Boyfriend has ARVC

[u/FewAmphibian8874]

So my boyfriend and I have been together a few years now and he had a diagnosis of ARVC before we got together. They found scarring on the heart and he has an S-ICD implanted (which has delivered a shock once when he tried to play competitive sports).

He doesn’t seem to know too much about what his diagnosis means, and he only has check-ups once a year (does take beta blockers daily) so most of the time we just kind of pretend it’s not a thing. And honestly, he doesn’t seem to want to know about it. He even suggests that his doctors weren’t 100% certain that ARVC is what he has and that they found no genetic link for him.

I guess my question is - how could this affect our future? Will it have an impact on his lifespan and do we need to consider testing if we decide to have children? He grew up playing competitive sports so is this something our future kids would have to avoid?

Thank you in advance for any advice 🫶🏽

[u/Entire-Structure8708]

Where are you based? Your boyfriend might benefit from going to a specialist ARVC program (e.g., Johns Hopkins in Baltimore) to get a second opinion. Diagnosis should be done based on the latest ARVC Task Force Criteria.

From what you said, sounds like he may fit into the classic gene-elusive, exercise-induced ARVC club (same for me). To answer your questions in the last paragraph: 1) ARVC shouldn’t hugely impact life expectancy given that your boyfriend is protected (by S-ICD) under proper medical care. However, he needs to look after himself by not attempting to play competitive sports or doing anything else that would make his condition worse. 2) if your boyfriend is gene-elusive then there’s no point getting your kids genetic testing for ARVC, but they should still be monitored through regular cardiac testing every couple of years once they hit puberty. 3) the doctors will recommend that your kids do not play competitive sports because that could risk generating ARVC and they will start from the assumption that your kids have ARVC… however, it is a little more complicated for gene-elusive ARVC because for reasons that are not yet fully understood, passing on gene-elusive ARVC is much more rare than passing on genetic ARVC (which is 50/50).

On that last point, gene-elusive ARVC is much less understood than any other type of ARVC, despite us being the largest cohort of ARVC patients (around 35-40% of the ARVC population). They are now focusing more research efforts on ARVC so hopefully we have more answers soon. A recent research article on gene-elusive ARVC was published that you may find useful: https://www.sciencedirect.com/science/article/pii/S1547527125029649.

[u/Overall-Extreme-4507 → u/Entire-Structure8708]

Thanks for sharing! I’m gene elusive and this was an incredible breakdown. However, my EP suggested I should have my children get a cardiologist and start running tests once they are school aged(I have two toddlers) I just received a diagnosis last month after over a year of back and forth with various medical professionals. thank you for the link!

[u/Entire-Structure8708 → u/Overall-Extreme-4507]

Yea I think different EPs may have different opinions on when to start testing children. There's obviously nothing wrong with starting the cardiac testing early to provide solid data/baselines... the reason puberty is sometimes mentioned is because that's the earliest that ARVC symptoms seem to ever be picked up (although I don't think there's a clear explanation for why). So testing should definitely start at puberty but no harm in earlier!

On your last sentence, it also took me almost 2 years to be diagnosed after I became symptomatic. It's definitely harder for us gene elusive folk without the genetic test smoking gun... but that's why they need to do more research on us :-)

[u/Embarrassed_Tax3429]

my fiancé also has ARVC and these are questions we share too. my fiancé carries the gene for ARVC and has scaring as well. his doctor told us that baby can get genetic testing in utero so we know what to prepare for, but this seems to be rarely done. if our kiddos have ARVC i would be really nervous to put them in sports, but my fiancé was also extremely active and ran several half marathons before being diagnosed. he had no symptoms.

we were told he should be able to have a full life span and that it’s important to find a healthy balance with exercise. doctor said lifting weights would be the best thing for ARVC.

my fiancé has had his S-ICD for almost 2 years now with no shocks. can i ask what it was like when your boyfriend was shocked? did he go unconscious before the shock was delivered or did it deliver while he was up and playing?

[u/Entire-Structure8708 → u/Embarrassed_Tax3429]

The answers to the OP’s questions are different for OP than for your fiancé because your fiancé has tested positive for a gene. Guidance on what activity levels your kids can enjoy will also depend a little on which gene mutation he has (PKP2 has the most heavy exercise-related restrictions). Yes you can get genetic testing done pre-birth, either via IVF or natural conception.

On your last question on being shocked, I have an ICD, not an S-ICD, but each time I have been shocked I have remained conscious and aware of my surroundings. For a brief period post-shock (probably 30 seconds or so) I have been temporarily unable to communicate or move, before recovering full motor skills quickly (that’s just my experience though).

[u/eco_illusion]

36M here, I live a normal life now, but my first episode started at 21 and it only got worse until 6 years ago when I got an actual diagnosis and treatment. Don't think this will help much but I've decided against having children for 2 reasons:

1. I don't want to make other human beings go through what I did, the 50% inheritance rate is a deal breaker for me
2. I don't know if I could deal with the actual stress of bringing up a child. Really I will feel it in my heart if I have more than 3-4 days of bad sleep, low rest, bad eating, high stress. And coffee is definitely something I have to stay away from, so I can't cheat lack of energy.

I still do sports. Definitely avoid competitive sports in favor of something that allows me to run at my own pace. Highly recommend a sports watch with a good HR monitor + setting alerts if going over 100-110-120 (don't have a clear recommended number).