show any signs of disease. (3)

As I believe you stated in another post on this thread, why one has BAV probably doesn't matter much, except in the case where believing that it is acquired prevents one's first-degree relatives (parents and kids) from being checked. And as for your dad's valve being a "fused trileaflet," every description I have found of bicuspid valves describes a fusion of 2 of three leaflets. One leaflet is usually small and the other is a conjoined version of the other two, with three sinuses.

I'm glad you're talking to surgeons. Most here, as you've probably discovered, believe they are the go-to-guys.

Good luck.

P. J.

My references:
(1) http://www.ncbi.nlm.nih.gov/entrez/...&dopt=Abstract&list_uids=15234422&query_hl=15

(2) http://www.ncbi.nlm.nih.gov/entrez/...d&dopt=Abstract&list_uids=9385911&query_hl=18

(3) http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=87

(4) http://www.healthsystem.virginia.edu/uvahealth/hub_cancer/adi.cfm

Great discussion. My dad had "BAV" and and AVR at 74 about 2 years after I was diagnosed with BAV. But the surgeon said his was a fused trileaflet. Later another cardiologist thought my echo looked like a fused trileaflet. It is my understanding that the fusing is caused by some damage to the surface layer and the normal healing process causes calcification or fusing of the leaflets. That also may be the reason why some "BAV" are not congenital e.g RF, or fen-fen diet drug or perhaps inflammation where the base of the leaflets rub when inflammed (think of the donut hole shrinking when it becomes inflammed and the bases of the leaflets rubbing due to the tighter fit),,...

However, I think it is difficult to distinguish between congenital BAV and subsequently environmentally induced fusing just by an echo when caught at a late stage. Perhaps only after surgery do they really know.

But just the same, if the jet stream of the stenosis can weaken the aorta when your peak gradient exceeds a certain level - in my case over 70 mmhg then it seems we should be managing our blood pressure as a preventative effort and go to surgery sooner than is often recommended. I'm on no BP medications. One of my cardiologists feels I should avoid surgery until symptoms appear - perhaps a year or so from now despite the latest echo showing 0.7 cm2 and 70mmhg peak. I'm talking to surgeons now regardless of his recommendations.

Bobco

 

[jax3172]

Getting the kids tested!

Getting the kids tested!

Thankx PJ - really good information. As a result of this thread, I will strongly recommend that my three adult children get echos done by competent cardiologists. Chances are 7 out of 8 that I've passed the mutation on to one of them. I hope that if I did, none of them shows positive for BAV.

By the way, I had my CT Scan with contract today and I will have my first visit with Dr Bavaria (aortic surgery specialist) at U of Penna bright and early Tuesday AM, 7/5. Thanks to this forum, I feel that I am going in with a truckload of knowledge that I didn't have about 3 or 4 weeks ago. Thank you all for both teaching me and pointing me in the right direction to obtain that knowledge.

 

[PJmomrunner]

I have thoroughly enjoyed this thread, Jax. Thanks for beginning it.

My teenage children have both had echos and I have been told they are negative. I strongly want to believe they are truly negative, but because I have not had them viewed by an aortic specialist, I can't be completely sure. I have gotten copies for a baseline comparison should they ever develop problems. My dad told me (today, actually) that he mentioned my aneurysm to his doctor and his doctor immediately ordered an abdominal echo, which is impressive (didn't even wait to send him to the cardiologist). The only thing that disappointed me was that the doctor assumed that since my dad had had heart echos his thoracic aorta had already been checked and I know that is not necessarily the case. I had a heart echo that revealed neither the BAV nor the aneurysm. Next is mom's turn.

Good luck at the surgeon's.

P. J.

 

[Mary]

We've had two of our children checked for a bicuspid.
One was a no go
The other is affirmative. He goes for his annual echo next month.

 

[jax3172]

Back at ya PJ

Back at ya PJ

This is too interesting. I talked to my first cousin (mother's side) about an hour ago and he reminded me that two of my mother's brothers died from aneurysms! Weak arteries! I think I may know which side I got this from!

Not that all BAV patients have all the related stuff but I guess the only thing one can do to minimize the risk of artery problems is eat healthy, exercise, and keep your blood pressure low. I'm sure there's no "silver bullet" to toughen up those artery walls.

 

[char2mar]

I just found out that my half sister had a BAV. She did not grow up with me nor did I know of her existance until 2 years ago when my biological Father passed away. Her BAVD is more severe than mine. She had a valve repair at age ten. A replacement at age 14, and one other OHS during her twenties. (Not quite sure what, second hand information) So I now know who passed this mutant gene down to me. My identical twin sister apparently does not have a bicuspid valve. She has had two echos to confirm this, however all four of her valves leak. She has mild aortic regurgitation, trace mitral and trivial plumonary and tricuspid regurgitation. As for her aorta??? I would like a measurement on that because if it is normal as in no dilation than I basically have a actual measurement on what is the normal size for my aorta. I will have to have her ask her doctor for a copy of both echos. Wow....I just thought of that...lol....I have a duplicate of me with a normal heart....now I have comparison values ....tooo cool. So if her ascending aorta is say...2.5 cm and mine is 4.0 cm than perhaps waiting until my aorta is 4.5 cm to 5.0 cm may not be a good thing. We have been confirmed as identical....same blood type, same DNA....had to be tested because Cystic Fibrosis runs in the family...So I am curious as to why her valve formed normally and mine did not. She says she got better groceries in the womb than I did...but I don't buy that. Perhaps she has a BAV but it is not as obvious as mine. ???? Perhaps we should donate our bodies to science....nature virus enviroment....lol. Anyways just thought I would add to this post....BAV does run in my family....too bad I don't know more about my Father's side of the family. Guess it is time to start.

Char...