Question about genetic testing!

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Yeah it’s crazy on Reddit haha.
yep ... would you want your mindset to be closer to medical professionals and researchers or "kiddiez" and "shltposters"

of course you can find some good opinions there (my view is about 2%) but aside from the "filtration" issue you will find that it winds up your anxiety (or in my case my anger, because I hate shltposts as answers to serious questions).

I am OCD and I've made a career out of that (software engineer and database administrator), I fully support (guided) OCD ... anxiety on the other hand I have no time for. Anxiety does not even warrant being called an attribute of your character; anxiety is simply a destructive force that is an outcome of a failure to take command of it. Its like a messy house isn't a sign of well lived in, its a sign of a lack of discipline.

Anxiety is real, just like 2 weeks of washing up in the sink is real; but it is not a characteristic, its a symptom. The longer you foster it the worse it will be for you.

1711398727288.png


They say that honey attracts more flies than vinegar, but you know, I've always said that bullshlt attracts even more. I'm not a bullshltter, I'm a firm believer in "the truth".

I've never seen anyone who attributes their success to "anxiety" ... or write a book celebrating how its helped them.

Conquer it.

Best Wishes
 
I saw Invitae - but also see they’re now filing for chapter 11 - would that persuade your decision in anyway? If not, gonna order today
I didn’t realize that. Filled chapter 11 last month. I can’t find anything that shows they have stopped testing will going through bankruptcy. But it’s probably a matter of time unless they get purchased.

I did find another company who is part of Exact Science. They have been around for a while and they provide Cologuard testing for colon cancer. I’m sure you have seen the commercials 😂😂

Link:
https://www.preventiongenetics.com/testInfo?val=Familial-Thoracic-Aortic-Aneurysm-and-Dissection-(TAAD)-Panel

When I have more time I will look at the actual gene mutations and see how they compare to Invitae.

EDIT: Prevention Genetics test for 17 known gene mutations. Invitae tests for the same 17 plus 17 additional gene mutations
 
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Hi guys -

I’m sure most of you got generic testing after learning about your BAV/TAA/whatever else -

Can anyone tell me the steps in doing that? I’m feeling … pellicle cover your ears 😂 … *anxious* about not knowing if I have a connective tissue disorder and feel like I need to know that ASAP but have no idea how to get started. Should I ask my PCP? Cardiologist?

Thanks!
I haven't been diagnosed BAV, but the doctors said they can't rule it out. That portion of my heart is hard to image on the echo doppler as I have Pectus Excavatum and my heart is positioned strangely. My wife suspected Ehler's Danlos, but after we did the ancestry DNA test we ran the raw data through Promethease and didn't come up with any Ehler's Danlos markers. I am very tall, 6'4" with a big arm span, and pass the thumb across your palm test that oftentimes signifies Ehler's Danlos. I also have two children with hyper flexibility in that certain joints flex in ways most don't. What most people call double jointed. BAV also seems to be more common in those with Pectus Excavatum. My aortic valve stenosis just moved from moderate to severe (within 18 months).
 
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suspected Ehler's Danlos,
The symptoms and inherited traits you mention look suggestive (to my non-medical eye). I guess there could be a few possibilities:
  • The ansestry's DNA test is not good enough for such analysis. (I don't really know if this is the case. But I know there are specialized medical tests for this purpose.)
  • It could be something else "similar". For example, did you check for Marfan's?
  • Could be a connective tissue issue that's not classified yet.
  • Or just a coincidence of several traits.
AFAIK, it may be useful to consult with a rheumatologist for a real diagnosis. The information may even be useful for the surgery planning.
 
