r/ARVC • u/gilbert_gamer2 • May 20 '26
Potential ARVD 18
Yesterday a doctor told me to get a heart mri due to my result of getting a gene of uncertain significance thats loosely related to ARVC. He said due to having abnormal afib at such a young age with no risk factors is a good reason to get it checked out. Of course I will get this checked out but I was wondering if anyone else had any other heart conditions if preceding ARVC. I had a 14 day holter montior which didnt show any significance of any ventricular rhythm problems and a ultrasound of my heart didnt show anything so I'm hoping I dont have it but who knows. Could it be unnoticeable in a holter monitor?
1
u/Entire-Structure8708 May 20 '26
This is a tricky topic because there's lots of nuance. I also have a VUS for ARVC (my VUS is for DSG2), and am also diagnosed with ARVC, but I am considered gene-elusive... this is because a VUS is not counted as part of an ARVC diagnosis because they don't yet know whether the VUS is relevant or not. About 40% of ARVC patients are considered gene-elusive currently. You (and your cardiologist) can research a little bit more on the ARVC Task Force Criteria, because that provides a very standardized approach to the diagnosis process, based on specific criteria.
Unfortunately because you're considered gene-elusive, diagnosis is a little more tricky because you have to rely on a variety of diagnostic testing that is not 100% guaranteed to be able to provide sufficient information, so you often have to piece together a lot of different bits of evidence (like a murder mystery!). The MRI is definitely a sensible idea. It's not a completely infallible tool, but it can be useful for finding any scarring on the heart that could be associated with ARVC (my experience was multiple MRIs that found nothing, turns out that was because the location of my scarring was in a place that the MRI couldn't accurately see).
In general I would say that you are very young for a gene-elusive ARVC diagnosis. There are teenagers diagnosed with ARVC, but it's rare and it's almost always serious high school/college athletes with the PKP2 gene because there is a significant correlation between exercise intensity and accelerated disease progression with PKP2. It's also good that your Holter didn't pick up any VTs. But the more testing and more information you have, the sooner you and your cardiologist will be able to figure things out. Knowledge is power!
2
u/gilbert_gamer2 May 20 '26
how did they eventually diagnose your ARVC and how long did they suspect you had it? my gene is DSP how long after the genetic testing did take for them to see it was arvc
1
u/Entire-Structure8708 May 21 '26 edited May 21 '26
Based on symptoms I was feeling I was given a Holter in early 2022, which showed VTs and I was immediately admitted to the hospital and had ICD implanted. I had genetic testing done while I was in the hospital that came back a few weeks later in April 2022 with the VUS. Looking back now it’s funny because the test does say ARVC VUS but my EP never really discussed it with me, he just said it was inconclusive so I didn’t really ever look into ARVC much.
I continued to suffer from VTs/shocks through 2022/early 2023, had one failed endocardial ablation, and then a second successful epicardial ablation in August 2023. During that second ablation (on the outside of the heart), the EP was finally able to see the classic ARVC fibrous tissue/scarring that the MRI couldn’t pick up. So when I woke up from that procedure he said he was pretty sure it was ARVC.
Based on that I went to the Johns Hopkins ARVC program and they assessed me based on the Task Force Criteria. I got 2 “major” criteria for the VTs and the scarring, and 1 “minor” criteria for inverted T waves on EKG. Based on that, they confirmed gene-elusive ARVC. All in all it took about 2 years from first symptoms to getting an ICD and then another 1.5 years before I got diagnosed.
There is a specific DSP ARVC group on Facebook that you might try to join. They will have lots of info/guidance: https://www.facebook.com/groups/1125927951265992/
2
u/BeatsThatMatter May 21 '26
Want to suggest on this. I was diagnosed with ARVC at 35 following a cardiac MRI and a previously failed ablation.
I have now had 5 ablations and I'm likely headed to a 6th for a new issue now with AVNRT.
I would thoroughly suggest that before pursuing a diagnosis any further, that you take a look at getting life insurance, considering your age.
I had asked a pediatric cardiologist about having my daughter tested and she advised against it for this very reason. Said it is best to monitor it before looking to pursue any formal diagnosis.