Genetic testing mystery

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Wiles Darkwinter

Well-known member
Joined
Jan 24, 2021
Messages
70
Hi all,

Some might find this interesting. I did elude to this situation in my original post when I first joined the forum, but summary:

- My father diagnosed at age 62 with severe aortic regurgitation and 45mm aortic root - underwent surgery and received a tissue valve. Annoyingly, his surgeon did not replace the aorta. Since then, other surgeons have expressed disappointment about this decision to my father. Telling him, an experienced surgeon would have taken the aorta. The old man's aorta has been stable last 2 years thankfully, but will likely need intervention soon.
- 18 months after my father's surgery, I receive my surgery at 29 years old. trileaf valve, and 5cm aortic root. Valve sparing procedure performed. (complete fluke that it was discovered, as I was asymptomatic).
- Old man had genetic testing done out of interest, I opted not to.
- Genetic testing reveals NO genetic abnormalities at all....

Interesting situation, bizarre timing! 30 years apart in age, yet both needing intervention at the same time. If I have not inherited this condition from my father's side, then what a coinkydink!

Any thoughts, please send.

Cheers
 

pellicle

Professional Dingbat, Guru and Merkintologist
Joined
Nov 4, 2012
Messages
10,756
Location
Queensland, OzTrayLeeYa
Hey

IIRC @Warrick over in NZ also had OHS not too long after his dad, but not as far apart in surgery as they are in age.

I'm not of the view that we've fully mapped out the entire genetic and epigenetic pathways (but compared to when I studied we are leaps and bounds ahead).

Life is what you are dealt and sometimes peeking at the hands don't help us to play our cards to our best advantage.

Best Wishes
 

Lucker

Active member
Joined
Jun 24, 2022
Messages
33
Location
Russia
They look for abnormalities only in several places that are known to be assotiated with diseases. So far genetic testing is in no way exhaustive, not to mention that connective tissue disorders are assotiated with several genes, probably including some unknown too.
 

Wiles Darkwinter

Well-known member
Joined
Jan 24, 2021
Messages
70
Life is what you are dealt and sometimes peeking at the hands don't help us to play our cards to our best advantage.
I tend to agree. When my cardiologist asked me why I didn't want to do genetic testing, I asked him "will anything in the results change the way you're managing me?" He said - no not really. So I decided I don't have the emotional bandwidth to start looking that closely at it.
They look for abnormalities only in several places that are known to be assotiated with diseases. So far genetic testing is in no way exhaustive, not to mention that connective tissue disorders are assotiated with several genes, probably including some unknown too.
Yeah I hear you. I think for me they were thinking I have Marfan's or some other connective tissue disorder, but I have no physical signs of any of them. Ehlers Danlos syndrome can have a quite bizarre mixture of presentations. I have heard that some cardiologists change variations of medication based on different connective tissues disorders, which in my case can only be made through genetic testing as I don't have the signs. Maybe I will do it one day, who knows.

n terms of my son, I was always planning on having him monitored anyway.
 

pellicle

Professional Dingbat, Guru and Merkintologist
Joined
Nov 4, 2012
Messages
10,756
Location
Queensland, OzTrayLeeYa
So I decided I don't have the emotional bandwidth to start looking that closely at it.
wise ... the trick to any survival experience is (as I'm sure you know) to pare back anything except what's needed right now (for example: get out of the room, or fcuk we need to get that tent up right now...). As you get a grasp on that and get it done then there is time to consider "how doe we get warm" (for instance).

Same with emotional emergencies.

Jordan Peterson likes to couch it in terms of reducing complexity, which is the same thing, but just now how I learned it).

Small steps and as you can ... but don't make yourself afraid to move. Its for exactly these reasons that I'm glad I learned rock climbing when I was a lad (among other things).

I'm still gonna say watch GATTACA, its got so much in it if you can tolerated scifi
 

carolinemc

Well-known member
Joined
May 31, 2010
Messages
1,315
Location
kansas city, mo
Hi all,

Some might find this interesting. I did elude to this situation in my original post when I first joined the forum, but summary:

- My father diagnosed at age 62 with severe aortic regurgitation and 45mm aortic root - underwent surgery and received a tissue valve. Annoyingly, his surgeon did not replace the aorta. Since then, other surgeons have expressed disappointment about this decision to my father. Telling him, an experienced surgeon would have taken the aorta. The old man's aorta has been stable last 2 years thankfully, but will likely need intervention soon.
- 18 months after my father's surgery, I receive my surgery at 29 years old. trileaf valve, and 5cm aortic root. Valve sparing procedure performed. (complete fluke that it was discovered, as I was asymptomatic).
- Old man had genetic testing done out of interest, I opted not to.
- Genetic testing reveals NO genetic abnormalities at all....

