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J

jade100

Member
Joined
Jun 30, 2012
Messages
14
Location
Uk
Hi all, im just wondering if any of you out there who had abnormal heart valves and ascending aorta dilation have ever been told to check yourself with a geneticist before having children? I had the Bentalls procedure in July, which means I have a mechanical aortic valve now and a new ascending aorta.
We are thinking of starting a family soon and am worried that this can be carried on to our children. The words ‘connective tissue disorder’ have been thrown around by the surgeon but the cardiologist didnt think we needed to concern ourselves with letting this affect our future baby plans, and the surgeon has discharged me and no more was said on the matter. This seems to me to be conflicting advice. I do understand about connective tissue, and also understand that this is probably just in the aorta rather than an all over body problem (I am not double jointed or tall ect...)
We have an appointment with a geneticist to check anyway on my request. My cardiologist also wants me to have an MRI of the descending aorta to check for any further dilation or at least get a baseline reading for the future.
Any advice or stories would be very helpful,

Many thanks,

Ross
 
We did genetic counseling and since there was no history in my family of heart abnormailities, the doctors weren't too concerned about it being passed along to my kids, though there is still a chance. That didn't stop us from having our two kids however. The doctors recomended that we had them checked early on to make sure there were no problems, and my oldest was checked at 1 year old (thank God nothing showed up). Our youngest is scheduled to get checked out on Dec. 13th. We went to a satelite office of C.H.O.P. that's by our house and the appointment was quick and painless. Good luck!
 
I was born with a bicuspid aortic valve. When my wife and I went for genetic counseling due to her age, we asked about passing along my BAV. The geneticist downplayed the risk and basically said the evidence of this being an inherited trait is inconclusive. Now that was 15 or 16 years ago, the current view may be different. So far as we know, none of our three kids have any heart issues. We have not had them tested but all three have played soccer with no problems.
 
Just some food for thought, Guyswell....there are many people with BAV who have no problem with athletics when they are young but as time goes on, problems can start. That's how it was with me...i was extremely active and was able to do anything I wanted but wear and tear over the years helped led to stenosis and then the fun began around age50. FWIW.
 
There is a hereditary link. I have five kids. Three have been tested. Two present BAV although quite minor at this point with no limitations. The other two kids are quite young yet and it's difficult to get an accurate echo when they're that little. Probably due to get #4 checked on though.

As karla indicated previously. Presentation is all over the board with this with many people never having an issue and the BAV only showing up in an autopsy after living a long, full life. Mine was very limiting as a child and required my first AVR in my late teens.

For some reason Dr's tend to hem and haw on the link. Maybe because they haven't isolated the gene yet. Who knows.
 
Superman, Could you provide a reference for the heriditary link? I had a BAV and was told this year by my internest, cardiologist and surgeon that there was some evidence of a genetic predisposition but nothing strong enough to support routine testing w/o other symptoms. In addition, there is nothing close to pointing to any specific genetic marker. In my extended family, I am the only one for many generations. My son was checked by echo for another heart problem and is free of BAV. Is there something different about your case that allowed the testing of your kids for BAV or was it for something else? Thanks.
 
tom in MO said:
Superman, Could you provide a reference for the heriditary link? I had a BAV and was told this year by my internest, cardiologist and surgeon that there was some evidence of a genetic predisposition but nothing strong enough to support routine testing w/o other symptoms. In addition, there is nothing close to pointing to any specific genetic marker. In my extended family, I am the only one for many generations. My son was checked by echo for another heart problem and is free of BAV. Is there something different about your case that allowed the testing of your kids for BAV or was it for something else? Thanks.
Click to expand...

From http://en.wikipedia.org/wiki/Bicuspid_aortic_valve

"Bicuspid aortic valve is an inheritable condition, with a demonstrated association with Notch 1.[2] Both familial clustering and isolated valve defects have been documented. The incidence of bicuspid aortic valve can be as high as 10% in families affected with the valve problem. Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. Other congenital heart defects are associated with bicuspid aortic valve at various frequencies, including coarctation of the aorta."

These people are working to isolate BAV/connective tissue disorder genes and to come up with risk assessment tests: http://www.bav-genetics.org/
 
My husband has diagnosed with the condition 10 years ago. We haven't verified if any others in his family have had it, though the doctors have always told us it was hereditary. Both of our, then, teenaged daughters were checked with ultrasound or echo (I can't remember which one) and they are ok. They are both in child bearing years now - one has 3 children already - cardiologist said to have the kids monitored. i.e. if they have a heart murmur that continues into teen years to have them checked. Not sure that was as thorough advise as I would have liked, but that's what we were told. So far, the grand kids are doing fine. They were definitely "worth the risk."
 
Thanks for the info; doesn't seem very definitive. Some info appears contradictory; the Wiki article says there is a test, but the bav-genetics people are looking for one. The paper cited by the Wiki article says the data "suggests" a link.

Is there any paper that indicates a statistical relationship for BAV in families?
 
http://content.onlinejacc.org/article.aspx?articleid=1135734

Dr. Woody Benson out of Cincinnati Childrens conducted a study as well. A link to the abstract is above. Myself and my kids participated, but for some unknown reason, my parents and siblings would not - so I don't know if any extended family has a very mild presentation. From that study:

Because many of these BAV-related complications can be predicted or prevented, the identification of BAV heritability supports the previous recommendation (14) that echocardiographic screening of first-degree relatives of patients with BAV is warranted in order to identify persons with structural cardiac abnormalities.
Click to expand...

So far my kids are symptom free with no murmurs, but one does go in for an annual echo and the other goes every two years right now.

The 10% penetration indicated above is pretty significant when compared with the general population of less than 2%. It is more prevalent in males than females.

The other area of study I've been reading is the increased occurrance of brain aneurysms in those that have evidence of the associated connective tissue disorder (evidence being an enlarged aortic root or aortic aneurysm). The question I have is if the connective tissue disoder is more systemic or is it somehow isolated to the area around the heart. Some are suggesting that a brain MRI may be advisable every five years or so.
 
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