I have zero Marfanoid features. I looked into all the syndrome's that are common in those with PEX (Pectus Excavatum). Reading up on ED on a decent website last night it's a maybe, maybe not. Definitely not definitive. I do have mild scoliosis and PEX, so musculoskeletal, some hypermobility, although some areas I am not as flexible- sitting cross legged on the floor is impossible for my legs. LOL My skin is soft, but I am unsure about velvety soft, LOL. Weirdly my sister was diagnosed with Ehler's Danlos. I am going to have to speak with her more about it at our annual lake house vacation in two weeks. She doesn't fit so much of the criteria. Now I want to know if she actually had genetic tests for it.
 
Hi guys -

I’m sure most of you got generic testing after learning about your BAV/TAA/whatever else -

Can anyone tell me the steps in doing that? I’m feeling … pellicle cover your ears 😂 … *anxious* about not knowing if I have a connective tissue disorder and feel like I need to know that ASAP but have no idea how to get started. Should I ask my PCP? Cardiologist?

Thanks!

Sure. Why not explore all avenues available. While genetic science is still developing (i use the analogy that the rocket is not settled into the orbit yet) but it's already shedding valuable insights into diseases/disorders that have genetic disposition.

There are markers identified which point to AAA which are useful to quite an extent. For example, serious ones like Marfan syndrome and Loeys-Dietz syndrome are fairly well identified. While it may not help everyone today, it does help confirm some cases as mentioned. While the rest of us can get some level of assurance that we aren't associated with any known markers (yet) about the severity of our AAA. Once again, it's developing science and isn't all useless. AAA is farther ahead than the BAV.

Here's an article you may find useful:
https://www.ncbi.nlm.nih.gov/books/NBK1120/

Owing to the fact that it's a new science, don't expect your cardiologist to know much about it. However, major centers (e.g. UCSF, Stanford in the bay area) have dedicated genetic counselors associated to the cardiology/aortic departments (cardiologists and surgeons). You may find a genetic counselor closest to you here:
https://findageneticcounselor.nsgc.org/?reload=timezone

As far testing, once you go to the centers that do genetic counseling for AAA/Thoracic Aortic Aneurysm, they would refer you to a lab that does this testing, and work with you to get your insurance cover this test. I got mine back in 2014 thru UCSF and GeneDx was the lab that performed this test. Insurance covered it but I had to pay for some of it.
Then, I recently found another lab that does this test fairly comprehensively for just $250 (whether or not insurance covers it). The lab's name is Embry Genetics: https://www.ambrygen.com/

And finally, do not miss reading this recommendation from American College of Cardiology and AHA published in 2022 about family linkage:
https://www.ahajournals.org/doi/10.1161/CIR.0000000000001106

Let me know if you've any questions. All the best exploring your genes (re: AAA/BAV) :)
 
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quite interesting, but I started "skimming" this as soon as I hit:​
“We previously found that young individuals who present due to early onset thoracic aortic dissections are more likely to have bicuspid aortic valves and more likely to have rare variants in bicuspid aortic valve-associated genes,”

because this is (as I understand it) a minority of BAV cases. There are (as I understand it) far more of us (I'm BAV and early diagnosed {or at least suspected} at about age 5) who make it through even quite late to adulthood before their (perhaps more than 30 years of) BAV made itself known.

When we observed that bicuspid aortic valve is kind of a risk marker for this group with bad outcomes, we specifically wanted to see whether young individuals who present clinically due to problems related to bicuspid aortic valve disease may also have rare genetic variants that predict complications such as needing valve surgery.”

so aortic dissections is "a risk marker"

Call me old fashioned, but the early presentation of a murmur is what I call a risk marker, and an aortic dissection is actually not a risk marker but a life threatening situation.

While this was interesting reading it underscores to me where the treatment : reward ratio is now being turned on its head. I see this in all areas of science (from particle physics to genetics) where increasingly expensive research (think CERN) blows out into the billions and yet fail to contribute much of significance to the specific field.

Increasingly its all about pulling out the cherry picker to grab the highest fruit at a diminishing return for most people.