Interesting situation, bizarre timing! 30 years apart in age, yet both needing intervention at the same time. If I have not inherited this condition from my father's side, then what a coinkydink!

Any thoughts, please send.

Cheers
Heart conditions are genetic from generation to the next or skips a generation. Happens a lot of the time in many millions, or billions of people of earth.
 

oo0My_Valve0oo

Well-known member
Joined
Aug 18, 2021
Messages
60
Location
United States
Hi all,

Some might find this interesting. I did elude to this situation in my original post when I first joined the forum, but summary:

- My father diagnosed at age 62 with severe aortic regurgitation and 45mm aortic root - underwent surgery and received a tissue valve. Annoyingly, his surgeon did not replace the aorta. Since then, other surgeons have expressed disappointment about this decision to my father. Telling him, an experienced surgeon would have taken the aorta. The old man's aorta has been stable last 2 years thankfully, but will likely need intervention soon.
- 18 months after my father's surgery, I receive my surgery at 29 years old. trileaf valve, and 5cm aortic root. Valve sparing procedure performed. (complete fluke that it was discovered, as I was asymptomatic).
- Old man had genetic testing done out of interest, I opted not to.
- Genetic testing reveals NO genetic abnormalities at all....

Interesting situation, bizarre timing! 30 years apart in age, yet both needing intervention at the same time. If I have not inherited this condition from my father's side, then what a coinkydink!

Any thoughts, please send.

Cheers
My heart problem was described as a genetic defect. This, from two separate medical associations and doctors. No genetic testing was involved. I think some symptoms and the evolution of the condition indicate genetic, perhaps it is a general assumption. Began as a thick valve causing murmur then deteriorated.

Many things in men come from the mother's side and women from the father's side. My mother's father and his brother both died in their 50's from heart attacks. Everyone who might have known details has passed away but I believe these were surprises. People see doctors and get check ups more frequently in recent decades. This was the early 1960's. When I learned of my condition escalating to surgery I wondered whether those men could have lived 20-30 more years if they had been routinely seeing doctors and it was with today's tech. But things have advanced and evolved over the past 60 years.

My cardiologist said there was nothing I did to bring this on. It wasn't life style, diet or environment. It has been interesting, some comments people have made indicate ignorant assumption about how this came about. The senior manager at my company thought it was my diet. He has no idea what I eat or do outside work. He doesn't know me at all. Yet he observed me eating a piece of cake and a donut when they were presented at work. It was like he actually thought that is what I eat daily.

Also, a genetically defective heart valve is not heart disease. You can have a genetic inclination towards heart disease which effects a valve but that is different. In my case it was similar to being born deaf or with crooked teeth.
 

carolinemc

Well-known member
Joined
May 31, 2010
Messages
1,315
Location
kansas city, mo
My heart problem was described as a genetic defect. This, from two separate medical associations and doctors. No genetic testing was involved. I think some symptoms and the evolution of the condition indicate genetic, perhaps it is a general assumption. Began as a thick valve causing murmur then deteriorated.

Many things in men come from the mother's side and women from the father's side. My mother's father and his brother both died in their 50's from heart attacks. Everyone who might have known details has passed away but I believe these were surprises. People see doctors and get check ups more frequently in recent decades. This was the early 1960's. When I learned of my condition escalating to surgery I wondered whether those men could have lived 20-30 more years if they had been routinely seeing doctors and it was with today's tech. But things have advanced and evolved over the past 60 years.

My cardiologist said there was nothing I did to bring this on. It wasn't life style, diet or environment. It has been interesting, some comments people have made indicate ignorant assumption about how this came about. The senior manager at my company thought it was my diet. He has no idea what I eat or do outside work. He doesn't know me at all. Yet he observed me eating a piece of cake and a donut when they were presented at work. It was like he actually thought that is what I eat daily.

Also, a genetically defective heart valve is not heart disease. You can have a genetic inclination towards heart disease which effects a valve but that is different. In my case it was similar to being born deaf or with crooked teeth.
Mine came from my mother's side, for several cousins' were born with heart defects. I had heart murmur of the aortic valve at birth. Mine too was not from environment, poor eating, or no exercise. My mother did have RA and it might have been part of the cause. But mostly the gene pool was against me. It is sad when people not educated enough to know what causes genetic birth defects. Sorry your boss was not in the know. But on the heart disease side of it, it is referred that way as to what we have to do to protect ourselves from infections for dental work and cleaning. But it is comes with the territory.
Welcome to the heart club, we all have other issues, but we have the heart common here.
 

dornole

Well-known member
Joined
Jan 5, 2014
Messages
876
Location
Minnesota, US
Mine is autoimmune related which pops up in family histories as all kinds of different things. But on the plus side I recently read an article that those gene make have saved my ancestors from the Black Death 😂
 
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