3 ms·

My sister had one of those "blank autopsies." Otherwise healthy 29-year-old women just don't normally experience sudden cardiac death, even when they are 8 mont

by smeej 3y ago

My sister had one of those "blank autopsies." Otherwise healthy 29-year-old women just don't normally experience sudden cardiac death, even when they are 8 months pregnant. The medical examiner's report even said that since the cause of the sudden cardiac death could not be determined, any of her siblings or offspring (me and our brother; her son didn't recover brain activity after being without oxygen for an hour before they could do the C-section) receive a full cardiac workup and look into testing for any lethal heritable cardiac channelopathies. Neither of us found anybody who would do a broad-scale genetic test on the basis of the report, but we both saw cardiologists who confirmed our hearts are apparently fine. It's much too late now to take her blood (she passed away six years ago), but I thought the lab had retained some of it for later testing. It's probably one of those things that'll just stay a mystery, but I'm glad fewer people will have to wonder.

giantg2 3y ago
If she ever did some sort of surgery, they often have some samples they keep frozen for various purposes.
tomcam 3y ago
God I'm sorry for you and your family.
expunged 3y ago
I’m so sorry for your loss. Some heart problems aren’t really detectable after death. I have Long QT syndrome, which is basically an electrical problem that affects heart rhythm and makes people who have it susceptible to sudden cardiac arrest. Because it’s an electrical problem, you wouldn’t see it if the heart isn’t beating. It’s taken out at least two people in my genetic family. I’m not sure if you were tested for that (genetic testing would be best), but it might be worth looking into. LongQT is notoriously difficult to pick up on an EKG unless they are using a 12-lead EKG and looking for it and even then it might be a no show. When I was tested, I was originally told by the cardiologist that I did not have it. Then my daughter was tested and she _did_ have it, and she would have only gotten it from me. So they did genetic testing on me and confirmed. The cardiologist was wrong, but it wasn’t his fault. I’d suggest getting additional testing other than an EKG.
- voisin 3y ago
  > I have Long QT syndrome Man, didn’t expect to see this here today. My siblings (from another mother) all have Long QT or are carriers. Two have pacemakers. Their mother died of sudden cardiac event while sleeping which in retrospect was obviously Long QT. I live on the other side of the country and two of my sisters are visiting now and I just read them your comment. One (with a pacemaker, the second to have seizures as a teen) had very much the same experiences as you, with confused cardiologists changing their diagnoses. Back then, it was a miracle they got a diagnosis at all because we happened to live close to a very important cardiology centre. Anyways, not entirely sure why I am posting this other than to say we experienced a very similar thing and it is quite scary and I am sorry you are going through it. It’s awful, but thankfully manageable with beta blockers or pacemakers. It could be worse, but it’s pretty traumatic. Hope you and your daughter stay ok :-)
  - expunged 3y ago
    That’s crazy. Other than my daughter I’ve never met anyone else who has it. You totally nailed it lol- I have a defibrillator implant (no pacing) but have never had an event. And my daughter and I both take beta blockers. It really does keep it under control; Its weird to think about how something so dangerous can be so easily managed when you know what’s going on. I hope the path to diagnosis for your family was quick. It took awhile in mine and even then I’m not 100% sure how they figured it out.
    - PaulHoule 3y ago
      My understanding also is that you can get long QT from certain drugs, like the early (but still highly effective) antidepressant imipramine. https://www.ncbi.nlm.nih.gov/books/NBK534864/ https://www.ncbi.nlm.nih.gov/books/NBK534864/ I don’t know if it’s a hazard to everyone or if someone who has a propensity to long QT is particularly susceptible to those drugs
    - voisin 3y ago
      The path to diagnosis was around 30 years ago when they started having seizures. It took approx 3 years or so to identify it and again, only by luck given our proximity to a major cardiac centre. I wonder whether something like the Apple Watch EKG could identify it today such that it could alert people that they should go for confirmation by a cardiologist?
QuercusMax 3y ago
My mom's grandfather passed away from an aneurysm in his 40s. Her brother died of an aneurysm in his 20s. Her younger sister had some sort of brain-blood-vessel anomaly related to a benign tumor, but she had it removed. My mom had an aneurysm burst in her 70s but she survived. Her neurologist said that all my great-grandpa's descendents should get brain MRIs to determine if we have the same problem. Several of my siblings and our kids got brains scans, but nobody found anything to report on them. Meanwhile, two of my mom's younger sisters (both in their 70s) just passed away since 2021 from pancreatic cancer. Scary stuff.
gms7777 3y ago
I'm so sorry for your loss. In my first year of college, I lost a close friend in a similar way. Perfectly healthy 18-year-old girl. Went to sleep in her dorm one night and never woke up. It was my first real experience with death, at least at an age that I could truly understand what was happening, and I think not having a real cause made it so much more difficult to process. They did find a cousin afterwards who had an undiagnosed heart defect, but they said that it was likely unrelated. Still, a small bit of light I suppose from an otherwise tragic event, that otherwise it might not have been found and he might not have known.

