My pacemaker saved my life

Please tell me that they checked for Lyme?

by crustyg - 2023-06-10 05:09:37

Genetic testing: yes probably worthwhile if your sample is sent to one of the really good labs - you know the ones that understand that deep intronic analysis is really important.

There's a good chance that they won't find anything and they probably won't even share any odd variants unless there's a family study, i.e. they will suppress a lot of what probably should be reported as VUS.  If you can, try and get at least one parent and perhaps a sib to submit at the same time to the same lab.  Then you might find something.  Right now the ACMG guidelines cause a lot of variants to be suppressed by labs which is pretty much where we were with histopathology back in the 1970s (yes, that's when I started training).

Evidence?  You only have to look at the still poor pick up rates for genetic causes of HCM and DCM.  We now run huge panels for these, but pick up rates have fallen from 50% to 27%.  This also raises the unpleasant possibility that these conditions are caused by a combination of genetic variants where any single variant itself has no phenotypic presentation - so *only* family studies would prove that.  And at about $1000 per profile, that's not something that anyone wants to fund.

However, over-treatment, based in inaccurate interpretation of declared VUS is also a big problem.  And for genetic counselling it just gets worse.  It makes counselling prior to testing for Huntingtons look easy.  I recently attended a webinar about oncogene detection in donated bone marrow, post transplant.  Nightmare.

Genetic testing

by Julros - 2023-06-10 11:58:47

Welcome to the club. 

Something you might do prior to getting genetic testing is do a thorough family health background, to look for any early onset of heart issues. My son developed atrial flutter when he was 35, had an ablation, and was considered cured. 3 years later, he developed atrial fibrillation, and demanded further testing. His cardiac MRI showed an abnomality, and at that point they did genetic testing. He was interviewed to review his family health history, and many did not live past age 70. The genetic test showed an LMNA variant. Now, at age 42, he is have some blocks. 

My point is, that he showed other signs plus had a suspicious family history. Your MRI was normal and you will have yearly visits. Crustyg is spot on. 

testing

by Tracey_E - 2023-06-10 12:07:31

I have congenital heart block. No one else in my family has anything similar.

It's crazy how long it can go undetected. If we are young, active and healthy, there's no reason to look. Mine was found when the pediatrician noticed that my rate was always slow.

Does your mom have Lupus? That's the main genetic link for heart block. I was told mine was a fluke and nothing I could pass on to my kids. My cardiologist did work ups on both of my kids to satisfy his own curiosity. Both are perfectly fine. 

Glad you found us! 

👋🏼 welcome!!

by Lavender - 2023-06-10 12:07:58

I'm sporting a CRT-P. I'm 100% dependent on it-have AV Node block and Left bundle branch block. Had the LBBB for 11 years before I got the pacemaker. Never noticed it and it was found incidentally on the first ever EKG. 

I was fine until two years ago. Then...six months of fainting and a thirty day monitor finally caught my arrythmia-ventricular standstill. The pacemaker saved my life.

I am so happy to hear you're going to be an emergency doc!! At my local hospital, they're having a shortage!  We are seen by PAs who email doctors then do as they're told to do in ordering tests and procedures. Used to be that you saw a doctor in person. Not anymore. 
 

Having gone through this yourself, you're invaluable in understanding the process!

As for genetics-good hearts are my family background, however my own son died of congenital heart disease at almost age 3. My cardiologist said he might have developed that from my genes. My other two sons seem fine. 

One non-medical, and totally human, perspective

by Gotrhythm - 2023-06-10 15:47:44

I had to laugh a little (kindly, I assure you) at your story. It was so similar to other stories of others who seemingly out of the blue find themselves with a pacemaker for complete heart block. What was different was that you actually understood the reason for each test you were given and what the doctors told you when the results were in!

What I would remind you, medical knowledge aside, is that you have been through a traumatic event. There's a huge emotional difference between being able to read an EKG and learning that one's own heart isn't able to sustain one's own life.

Take some deep breaths. Give yourself a little space, a little time to assimilate your new perspective, before you try to assure the health of your future progeny.

And while you're doing your deep breathing remind yourself that if you must have a heart condition that could result in sudden death, the kind that can that a pacemaker can deal with is the best kind to have.

Welcome to the Club, and the gene pool--if there is one--my electronically-enhanced friend. The water's fine.

Heart block and ventricular escape

by AgentX86 - 2023-06-10 18:47:57

The ventricular escape should at least kept you alive.  Sure, they'd want to get you on an external pacemaker as soon as possible (if not sooner). A temporary transvenious pacemaker seems odd too.

The other thing that kinda surprised me is that you tested positive for mono, even though you had mono before.  Getting mono twice is pretty rare.

It seems you scored a hat-trick.

Mono

by The Rose - 2023-06-10 19:54:42

Wow - glad you were saved.  

