Family planning

[Mike Eichhorn]

Hello all,

Mathias' condition was deemed congenital (Ascending Aortic Aneurysm, BAV), and I am wondering if anyone has insight into family planning around these genetic issues or has gone through it all and their kids are just fine? I know it really scares us both to think of having a kiddo go through all of this crud, but we have always wanted a family. Is there anything we/I can do to help prevent this from happening to my future children? Should we plan to not have children at all and explore alternatives? Should I consult a genetic counselor? Any advice or experiences would be so helpful. Just talking with you all is so helpful. I'm so grateful to have found this platform.

With our marriage pending (probably less than a year!), I want to start the kids discussion with doctors now and make sure all of our ducks are in a row before we do start trying.

Thank you in advance!
Jill

Hi Jill,

I found out last year that I had a BAV and Ascending Aortic Aneurysm. Had repair and Bovine valve last May. I am 50 and have three children 12,15 and 17. I did not know I had a BAV and have lived a very active life. Many physicals and check ups through youth sports and never had an issue. Found out accidentally through a Calcium CT scoring.
All three kids have been checked and do not have BAV. I would say live your life with joy, faith and confidence that if you are blessed with children, they will be just fine.

 

[LoveMyBraveHeart]

Great quote! Are you going to screen for everything that could go wrong? I had BAV, but have a child with Down syndrome. I have 3 more daughters and one has connective tissue issues and one is hypo thyroid and one rides horses. If you are that scared, I would consider not having kids until you are truly ready to deal with life.

Thank you for your input. I was merely asking because I like to plan. I understand that things come up and I cannot prepare for everything, nor do I want to. I am not "that scared"--simply asking for others' experience in the matter. If I had the opportunity to delete my original post, I would as many here have made it seem silly of me to even bring it up. Perhaps it is.

 

[LoveMyBraveHeart]

Hi Jill,

I found out last year that I had a BAV and Ascending Aortic Aneurysm. Had repair and Bovine valve last May. I am 50 and have three children 12,15 and 17. I did not know I had a BAV and have lived a very active life. Many physicals and check ups through youth sports and never had an issue. Found out accidentally through a Calcium CT scoring.
All three kids have been checked and do not have BAV. I would say live your life with joy, faith and confidence that if you are blessed with children, they will be just fine.

Thank you. I realize my asking this question has come off as silly to some, and am only asking for suggestions and experiences of others because this forum seems full of supportive, non-judgemental people with a wealth of knowledge. Thank you so much for providing your experience. We did not know of Mathias' condition either until 4 months before surgery, and maybe that was a good thing.

 

[Agian]

It was a very reasonable question. If anyone was judgmental, they're the ones being silly. Knowledge is power.

 

[Duffey]

It was a very reasonable question. If anyone was judgmental, they're the ones being silly. Knowledge is power.

I think the replies were meant to be reassuring and not judgmental, but I agree with Agian, your question was reasonable.

 

[Protimenow]

Count me in, too. I didn't think it was a silly question. You were concerned, so you asked.

And I'm sure you didn't think it was silly when you asked it. So, now you have the sage wisdom of this assembled mass.

 

[dornole]

You guys actually planned this really well for him to have the BAV instead of you ... no impacts on the childbearing body. How you build your family is really personal of course and no wrong answers but personally I’d say go for a pregnancy if you want to, when you’re ready, without possible BAV being much of a factor. It might not even transmit at all, if it does it might never require intervention, and if it requires intervention it probably will have a good outcome in the end. I’d screen the kids to have good info on the need for monitoring. Hugs.

 

[mina]

You guys actually planned this really well for him to have the BAV instead of you ... no impacts on the childbearing body. How you build your family is really personal of course and no wrong answers but personally I’d say go for a pregnancy if you want to, when you’re ready, without possible BAV being much of a factor. It might not even transmit at all, if it does it might never require intervention, and if it requires intervention it probably will have a good outcome in the end. I’d screen the kids to have good info on the need for monitoring. Hugs.

