Be Careful About Tests/Screening in "BAV" Families

[skeptic49]

To avoid the risk of early death, it is essential that all first-degree relatives receive echocardiographic follow-up at regular intervals regardless of the presence or absence of a BAV.

Good info! I've alerted my blood relatives but haven't heard if there have been any positives. We've had two sudden deaths in the family, both males in their 30s...happened decades ago so I don't know the actual cause of death, but remember reading that this is a question that some practioners ask when screening for BAV/aneurysms.

Jim

 

[Maryka]

Back when I was diagnosed as "Marfan" (early 90's) I alienated my brother's kids by suggesting they should all be screened for heart valve and aneurysm problems. I will never "live down" their jokes and snyde remarks. I suggest just mentioning to relatives that I was "told" my problems were hereditary and leave it at that.

I worry about people on this list whom I have seen who were told by doctors that they could exercise without restriction now that they had their bad heart valve is repaired or replaced and their aneuyrysm "fixed". Some of these people look very Marfan to my non-medical-license eyes. But I worrry, worry, worry!

 

[TXWildflower]

My wife is also wondering about doing the screening outside of insurance to circumvent the pre-existing condition situation for future insurance. I haven't thought that through. Anyway, we are going to seek expert advice on all of this before we proceed.

Bill, I don't know that this would work. I'm not in health insurance (Life Insurance, but there are some similarities in underwriting), but if you unfortunately discover that they do have BAV or aneurysm or something along those lines, I don't think you can deny knowing it on a health insurance application without lying - i.e. committing fraud. Plus the Medical Impairment Bureau keeps track of things like that and Insurance companies rely heavily on this info in their underwriting practice. The best way to avoid any pre-existing condition coverage issues is to never be without insurance in any form. i.e. no gaps in coverage. (or maybe Health care Reform?) Easier said than done with the costs these days, but even 'light' coverage will do to keep a continuing trail of being insured.

Very interesting info you've passed on Arlyss and other posters. I am in the category of one who they do not know if the valve is bi-cuspid or not -even a heart cath wasn't definitive. I'm told they may not know for sure until they go in to replace it. It seems to me so important to know. I don't have kids, but parents, siblings, nieces....

Rhena

 

[delvalle6]

I have four children. My son Sammy is the younger of a set of twins and has BAV, aortic stenosis, insufficiency, ventricle enlargement and his aorta is dialated.
Tomorrow I will be taking his twin and his younger brother for echos and the following week his older brother will go in. Let's hope they are all normal! I'd rather be the "one" family member that has an anomoly rather than any of my other boys. I have all sorts of "murmurs" and arrhythmias that my providers have just blown off--so I'm hoping for that. (the study says at least one other family member was found to have an abnormality)

 

[cbdheartman]

The genetics lab at Hopkins told me that my children have a 50% chance of having a predisposition to aneurysms. The lab also made clear that my children could have aneurysms without BAV. (And then there are those lucky people -- which I never knew existed, I'd always been told that with BAV I'd need surgery, who have BAV but never need surgery. I think the number is something like 2/3rds which surprised me.)

My daughter who is five is going to be checked in January with a baseline echo. I am trying to get my parents and sister to test soon as well.

 

[Lily]

I really appreciate the information in this thread. I'm finding it very interesting.

I'm just brainstorming here. . . But you know something else I've wondered about is related to whether a person is actually born with a genetically-malfunctioned bicuspid or not. When I first joined this site over six years ago, I thought that a bicuspid was a bicuspid was a bicuspid.

But there are evidently also a number of different types of bicuspids, some with three flaps or cusps, but two of them are stuck, stenosed or calcified, this way or that way, together. But when did they grow together, or become stuck together? (And what might have been the catalyst?)

So then, how many bicuspids might be misdiagnosed? How many "bicuspids" might actually have been more like regular aortic valve people but developing such heavy calcification they seemed to have become bicuspids or appeared to be genetic bicuspids? Wouldn't their families then be less likely to manifest similar traits?

The plot thickens.

