BAV hereditary?

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anne casey

Well-known member
Joined
Mar 10, 2011
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48
Location
usa
Sons cardio. Says that it is hereditary. But wondering if others have found this to be true? My first cousin had this before his AVR. My mother(his aunt) had AVR years after his, now my son (her grandson) is in th severe status! I was tested and was told I'm negative, but my sons cardio. Comments every time at my sons appointments that he is highly suspicious that I have it too and that it is mild and didn't show up on the echo. Now I'm wondering if I should be retested? I've heard that it can skip generations. I get tired out, get out of breath when I do a lot of physical activity...certain ally not in shape, and get lightheaded when I get up quickly at times....but what working mom doesn't get tired out easily? Don't know if I'm stressed and that's why I'm more aware of these symptoms or of if it is a sign that I have it too. Just seems like my life revolves around going to BAV appts. Already with my mom and son.
 
Hi Anne, it seems to run in some families. I'm the only one in mine that has it. I'd never even heard of it before.

I'd get myself tested again, but I wouldn't have thought that seeing a BAV on an echo would be that subtle. You either have it, or you don't. They say that two thirds of people with BAV never have problems. If your symptoms are caused by stenosis, this should show up in your 'numbers'.
 
I can't be sure, but I think it runs in my dad's side of the family. My dad and two of his sisters passed away 25-30 years ago from heart ailments that shared many of the symptoms of untreated aortic stenosis. I developed aortic stenosis in my 50's and had my valve replaced in my early 60's.

My theory is that 25-30 years ago, many patients either didn't have the quality of diagnostic care we now have, or simply chose not to try to replace the valves because they were afraid of the mortality rate of the surgery or of the cost.
 
Hi Anne

I have it but not aware of anyone else in my family who has it. Both sets of my grandparents are in old age. My mother son and brother had echos and they don't have it either.
 
No one else in my immediate family has BAV or aneurysm and no one in my extended family that I know of (and I've asked). Although I have a BAV I have never had any symptoms, in fact I was always very good aerobically. Ran a couple races and a marathon before knee trouble, then I switched to biking and swimming, which I still do.

Regarding testing, I have read of people that were told they do have BAV and then don't (or vice versa). There are limitations on the accuracy of the echo. As to whether your symptoms could be related and you should be retested is a question for your Dr. It could be nothing or it could be something besides BAV. If you are retested, probably more important than how many leaflets your valve has is how well it is functioning. If it is causing your symptoms I would expect there would be clear evidence of problems on an echo.
 
From what i've read there is no direct genetic cause known. However there is a statistical relationship between first degree relatives (e.g. Son, sister.). My doctors have said there is no need for testing though. Others have been told differently.I don't believe insurance companies in the US will pay for an echo based upon the current studies.
 
I had BAV. My grandmother died from heart valve related problems at age 84 but I have no idea what the issues where. No one else in my family has BAV That I know of. I have known all my life that I had a murmur and was always told it's no big deal not to worry about it. At age 47 I was diagnosed at age 48 I had valve replacement. Three months later I started having all kinds of weird problems with my ears and other stuff and was recently diagnosed with a connective tissue disorder now at age 52 I'm going in for my second AVR.

Sent from my SPH-L720T using Tapatalk
 
That's what I was told when diagnosed - and later found I have a younger cousin also with BAV. I was also strongly encouraged to have my children get looked at when they're older.
I had a grandfather die of heart-related issues, after having two aneuryisms repaired (not at the same time, a few years apart.) While sharing this piece of family medical history with the cardiologist, he suspected BAV with him also. Not sure what he was basing that on, other than the fact that my aneuryism was valve-related.

@Anne - interesting that you mentioned that your son's cardio mentioned that he thinks you have it, and that it didn't show on echo because it's mild. I find that puzzling - when they suspected me for it, they did the echo, and when I revisited the cardio for the results, he showed me the actual valve in operation (recorded video from the echo). I could actually see the two flaps working.
So, not sure what he means, maybe they didn't get a good angle view on your valve, just measuring the regurgitation?
 
None of my living relatives has BAV. I've checked back as far as great grand parents and cousins and none of them died from heart related issues.

I've always wondered if there could be other causes. I discovered in a letter my mother had written to my father when they were just engaged that she had something prescribed for her by a doctor to bring on a period not long after I was conceived, roughy at the point when heart valves are developing in the embryo (this was the 1950s and they didn't want to start a family so soon). I wonder if whatever she was given could have interfered with that developmental process ?
 
I have it. I have five children. Two of them officially have a very mild presentation of BAV (two leaflets partially fused), but are functionally normal. Far different than what I delt with growing up, but present just the same. They go in every year (older) and every other year (younger) for echo's. They have not been placed on any limitations and if it weren't for family history - a routine physical would not have detected it. No murmurs in any of my kids.

Prior to me, no members of my extended family even had open heart surgery for a bi-pass, let alone a valve replacement. However, my grandfather was one of 10 children, and most of the seven boys died around the age of 80 due to congestive heart failure. In hindsight, I would have like to see autopsy results, but my family was not very supportive in my desire to know more (would not submit to echo's or any other testing when asked even though free as a part of a study).
 
I have it, diagnosed last August. My 8 yr old daughter had an echo back in January and she is clear.

My grandfather, on my mother's side, died suddenly of a heart related condition at age 74 but no one seems to know exactly what the condition was he had, this was over 30 yrs ago. His two sons, my mother's brothers, both had heart attacks in their mid 30's/early 40's. The eldest brother died about 5 years ago in his 60's of prostate cancer. Due to whatever heart condition he had they could not conduct chemo so unfortunately in his situation it was either the cancer or his heart that was going to cause the eventual outcome.
 
I have BAV, just found it, Nov 2013. No one else has it yet. Though my grandfather died of a heart related issue and my father had congestive heart failure and died at age 52.
My daughter had a different congenital heart defect called Ebsteins Anomaly.
And incidentally I took my 8 year old to be checked this week , he was clear for BAV but they found a small hole in his heart! I have one more child to have checked.
 
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
 
Seems there is so much still unknown around the whole genetics of BAV.

I was diagnosed at 23 with BAV and have had two subsequent AVRs at 23 & 30. Aortic Aneurysm also.

On my fathers side, my grandmother (80) and two Aunts (40&60) both died of Brain Aneurysms. I have two cousins on same side with cardiomyopathy.

On my mother's side, I had an uncle who had an MVR at 60 and a grandfather with a leaky valve. Guess I was always doomed!

Seems that when it comes to BAV there are different mutations of the same gene, therefore it can effect people in different forms. Some people with BAV can be totally asymptomatic with no valve problems,
but possess a deadly 'sleeping aneurysm'. Some would also argue the link between BAV and Brain aneurysms, but where do you draw the line!
 
was told my aortic valve stenosis was genetic. my aunt had it ...operated on ..passed t 84, uncle had it too, operated on , passed at 89 and second cousin had it ..passed away..but that took place 50 years ago. my cousin has just discovered a heart murmer as that is how i found out. i have passed this information to my children. my date is July 17 and am nervous for sure.
 
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