About 1 in 100 people are born with a bicuspid aortic valve, making it the most common cause of congenital heart disease.
The comparison between the rare subgroup of early onset bicuspid aortic valve to the common population of the disease allowed researchers to determine which group of patients will benefit from genetic testing, enabling earlier, more aggressive treatment.

so we go from 1% down to perhaps 1% of 1% benefiting ... and no actual certainty of treatment. Just "here, have some worry". As a BAV patient I think I was actually glad that I struggled out from underneath the "cotton wool" covered lid and went and took risks and lived my life (prudent risks IMO).

Actually all my concepts above are well discussed in the movie GATTACA

Lastly I loved this admission:

“We showed that the older patients with bicuspid aortic valves are unlikely to benefit from genetic testing because they are unlikely to have these kinds of genetic variants,” Prakash said.

Yep ...



Sometimes we have to ask the question of "what's better for humanity" (rather than some individual person).

Were I told from birth I had a 90% chance of dying by 30 would I have done degrees, contributed to companies, contributed (even if only a little bit) to the fields I worked in and studied? Been here helping others?

or would I have just had a good time and probably fulfilled my "destiny". I made it to 60 ...

I'm not sure that genetic testing helps (the resipients, not the researcher getting grants and funding) as much as it obscures and disincentives the people tested.

Just my view.
 
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quite interesting, but I started "skimming" this as soon as I hit:​
“We previously found that young individuals who present due to early onset thoracic aortic dissections are more likely to have bicuspid aortic valves and more likely to have rare variants in bicuspid aortic valve-associated genes,”

because this is (as I understand it) a minority of BAV cases. There are (as I understand it) far more of us (I'm BAV and early diagnosed {or at least suspected} at about age 5) who make it through even quite late to adulthood before their (perhaps more than 30 years of) BAV made itself known.

When we observed that bicuspid aortic valve is kind of a risk marker for this group with bad outcomes, we specifically wanted to see whether young individuals who present clinically due to problems related to bicuspid aortic valve disease may also have rare genetic variants that predict complications such as needing valve surgery.”

so aortic dissections is "a risk marker"

Call me old fashioned, but the early presentation of a murmur is what I call a risk marker, and an aortic dissection is actually not a risk marker but a life threatening situation.

While this was interesting reading it underscores to me where the treatment : reward ratio is now being turned on its head. I see this in all areas of science (from particle physics to genetics) where increasingly expensive research (think CERN) blows out into the billions and yet fail to contribute much of significance to the specific field.

Increasingly its all about pulling out the cherry picker to grab the highest fruit at a diminishing return for most people.

About 1 in 100 people are born with a bicuspid aortic valve, making it the most common cause of congenital heart disease.
The comparison between the rare subgroup of early onset bicuspid aortic valve to the common population of the disease allowed researchers to determine which group of patients will benefit from genetic testing, enabling earlier, more aggressive treatment.

so we go from 1% down to perhaps 1% of 1% benefiting ... and no actual certainty of treatment. Just "here, have some worry". As a BAV patient I think I was actually glad that I struggled out from underneath the "cotton wool" covered lid and went and took risks and lived my life (prudent risks IMO).

Actually all my concepts above are well discussed in the movie GATTACA

Lastly I loved this admission:

“We showed that the older patients with bicuspid aortic valves are unlikely to benefit from genetic testing because they are unlikely to have these kinds of genetic variants,” Prakash said.

Yep ...



Sometimes we have to ask the question of "what's better for humanity" (rather than some individual person).

Were I told from birth I had a 90% chance of dying by 30 would I have done degrees, contributed to companies, contributed (even if only a little bit) to the fields I worked in and studied? Been here helping others?

or would I have just had a good time and probably fulfilled my "destiny". I made it to 60 ...

I'm not sure that genetic testing helps (the resipients, not the researcher getting grants and funding) as much as it obscures and disincentives the people tested.

Just my view.


