Question about genetic testing!

[SatoriFround]

Y

YES, And I was born with it, genetic defect. From mother having RA.

That is interesting. Did the RA cause a genetic mutation? My mother had multiple sclerosis, and I carry a bunch of genes linked to MS, but haven't found any linked to BAV. I believe my Pectus Excavatum (PEX) is genetic as I have a cousin who also has it. BAV is associated with PEX, but I don't have Marfan's. My sister was diagnosed with hyper-flexible Ehler's Danlos, but I she is a hypochondriac and.... Well, there is no gene found for that form of ED. I do have two hyper-flexible children though.

 

[SatoriFround]

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.

My doctors have all heard my murmur. I would tell each new doctor I'd had it all my life, and no one checked it out further. I had no symptoms, so they assumed it was an innocent murmur.

I went for my physical to renew my med certificate for my commercial driver's license and they said I needed a letter from my doctor saying I was safe to drive. It is a new requirement for CDLs. *sigh* I am not currently using my CDL for my job, but I wanted to keep it maintained.

 

[SatoriFround]

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.

Wow! That is a pretty big aneurysm. I am glad you found the right doctor. How scary!

 

[Survived03]

Interesting, I’m going to be 64 this year. When I was much younger I was required to have physicals in order to be cleared for sports. Frequently they would hear a murmur and pretty much blow it off. If I remember correctly, even my primary physician whom discovered the BAV and aneurysm heard it prior but didn’t act upon it until I was symptomatic. So both as a young adult and midlife, it was basically ignored. It took my own diligence to raise when symptomatic.

 

[danielwoz]

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 it's also that the Murmur might not always be there. Under my stressful situations (stomach ulsur in ER) when I was 20 a doctor heard it... I followed up afterwards and several doctors did not hear it, when I was 41 and experienced some symptoms of my BAV, every DR heard it immediately, including one of them that had not heard it previously. The apparentness of murmurs are heavily dictated by heart rate, blood pressure and severity of condition.

 

[SatoriFround]

I think it's also that the Murmur might not always be there. Under my stressful situations (stomach ulsur in ER) when I was 20 a doctor heard it... I followed up afterwards and several doctors did not hear it, when I was 41 and experienced some symptoms of my BAV, every DR heard it immediately, including one of them that had not heard it previously. The apparentness of murmurs are heavily dictated by heart rate, blood pressure and severity of condition.

Every doctor my I have ever had has noticed his. LOL But I also suffered high blood pressure so maybe that's why? Or it could be heart placement, since my heart is displaced. According to my wife she can hear/feel my heart louder/stronger than anyone who's chest she has put her head ons...