Genetic Basis for Bicuspid Aortic Valves

[Arlyss]

I want to share the following links with everyone regarding the latest research on the genetic aspect of bicuspid aortic valves. The first link shows the conference at which this was presented. And the second link goes directly to the article itself.
http://www.faseb.org/genetics/ashg/annmeet/2002/sess-57.shtml
http://www.faseb.org/genetics/ashg02s/f239.htm

There is, of course, some technical jargon here, but the key phrase is that their findings call for periodic screening of all first degree relatives in families where a bicuspid aortic valve has been found, including those whose valves appear normal. What they are finding is that the valve does not have to appear malformed - there is still a risk of this genetically-based condition affecting the aorta.
I know it may not seem like very good news, but by monitoring the aorta via echo I hope some lives can be saved.

Arlyss

 

[Rich]

Arlyss,
That is very interesting.
My grandfather died at 44, no one knew exactly why but that was many years ago.
I was born with a bi-cuspid aortic valve and of course had it replaced.
Now I have a grandson (my sons boy) who has a bi-cuspid aortic valve.
I have heard stories that this kind of thing can happen every other generation but no real evidence.

 

[richie rich]

your post is very interested. i had a bicuspid aortic valve. nobody knew until after the surgery was performed. i was told that there was some calcification on the valve. i had asked about my root and was told that it was a normal size and that they only replaced the valve. hopefully i will be fine until the next surgery in 20 years. i also need to take my two kids to see a pedatric cardiologist to get checked out. i have been avoiding this but will be making the appt soon before the end of June. i DO NOT want them to tell me that my kids have a defective heart. i saw my brother tonite and tried to convience him to go see my cardio. he brushes me off and tells me he is fine. very hard headed. oh well.

richie rich

 

[John Cochran]

Thanks, Arlyss, for this important article. It is not good news, but if it can save one of our children's or grandchildren's life, then it is better that we know about it.

My son and I both were born with bicuspid valves. My grandfather died (sudden cardiac death) in the 50's when he was still fairly young, so my guess is he may have had a bicuspid valve too. I have had my other kids checked, and no problems were detected.

I discovered a while ago that my surgeon and my cardiologist didn't always know about the most recent findings. I'm planning to forward this on to them.

This forum is great

--John

 

[Arlyss]

Some Examples

Some Examples

My husband is the only one that we can find in his family that was bicuspid. The cardiac issues in his family that we have found have been clearly linked to coronary artery disease, so it is possible that he was the first to experience this genetic "mutation". I do know a family that illustrates the genetic aspect very strongly in three generations of both men and women. And in one woman, the valve looks normal, but her aorta is clearly enlarged. I have also heard from several others with bicuspid valves that can identify an uncle, a grandfather, etc. who died suddenly with their heart.
At least with this emerging information families can proactively be checked. For past generations the diagnostic tools were just not there, but echocardiography today is a wonderful non-invasive tool when properly done and interpreted. However, since this is such newly emerging information, as John mentioned it is very important to share with your medical team who may not be aware. And to insist on being referred to those most expert with this condition.
Arlyss

 

[GregB]

Thanks for the link

Thanks for the link

Most interesting. The pattern sure fits with my family. I have had aotic repair and AVR age 56. My father died of "Heart attack"? age 39, his brother age 59 I think. Two cousins have died of heart illness but some serious lifestyle issues there.

Have not had time to study in detail but plenty to think about and will get back to it as soon as I have a moment.

This site sure is a wealth of information.
Thanks again
GB

 

[sylgeren]

Very interesting, I often wondered about this, Thanks for putting this on the forum. Sylvia G.

 

[Zipper]

A Question...

A Question...

I have understood the way valve problems are discovered is by the Doc hearing a murmur and going from there.

I am the only one, we know of, in my family to have had a murmur until my daughter's showed up. Both of ours were discovered in childhood thru routine checkups.

Since my other 3 children do not have murmurs, I wonder if it's prudent to assume they do not have valve problems ?????? They are all adults with no apparent ailments. Doc's have never suggested echo's for any except the one with the murmur.

Anyone??

Zipper/Joan

 

[John Cochran]

Joan,
The newest research on the genetics of bicuspid aortic valves (BAV) indicates that all your children should be checked, even if they have no murmer at all. The reason is that the the defect in chromosome 15q that appears to cause BAV can also cause aneurysms in the ascending aortic arch (AscAA) even with the aortic valve being normal. You may want to send a copy of this report to your children and they may want to give it to their physicians, since this information is not widely known within the medical community yet.