HA! I have had a murmur all my life, no one ever mentioned BAV. They said a lot of people have murmurs, it is normal, don't worry about it. *smh* It was thought to be due to heart positioning from my Pectus Excavatum. I ran my ancestry DNA results through Promethease and have zero of the known genetic markers for BAV, Ehler's Danlos, Marfans, or aortic aneurysm.

Now the doctor says that while we couldn't verify BAV with the testing, he still believes I have it. He also emphasized that it was very important my children get heart scans to see if they have BAV, he emphasized it after my wife told them about the children's hyper-flexibility and my sister being diagnosed with Ehler's Danlos (the hyper-flexible one, which doesn't show up on genetic testing).

I don't know what knowing I had it earlier would do, or knowing whether my children have it. Eventually symptoms show up and you take steps from there. So what, they find out you have it as a child and then you are throwing money at the medical establishment so they can monitor for the next 20 years? Or in my case 40 years? Do people with BAV die of it because they weren't being monitored? Or do they present symptoms, go to the doctor, and find it and get fixed? What are these early treatments they are talking about? I hope it isn't operating on a functional heart in a small child to "fix" a valve that may never give them an issue....
 
Sure. Why not explore all avenues available. While genetic science is still developing (i use the analogy that the rocket is not settled into the orbit yet) but it's already shedding valuable insights into diseases/disorders that have genetic disposition.

There are markers identified which point to AAA which are useful to quite an extent. For example, serious ones like Marfan syndrome and Loeys-Dietz syndrome are fairly well identified. While it may not help everyone today, it does help confirm some cases as mentioned. While the rest of us can get some level of assurance that we aren't associated with any known markers (yet) about the severity of our AAA. Once again, it's developing science and isn't all useless. AAA is farther ahead than the BAV.

Here's an article you may find useful:
https://www.ncbi.nlm.nih.gov/books/NBK1120/

Owing to the fact that it's a new science, don't expect your cardiologist to know much about it. However, major centers (e.g. UCSF, Stanford in the bay area) have dedicated genetic counselors associated to the cardiology/aortic departments (cardiologists and surgeons). You may find a genetic counselor closest to you here:
https://findageneticcounselor.nsgc.org/?reload=timezone

As far testing, once you go to the centers that do genetic counseling for AAA/Thoracic Aortic Aneurysm, they would refer you to a lab that does this testing, and work with you to get your insurance cover this test. I got mine back in 2014 thru UCSF and GeneDx was the lab that performed this test. Insurance covered it but I had to pay for some of it.
Then, I recently found another lab that does this test fairly comprehensively for just $250 (whether or not insurance covers it). The lab's name is Embry Genetics: https://www.ambrygen.com/

And finally, do not miss reading this recommendation from American College of Cardiology and AHA published in 2022 about family linkage:
https://www.ahajournals.org/doi/10.1161/CIR.0000000000001106

Let me know if you've any questions. All the best exploring your genes (re: AAA/BAV) :)
You can take many genetic tests on the market, including ancestry, 23 and me, myheritage and the like, and for $12 run them through Promethease. They will give you a searchable report. You can search by condition or individual gene. Since I had previously done ancestry I uploaded my data and searched every gene I could find in research articles and don't have the bad version of any of them. LOL
 
HA! I have had a murmur all my life, no one ever mentioned BAV
Sad isn't it.

I've sat beside people at hospitals who were 60, never had anyone tell them they had a murmur but when they passed out at work and went to ER someone heard the murmur and sent them in for imaging.

As to why nobody said anything about yours is beyond me. Mine was picked up and investigation started at a young age. Probably that was, 1969 or so

Maybe Australia has some advantages in medical schools?

¯\_(ツ)_/¯
 
Sad isn't it.

I've sat beside people at hospitals who were 60, never had anyone tell them they had a murmur but when they passed out at work and went to ER someone heard the murmur and sent them in for imaging.

As to why nobody said anything about yours is beyond me. Mine was picked up and investigation started at a young age. Probably that was, 1969 or so

Maybe Australia has some advantages in medical schools?