by smeej 3y ago

giantg2 3y ago

If she ever did some sort of surgery, they often have some samples they keep frozen for various purposes.

tomcam 3y ago

God I'm sorry for you and your family.

expunged 3y ago

I’m so sorry for your loss. Some heart problems aren’t really detectable after death. I have Long QT syndrome, which is basically an electrical problem that affects heart rhythm and makes people who have it susceptible to sudden cardiac arrest. Because it’s an electrical problem, you wouldn’t see it if the heart isn’t beating. It’s taken out at least two people in my genetic family. I’m not sure if you were tested for that (genetic testing would be best), but it might be worth looking into. LongQT is notoriously difficult to pick up on an EKG unless they are using a 12-lead EKG and looking for it and even then it might be a no show. When I was tested, I was originally told by the cardiologist that I did not have it. Then my daughter was tested and she _did_ have it, and she would have only gotten it from me. So they did genetic testing on me and confirmed. The cardiologist was wrong, but it wasn’t his fault. I’d suggest getting additional testing other than an EKG.

voisin 3y ago
> I have Long QT syndrome Man, didn’t expect to see this here today. My siblings (from another mother) all have Long QT or are carriers. Two have pacemakers. Their mother died of sudden cardiac event while sleeping which in retrospect was obviously Long QT. I live on the other side of the country and two of my sisters are visiting now and I just read them your comment. One (with a pacemaker, the second to have seizures as a teen) had very much the same experiences as you, with confused cardiologists changing their diagnoses. Back then, it was a miracle they got a diagnosis at all because we happened to live close to a very important cardiology centre. Anyways, not entirely sure why I am posting this other than to say we experienced a very similar thing and it is quite scary and I am sorry you are going through it. It’s awful, but thankfully manageable with beta blockers or pacemakers. It could be worse, but it’s pretty traumatic. Hope you and your daughter stay ok :-)
- expunged 3y ago
  That’s crazy. Other than my daughter I’ve never met anyone else who has it. You totally nailed it lol- I have a defibrillator implant (no pacing) but have never had an event. And my daughter and I both take beta blockers. It really does keep it under control; Its weird to think about how something so dangerous can be so easily managed when you know what’s going on. I hope the path to diagnosis for your family was quick. It took awhile in mine and even then I’m not 100% sure how they figured it out.
  - PaulHoule 3y ago
    My understanding also is that you can get long QT from certain drugs, like the early (but still highly effective) antidepressant imipramine. https://www.ncbi.nlm.nih.gov/books/NBK534864/ https://www.ncbi.nlm.nih.gov/books/NBK534864/ I don’t know if it’s a hazard to everyone or if someone who has a propensity to long QT is particularly susceptible to those drugs
  - voisin 3y ago
    The path to diagnosis was around 30 years ago when they started having seizures. It took approx 3 years or so to identify it and again, only by luck given our proximity to a major cardiac centre. I wonder whether something like the Apple Watch EKG could identify it today such that it could alert people that they should go for confirmation by a cardiologist?

QuercusMax 3y ago

My mom's grandfather passed away from an aneurysm in his 40s. Her brother died of an aneurysm in his 20s. Her younger sister had some sort of brain-blood-vessel anomaly related to a benign tumor, but she had it removed. My mom had an aneurysm burst in her 70s but she survived. Her neurologist said that all my great-grandpa's descendents should get brain MRIs to determine if we have the same problem. Several of my siblings and our kids got brains scans, but nobody found anything to report on them. Meanwhile, two of my mom's younger sisters (both in their 70s) just passed away since 2021 from pancreatic cancer. Scary stuff.

gms7777 3y ago

I'm so sorry for your loss. In my first year of college, I lost a close friend in a similar way. Perfectly healthy 18-year-old girl. Went to sleep in her dorm one night and never woke up. It was my first real experience with death, at least at an age that I could truly understand what was happening, and I think not having a real cause made it so much more difficult to process. They did find a cousin afterwards who had an undiagnosed heart defect, but they said that it was likely unrelated. Still, a small bit of light I suppose from an otherwise tragic event, that otherwise it might not have been found and he might not have known.