Hello Again--Genetic Testing Recommended

francie12 · May 11, 2013

It has actually been three years since I've posted. I can't believe how fast the time has flown by! After this post I will visit around the forums to see how all are doing. Hope it has been a good three years for everyone.

I am happy to report that my boy Matt, about to be 21 now (11 when I first found vr.com) has had fairly stable heart dimensions. As he grew, the numbers went up, but they were commensurate with his increasing bmi. I actually was able to stop thinking about it all, which has been great. Matt himself has never been worried in the slightest, assuming that it will all work out.

So, I've recently had a call from the Genetics Clinic, discussed both sons with a very together and informed doctor, and now have some things to think about. The doctor advises genetic testing for Matt, specifically TGFBR1&2, ACTA2 and MYH11. I was a bit taken off guard as Matt has his yearly echo/xray/exam, so thought he was covered. I was told that these tests are newly available and of value for the information they can provide about possible future scenarios. Our health insurance has been tricky lately (don't get me started!), and of course these tests are very expensive. The dr is writing to the insurance company to try to convince them to cover it.

I'm wondering if any of you BAV friends have had this testing or can shed any light on it. Have you decided pro or con, feel it is valuable? You all were such an amazing support when my littler boy was first diagnosed. It feels good to check in again! Best to everyone!

AZ Don · May 12, 2013

Because the testing is available, was recommended, and is covered by my insurance, I'm having it done. I would probably think about it more if I was paying for it but I'm already past my out of pocket max. Can't respond on the benefit yet as I just had the blood draw a few days ago, so don't have results yet. I think the theory is that if I have a defective gene it may be helpful to know this, and then in turn my kids can be checked to see if they have the defective gene. As it is I already know that I have a BAV and that my aorta is prone to aneurysms, so I'm not sure what more the genetic tests can tell me. My kids need to go for an echo at least once. Not sure if they need follow-ups if all is well, but if we were to find they have a defective gene, then I expect that would indicate regular follow-ups.

francie12 · May 12, 2013

AZ Don said:
Because the testing is available, was recommended, and is covered by my insurance, I'm having it done. I would probably think about it more if I was paying for it but I'm already past my out of pocket max. Can't respond on the benefit yet as I just had the blood draw a few days ago, so don't have results yet. I think the theory is that if I have a defective gene it may be helpful to know this, and then in turn my kids can be checked to see if they have the defective gene. As it is I already know that I have a BAV and that my aorta is prone to aneurysms, so I'm not sure what more the genetic tests can tell me. My kids need to go for an echo at least once. Not sure if they need follow-ups if all is well, but if we were to find they have a defective gene, then I expect that would indicate regular follow-ups.

Thanks for the reply, Don. I wish you much success with your surgery and as smooth an experience as possible. From my years of reading about this I gather that the procedures have become pretty routine, and though not something you would choose to have, generally come out just fine.

When my son was diagnosed, they recommended that all first degree relatives have an echo. This revealed a slightly enlarged AO in my younger son and a slightly more enlarged AO in my husband. Younger son is having a followup echo next month, some fours years after his last. I'm assuming all is normal, but will be happy to get the results anyway.

Pertaining to the genetic tests, part of me is concerned that there will be findings that cause unnecessary concern--regarding things that would never present a problem through life, but inject a bit a doubt. My son thus far does not feel like a "heart patient," and it would be great to preserve this as long as possible. On the other hand, knowledge is power...

Again, all the best! If you decide to share your genetics findings here, I will be very interested to see. I will do the same with Matt's if he decides to do the testing.

tom in MO · May 13, 2013

My surgeon said in 2/2012 that there has been no specific genetic marker identified for BAV (he had just come back from a conference.) He said there is a statistical correlation, but until the actual genetic component is identified, it's just a correlation. If this is true, then it is unclear why this doctor would want a test done on your dollar and not done on his reasearch grant. Does Matt have more than just a BAV? You said he has a yearly Xray, this is not common for BAV, does he have something else going on that these tests are for?

lubdub · May 16, 2013

Hello Again--Genetic Testing Recommended

Hi,

For those who have been diagnosed with BAV and an aortic aneurysm these traits can occur in different combination within a family. For example, I was diagnosed with BAV and aortic aneurysm but my brother was found to have a normal aortic valve with a dilated aorta.

Dougall

francie12 · Jul 10, 2013

UPDATE with Test Results

We were fortunate to have a smart doctor who wrote a letter to our insurance company, resulting in enough coverage for the testing (see original post) that we were able to swing it financially. I was very glad this worked out, because the testing proceeded and reports from all three tests came back negative. This is extremely good news for our family as it takes away (significantly) nagging concerns about Matt's brother and father.

Based on the results, Matt's condition does not seem to be part of a familial disorder, hence the borderline high dimensions of father's and brother's aortas are not as concerning. Also, we have a more positive take on Matt's situation, so somewhat relieved and happy there too.

The genetics doctor recommended that Matt wear a medalert bracelet, suggesting that if he were found passed out the first assumption for young men his age would be drugs as opposed to TAA. Matt took this in stride and ordered a bracelet, thinking of it as not a big deal--as he has all along.

I hope some of our experience will be helpful to others in similar positions. All the best to everyone.