These next links (as originally posted by Arlyss) show the conference at which a report on genetic links to bicuspid valves was presented; the second link goes directly to the article itself.
http://www.faseb.org/genetics/ashg/...2/sess-57.shtml
http://www.faseb.org/genetics/ashg02s/f239.htm


--John

 

[Zipper]

Thanks John!!

I will follow up on this with the kids. Geez..just when ya think you've covered all the bases...sigh.

Thanks to Arlyss also for bringing this to our attention!

Joan/Zipper

 

[srwieland]

Very interesting! I too did not find out I had a congenital bicuspid valve until after surgery.

Since then, I have often wondered about the death of my Dad. He died in 1978 at the age of 63 of a supposed heart attack. However, upon questioning my mother and other siblings who were around him much more in the years before that (I was living overseas in that period), I have some suspicion that he may actually have died of heart failure resulting from a valve or aneurysm problem. In fact, although I was always told he died of a heart attack, his cause of death is actually recorded as heart failure, which is how one would die if they didn't get a valve replacement.

I'm certainly going to pass this info on to my relatives.

Thanks again all you heart buddies, and especially Arlyss for this one!

 

[Arlyss]

We Continue to Learn....

We Continue to Learn....

Trying to understand bicuspid aortic valves and the associated connective tissue disorder that affects the aorta has certainly been a journey for myself and my husband also. It was such a shock when his aortic aneurysm was found, because after his valve surgery we thought that with an artificial valve and monitoring his PT/INR, he was set for the remainder of his life! And since he felt well, exercised, and lived a normal life, that seemed to be the case.
With the aneurysm diagnosis, we learned that it was related to the same underlying condition as the bicuspid aortic valve. So at first I thought that an advantage, because my husband had a very loud heart murmur. And for those who have a murmur, that certainly can alert one to the condition. But then I learned that not all bicuspid valves are noisy, so one can't rely on a murmur to sound an alarm! And now we have learned that the valve does not even have to be bicuspid, the genetic abnormality may still affect the aorta!
It does make me wish for the day when there will be a test that can detect this genetic abnormality, and determine how severe it is. Until that time comes, everyone in families where this has been detected needs to be monitored.
Perhaps some of you remember the newspaper article that was shared on this forum about the young girl who died of an aortic aneurysm while waiting for the school bus. One wonders if a genetic condition was the underlying cause..... May we all do everything we can to keep our families safe.

 

[Arlyss]

Updating this Thread with More Current Information

Updating this Thread with More Current Information

Mary provided a link to this thread, and I want to update it with more current information to be sure that it remains helpful to anyone reading it.

First of all, at the time I wrote this no one else related to my husband had been diagnosed with BAVD. This is no longer true. In fact, one of the individuals who has been diagnosed has a BAV that was extremely difficult to identify clearly. The fact that this person is related to my husband and others in the family with BAVs and persistence with several of the very latest imaging capabilities made it possible to diagnose the valve. Typical screening would not have identified this person's bicuspid aortic valve, but other markers such as the labile hypertension and enlarged aorta are clearly there -which was my point in this thread - that one should look at the aorta, even when the valve may seem normal.

So, how does one feel confident that their aortic valve and aorta have been really looked at well? It is being clearly stated now that an echo can miss both a BAV and/or the enlarged aorta. If you visit the Bicuspid Aortic Foundation Medical Information page, you can view Dr. Isselbacher's presentation. He makes a very clear point that echocardiography fails to detect about 20% of BAVs. Echoes also may not "see" high enough to show the bulge of the ascending aorta - looking at the aortic root in those with BAV is not enough because the largest bulge may be higher than the root. An MRI or CT with contrast of the entire aorta, read and measured by an expert, is the only thing I would trust for myself or my loved one regarding my aorta.

I am aware of several people whose valves were proved in surgery to be bicuspid, even though they had been called "normal" based on an echo.

And while they are at it, I would want my brain checked for aneurysms also; it can be done along with the MRI or CT of the aorta in centers that are experienced in doing it. There are papers on the the Bicuspid Aortic Foundation Medical information page that discuss the BAV connection to brain aneurysms.

You will also find a link on the medical page that discusses the heritability of BAV. Here is the link to that page

http://bicuspidfoundation.com/Medical_Information.html

Best wishes,
Arlyss