Genetic autopsies to unravel the mystery of sudden deaths
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english.elpais.com
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.
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.
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 :-)
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.
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
I think our cardiologist worked with them on developing the device and we use it to take EKGs and remotely send them to the clinic. I think it's sensitive enough they can use it to look for stuff like this, but I also think LongQT is tricky enough to detect it just may not always show up. Maybe you could do a series of EKGs over a period of time and send them all in or something.
They told us part of the heart muscle itself was dead, meaning there would have been no hope of resuscitation, but also that it showed signs of multiple infarcts. They just didn't know if they were all at once or had happened over years and had never been diagnosed.
Medical neglect is a not-insignificant part of our childhood stories, and it's hard to figure out what we don't even know to pay attention to as adults.
I don't think there are, but I'm not a doctor.
It's usually tested for genetically or with an ekg. It doesn't have any outward physical signs or traits that I'm aware of. There are several different subtypes and each has different triggers; so diagnosis usually happens in response to an event. For example, passing out when the phone rings because you're surprised. I don't think a lot of doctors know much about it. In my case, I didn't find out I had it until I was in my 40s and that was because I made contact with my biological family (I'm adopted) and they told me I needed to get checked for it.
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.
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.
"This gene combo has a 10% chance of mortality due to cardiac causes" doesn't tell you much about one person who died suddenly. There are a lot of people with those genes who didn't die suddenly of that thing, or did but of something else.
So at best you're working with a sort of a shrug in a certain direction.
Whether the genes / gene networks are known or not, it seems very obvious that there's something hereditary going on there.
In one of the cases in the article, the 15-year-old who died had scarring in his heart and a blood relative who already had a heart implant related to arrythmias. They confirmed he had genes related to this issue as well. Seems pretty open-and-shut.
I experienced a very bad compound fracture of my wrist, and I have metal plates and a bunch screws permanently implanted into my left radius and ulna. I don't consider the use of my left hand to be fake or artificial, but by your rationale I'm fooling myself.
Yes.
>Or do you have some kind of fear of contamination, being "less-than-human"?
No. In fact, I have nothing against external life enhancing tools of any kind, be it glasses, hearing aids or anything else. I do not look down on anyone for having any kind of artificial devices, either invasive or non invasive. Just for me personally, the idea of having artificial devices as a permanent part of biological flesh feels awful. I like technology, but at hand's reach.
>Your views seem quite abnormal.
Good.
I've spent a quarter of my life building tools and environments to help advance spaceflight - I hope to hell that everyone in the future who has the potential to be helped by my work takes advantage of it, otherwise what was it for?
I respect your view, but maybe it’s not as limiting as you think it is. The pacemaker doesn’t define you, it just gives you the backup you need so you can do whatever you want to do.
Not everyone is the same, nor are the lives they lead, the lifestyles they lead (exercise/diet). In a population of our size there is likely going to be seemingly health people who unfortunately pass away, but that shouldn't stop people from being able to attempt to repair their health problems and ultimately live longer.
These people didn't have a choice, but you did.
>Sudden unexpected death in epilepsy (SUDEP) is a fatal complication of epilepsy. It is defined as the sudden and unexpected, non-traumatic and non-drowning death of a person with epilepsy, without a toxicological or anatomical cause of death detected during the post-mortem examination.
My inference is, chaotic systems are, well, chaotic. Sudden cardiac deaths could be simply the result of a healthy chaotic system going off the reservation.
I don't want to know if I'm predisposed to cancer, ALS, Alzheimers, heart disease, stroke, or anything else if there's nothing that can be done to change that. I also don't want to be hacked up by a surgeon, irradiated, and pumped full of toxic chemicals to give me another year or two.
If I was of a conspiratorial mind, I might suspect that the vax was the cause.
But your average old or sick person passing away at home, generally does not get autopsied.
Many of them are performed because they're required by law, to establish a cause of death both for the families but also potentially to understand if someone else was responsible for the death.
Many of them are performed because outside of the above, we have historically learnt an enormous amount about the human body through studying them, particularly for unique injuries or illnesses.
Otherwise, there are many that aren't performed at all
The amount of all cause mortality data coming out from different nations is quite telling.
Lots of studies and news articles now coming out how common sudden death from cardio problems are, strange timing.
Billions of years of evolution where a heart has been present for millions of those. This is plenty of time to iron out kinks.
(last 100 years) Hundreds of thousands of chemical compounds in our air, food, environment, and even injected or otherwise ingested by us for which we did not evolve to tolerate.
People are dying more often of strange illnesses we've never seen or studied up until recent decades.
Media, Politicians, Industry heads: "Durrrrr it's genetic factors"
It's nearly certain that the uptick in sudden deaths is our own doing.