Ha! You make a good point. But for those who read this and wonder about pregnancy with a mechanical aortic valve, it is possible (although requires close care by MFM doctors and is pretty risky). I had two children on a mechanical aortic valve (not what I would have chosen, by any means, but I ended up with endocarditis at a young age before I even knew I had a BAV).

As for the original question, both my children have been screened for BAV and do not have it. It's a really common condition, though - 1-2% of people have it. Everyone here offers good advice.

 

[Mike Eichhorn]

Thank you. I realize my asking this question has come off as silly to some, and am only asking for suggestions and experiences of others because this forum seems full of supportive, non-judgemental people with a wealth of knowledge. Thank you so much for providing your experience. We did not know of Mathias' condition either until 4 months before surgery, and maybe that was a good thing.

Not silly at all. When I found out that I had BAV, I was very concerned for my kids as it has proven hereditary. These forums were VERY helpful for me. I have asked so many questions here and other forums of people who have BAV. People have been wonderful and supportive.

 

[AZ Don]

You could have genetic testing. They could advise about the risks, which probably depend on the test results. When I was diagnosed with BAV and aortic aneurysm I did. There are some known genetic anomalies associated to BAV, but I didn't have those. My 3 children were tested as well as my mom and sister with no problems found

 

[dornole]

Very true mina! Good to have it down here for posterity that maternal valve issues are tricky but workable depending on your situation and choices. Myself, my valve issues were first discovered when I was 27 weeks pregnant with twins and it was seriously sketchy. But it all worked out beautifully in the end.

 

[Astro]

This genetics questions is important for nearly all of us. Whether you have children, thinking of children, have siblings or parents, the risk of BAV is important. I had a quick look at the literature to try to get some numbers.

About 1-2% of the general population has a BAV. There is a 2018 journal article called, "Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives". If you Google search, you will find that it is a free journal article. According to this article:

First degree relatives (children, siblings, parents) have a 6.4% chance of having a BAV. It is 9.2% for male relatives and 3.5% for female relatives.

For a person who has BAV with aortic dilatation, this article found no definite increased chance of relatives also having a dilated aorta. Hopefully this is rather reassuring.

What does it mean if a relative has a BAV? This forum is based around valve replacements so I think that we see a skewed image. From what I have read, maybe a third of people who have a BAV, never develop aortic valve problems. Most people have their BAV replaced after the age of 50. Considering how fast technology is developing (for example, the through the groin valve replacements - TAVI), it is likely to be less of an issue in the future.

The question that I find difficult is whether you should test your children. I have three children. We scanned one child because we were concerned about his growth. He has a normal valve . I'm thinking of letting the other two make their own decision when they are adults. The insurance ramifications of knowing that you have a BAV are important. It might be better to sort things like income insurance before being tested. I also worry about the child stressing for decades about their valve. What do you think about testing children?

 

[tom in MO]

This genetics questions is important for nearly all of us. Whether you have children, thinking of children, have siblings or parents, the risk of BAV is important. I had a quick look at the literature to try to get some numbers.

About 1-2% of the general population has a BAV. There is a 2018 journal article called, "Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives". If you Google search, you will find that it is a free journal article. According to this article:

First degree relatives (children, siblings, parents) have a 6.4% chance of having a BAV. It is 9.2% for male relatives and 3.5% for female relatives.

For a person who has BAV with aortic dilatation, this article found no definite increased chance of relatives also having a dilated aorta. Hopefully this is rather reassuring.

What does it mean if a relative has a BAV? This forum is based around valve replacements so I think that we see a skewed image. From what I have read, maybe a third of people who have a BAV, never develop aortic valve problems. Most people have their BAV replaced after the age of 50. Considering how fast technology is developing (for example, the through the groin valve replacements - TAVI), it is likely to be less of an issue in the future.