Recently I dug out my op report (which I could barely look at when I was early post-op, it just made me feel ill to think about it all) and I read this description of my aortic valve: "The aortic valve was bicuspid in structure with fusion of the left and right leaflets. There was thickening of all the leaflets, producing severe aortic stenosis with rigid cusps and also a few areas of calcification in the annulus, especially in the junction of the left noncoronary leaflets."

So I guess my genetically malformed bicuspid had basically become a unicuspid. That probably explains why I was feeling so very ill and having all of the other heart problems, that happily resolved when the bicuspid was replaced with a wonderfully functioning valve.

And then I wonder too, could that be why I was also born with the coarctation? I once read (here) that possibly 15% of bicuspids have a coarctation. Could some of those others not have been bicuspids at birth? Might the "bicuspid" have developed later and might that be a different disorder?

There just seems so much more yet for the experts to learn about this "disorder."

 

[skeptic49]

There just seems so much more yet for the experts to learn about this "disorder."

You're right, Lily. In my case I knew from childhood that I had a heart murmur...but I was assured that it was minor and not to worry. Basically, that was good advice because I've been fine with my valve for almost 61 years. However, finding out recently that the valve is bicuspid, stenotic, and that I also have a dilated aorta was a surprise. One problem is that BAV can be difficult to diagnose. Two of my echo techs, one a cardiologist, missed it. It wasn't picked up until I had an echo done at a university hospital with state of the art equipment and a very experienced tech.

Jim

 

[davidswife]

murmur?

murmur?

Do all BAVs produce an audible murmur? I just spoke to a nurse at David's cardio's office about getting a baseline echo done on my kids. She said she would ask his cardio and get back to me. She called me back and said that his cardio felt that first I should see if their pediatrician hears a murmur. Could they have a BAV without a murmur?

 

[cbdheartman]

Not sure that murmurs can always be heard

Not sure that murmurs can always be heard

This is obviously anecdotal, but my father-in-law and brother-in-law, both doctors, could not hear my murmur this summer before my surgery. My father-in-law has caught murmurs numerous times doing school physicals. My surgeon said that he believed the murmur that doctors heard when I was young was a benign murmur and I got lucky that this sent me for follow-up and led them to find the BAV. He was saying that because the murmur was so slight. I also recall that residents/fellows who accompanied my childhood cardiologist had difficulty hearing my murmur.

In short, I don't think BAVs always result in a murmur that will be caught.

Do all BAVs produce an audible murmur? I just spoke to a nurse at David's cardio's office about getting a baseline echo done on my kids. She said she would ask his cardio and get back to me. She called me back and said that his cardio felt that first I should see if their pediatrician hears a murmur. Could they have a BAV without a murmur?

 

[Arlyss]

Bicuspid aortic valves do not always have a murmur. It is possible to have a BAV that cannot be heard at all.

Regarding when to check children, I have heard different opinions. If there are no obvious symptoms, some recommend that children need not be checked until they finish high school.

However, if I were making a decision regarding my own child, I would have them checked. One of the main reasons for this is that I would want to know if they are at risk of developing endocarditis. If the aortic valve is abnormal, there is greater risk of endocarditis, and I have read that the risk is higher in the young.

A little boy developed a fever and head ache, and no one knew that he had a BAV that put him at risk for endocarditis. What happened to this child is the reason that I would screen in childhood, even if no murmur is heard. If BAV is present, I would want to know so that any hint of infection would be taken seriously and treated aggressively.
Here is his story
http://bicuspidfoundation.com/Memories_of_Sahib_Singh_Vaseer.html

Best wishes,
Arlyss

 

[COLLEEN S]

My BAV dx'd in 1989, at age 27. My regurgitating aortic valve in 1992. My Ross was done in 97. My aortic aneurysm dx'd in 1997, surgery and AVR done Aug.'08.
May of this year, my mother dx'd with aortic aneurysm in the same place as mine. My father had bicuspid valve disease, as do I. He had 2 aneurysms, one of the brain, the other of the abdominal aorta. He died on the table from the AAA. Think it runs in my family? (sarcasm intended)