I've had mono 2 times, and they now think my recent sudden RBBB "entertainment" was caused by mono for a 3rd time.  I'd been over a year without more than 8 days full night's sleep due to a ridiculous neighbor, and also caught a cold.  Now, I've found out, said neighbor was using drugs, smoking heaven knows what, etc.  They infiltrated into my home.  

Worse, some of the medications at the hospital, despite my contraindication complaints, worsened my issue. 

After my discharge, unloading their poisons and switching doctors, I went from >50% daily pacing to < 1% pacing in a month and am now seeking full extraction.

Repeat Mono, as AgentX86 pointed out, is rare.  However, but once you have it, you can repeatedly experience it.  This is my 3rd adventure.  It tends to happen when I'm completely exhausted.

Prayers you're back to your residency, it's successful completion and a wonderful medical careeer!  Now, you'll have excellent experience for your future patients, regarding surgery, medical diagnosis, recovery and prescriptions.

genetic testing

by islandgirl - 2023-06-22 00:05:46

I should receive my genetic results from "All of Us" any day.  The nationwide genetic testing project funded is by the NIH. See if there's a testing site near you. I've had arrhythmias, multiple ablations witih the first one in 1999, sick sinus syndrome and received a pacemaker as an emergency, and a couple of years later a SCA, shown on PM interrogation through Medtronic as R on T.  I had another SCA saved by the ICD. I have recently developed heart block and severe heart failure, all with no known cause, and genetics is suspected. I do have sudden death in my family, taking the lives of my maternal grandfather and uncle in there 50s.

Best of luck!

CCHB

by dwelch - 2023-06-28 02:57:00

I have CCHB as well. mom does not/did not have lupus either.   When I first got mine like 36 years ago the doc didnt know what caused it I didnt ask for another decade or so when I might be trying to have a kid and then they said it was.  well you are a doc you know.   so in my pacer lifetime dont know (oh and we cant remove leads as I have an extra one that the doc broke removing/replacing pacer number one, am on number five).  now they know about CCHB (or perhaps in my case and Tracey_E maybe they dont) and now they can remove leads.

Maybe they know yours or can figure it out, but as a doc, no doubt you should look into this.  Lucky that you didnt completely blow this off "Im a doc, Im fine".  And were at the right place at the right time.  What I know now, and the time we waited from seeing the block to getting the first pacer (years) I should be very dead, I didnt hold back on activities and when the doc told me, "people in your condition have died from doing that", my teenage brain said, well stop telling the doc what you are doing (dont stop doing it just stop reporting it)...

Not that you have CCHB and i really wish I could re-find this, but life expectancy pre-pacemaker was teenager.   Myself and Tracey_E and others here with CCHB, super lucky...Back then you only got an EKG if something seemed bad enough to send you to the cardiologist, and then, it was primitive.  Today they look for stuff like this pre-birth and have a plan for this if detected...
 

Welcome to the club. Happy to hear you were in the right place at the right time with the right people.   Not that other doctors are without issues, but, doctors dont make the best patients.   Hopefully you will break that sterotype, esp since trying for emergency medicine and emergency medicine made a massive difference in your life.  maybe you will change to cardiology but I think in general that is not good.  I could easily have pursued a job working at medtronic or other (software/electrical engineer).   But there is the very real joke, 100 (choose the type, software) engineers get on a plane.   They are told btw one of your coworkers wrote the flight control software for this plane 99 engineers get off the plane.  I sleep better not knowing about the hardware/software details of the design.  Might have been fun to hack at my pacer at work, but ... glad i didnt pursue that.

again, welcome to the club, thanks for the post, very very happy you are here.

Another young medical provider!

by mkatz - 2023-07-24 18:07:03

Thank you for sharing your success story!! I'm certainly not happy to hear this happened to you but it does give me some relief knowing there are young medical providers like me recovering from heart issues! I'm 34 and Certified Nurse Midwife, I've had syncope thoughout my life but just thought it was mild vasovagal, I passed out last year while assisting a c/s in the OR and the respiratory therapist and nurses said I turned blue and stopped breathing and the anesthesiologist apparantly assessed if I needed intubation. I woke up and felt like I normally do, exhausted but fine, but was convinced by the providers who saw me that I needed to see a cardiologist. Like you, I also passed out a few times earlier that year (embarrasingly while rounding on my patients) when I went to work a little sick both times. 8 months later and I've learned I have Left Ventricular Non Compaction Cardiomyopathy and a positive tilt test with 18 seconds of asystole. Navigating the health care system as a patient has been eye opening, I've had conflicting EP recommendations and different opinions about whether both my conditions are benign or life threatening, there have been no clear answers but I suspect the non-compaction and aystolic episodes are in fact related. I had an ICD/Pacemaker implanted 2 wks ago. I was told I could be back at work this week but I'm glad I took a month off because I'm completely exhausted (I've separately posted about my depression/exhaustion), it's really been a challenge. My experience is very different from your's but I am inspired by your positivity and resilience and am grateful to hear another provider's perspective!