¯\_(ツ)_/¯
I think because they were assuming it was something to do with the heart position and not an actual issue. The murmur did change in it's sound and that is when a doctor first expressed some concern. So maybe there are normal murmurs and concerning murmurs?

HAHA This is what google AI said:

Yes, there is a type of heart murmur that is considered normal and harmless, called an innocent murmur:


  • Innocent murmurs
    These murmurs are caused by normal blood flow through the heart's valves and are not associated with any structural abnormalities or disease. They are common in children, pregnant women, and thin people, but anyone can have an innocent murmur at any age. Innocent murmurs can occur after exercise, during pregnancy, or when someone has anemia. They usually resolve by adolescence.


  • Abnormal murmurs
    These murmurs can be caused by a problem with the heart valves or another heart issue. They can be caused by a valve that doesn't close tightly, or by blood flowing through a narrowed or stiff valve.

A doctor can use a stethoscope to hear a heart murmur, but sometimes further tests are needed to determine if there is an underlying issue.

But they have shown that google AI sometimes lies
 
HA! I have had a murmur all my life, no one ever mentioned BAV. They said a lot of people have murmurs, it is normal, don't worry about it. *smh* It was thought to be due to heart positioning from my Pectus Excavatum. I ran my ancestry DNA results through Promethease and have zero of the known genetic markers for BAV, Ehler's Danlos, Marfans, or aortic aneurysm.

Now the doctor says that while we couldn't verify BAV with the testing, he still believes I have it. He also emphasized that it was very important my children get heart scans to see if they have BAV, he emphasized it after my wife told them about the children's hyper-flexibility and my sister being diagnosed with Ehler's Danlos (the hyper-flexible one, which doesn't show up on genetic testing).

I don't know what knowing I had it earlier would do, or knowing whether my children have it. Eventually symptoms show up and you take steps from there. So what, they find out you have it as a child and then you are throwing money at the medical establishment so they can monitor for the next 20 years? Or in my case 40 years? Do people with BAV die of it because they weren't being monitored? Or do they present symptoms, go to the doctor, and find it and get fixed? What are these early treatments they are talking about? I hope it isn't operating on a functional heart in a small child to "fix" a valve that may never give them an issue....
No BAV, but was born with the Bicuspid and heart murmur, birth defect.
 
I saw 5 doctors in 2 years after my baby was born when I was 32. I had a weird weakness in my legs and knew it wasn’t normal. None of the doctors heard a murmur! I decided to see one more doctor, a GP, and she heard a murmur, ordered an echocardiogram, then had me bring the tape of it to a cardiologist she knew in Palo Alto. (The person who read the echo saw nothing). He watched the tape and had me come back in to tell me I had a leaking aortic valve and an aneurysm of 6. I needed heart surgery.
I think many doctors just aren’t good at hearing murmurs. I got lucky I found one that heard a murmur before my aneurysm burst.
 
I think many doctors just aren’t good at hearing murmurs. I got lucky I found one that heard a murmur before my aneurysm burst.
True. The first doctor who heard my murmur was in 2017. I was getting a physical completed as a requirement for an upcoming boxing match. He would not clear me of the physical until I got the murmur checked out by a cardiologist. I did visit the cardiologist, who clearly heard the murmur, but did not have time to get the echo and other tests he wanted completed prior to the boxing match. I really wanted to fight and so went to another doc who did not hear the murmur and cleared me for the fight. The night of the fight, the ring side doc also checked us out and cleared me- apparently he did not hear it- either that or he heard it and ignored it, not wanting to piss off 1,100 people who paid to see the fight, lol.
A year later I had another fight and saw a different doctor for my physical and no murmur was heard, once again. About 18 months after the murmur was first discovered, I did go back to the cardiologist and had him order the echo, at which time my aortic stenosis and BAV were diagnosed. Of course, I was very glad that I decided to go back and get things checked out.

So, yeah, in my experience, some docs hear murmurs and some don't.
 

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