The question that I find difficult is whether you should test your children. I have three children. We scanned one child because we were concerned about his growth. He has a normal valve . I'm thinking of letting the other two make their own decision when they are adults. The insurance ramifications of knowing that you have a BAV are important. It might be better to sort things like income insurance before being tested. I also worry about the child stressing for decades about their valve. What do you think about testing children?

I read an Italian study about deaths from BAV collected from autopsies. The ages of death were 18-80 with the median at about 55. Although you may think that most BAV patients need surgery after 50, this is not the case with deaths. These people died due to BAV that was undetected. Due to this information, I believed it to be important that my children get tested. They had it done as adults, but while still on my insurance, so I paid for it. You don't want your children to die of "sudden death syndrome" just for lack of exercising your insurance. If they have a BAV, they then know that they have to pick a path in life that will allow them to have stable comprehensive insurance.

 

[Astro]

I read an Italian study about deaths from BAV collected from autopsies. The ages of death were 18-80 with the median at about 55. Although you may think that most BAV patients need surgery after 50, this is not the case with deaths. These people died due to BAV that was undetected. Due to this information, I believed it to be important that my children get tested. They had it done as adults, but while still on my insurance, so I paid for it. You don't want your children to die of "sudden death syndrome" just for lack of exercising your insurance. If they have a BAV, they then know that they have to pick a path in life that will allow them to have stable comprehensive insurance.

That is a good point, thanks tom.

 

[pellicle]

That is a good point, thanks tom.

one may not wish to rely on this, but a BAV normally presents a murmur ... this is frequently picked up in medical checks. Indeed it was how I was diagnosed in the early 70's

 

[Astro]

Likewise my BAV was picked up by a murmur. I consider myself very lucky to have it discovered this way. Most people have no reason to have their heart listened to. I agree that the absence of a heart murmur is not a reliable way to exclude a valve problem. Maybe I should get my other two kids scanned.

 

[pellicle]

... Most people have no reason to have their heart listened to.

and yet today its almost inevitable

 

[Protimenow]

and yet today its almost inevitable

Mine was picked up when a medical student at UCLA heard a murmur. This shouldn't be a good explanation why THIS STUDENT heard the murmur. I was diagnosed with Rheumatic Fever when I was an undergrad, at UCLA, and just over 20 years old. I took penicillin for a year. I fantasized about telling girls that I was 'sterile' and getting more dates, but never tried it. But, you would think that, if the possible diagnosis of Rheumatic Fever wasn't enough to get them to take a close listen to my heart, nothing would.

I think my kids, knowing about my BAV, have had their hearts checked. Apparently, they didn't get dad's BAV.

 

[tom in MO]

one may not wish to rely on this, but a BAV normally presents a murmur ... this is frequently picked up in medical checks. Indeed it was how I was diagnosed in the early 70's

Don't know what you mean by "normally presents a murmur". Each of us is different and with a death range from 18-80 for BAV, not sure what "normal" is. I just had my cariologist appointment and asked about BAV and related tissue connective problems since my father had an abdominal aneurysm. I was told there is no "normal" different people get different problems with BAV (e.g. stenosis vs. endocarditis) and its related problems such as aneurysms.

Murmurs can be for things other than a BAV and BAV can be present w/o a murmur. In some people with BAV, once it starts to murmur, it has become dangerous but has been there all along. In the days before imaging, murmurs were the only clue and doctors would try to guess what the problem was by the type of murmur. It didn't have as high a success rate as imaging

I had a congenital heart murmur that disappeared for a year or so in my 30s. Nobody knew what it was but I was told to not worry about it since there were no symptoms. Then the murmur came back and then they invented the echocardiogram and I learned about BAVs.

At my cardio appointment today, they asked if my children had been screened and said "Good" when they heard it was done and was positive.

 

[pellicle]

Don't know what you mean by "normally presents a murmur".

As I said it may not be reliable, perhaps you missed that. It was my understanding that apart from edge cases BAV can be identified by it's sound through the stethoscope, normally (or on average). I got this impression from being told this over decades by experienced surgeons.