Arrhythmogenic Right Ventricular Cardiomyopathy with MYH6 and RBM20

Get to the Mayo as soon as possible. I have experienced episodes of sudden cardiac arrest. I had hypertrophic obstructive cardiomyopathy. I experienced a missed diagnosis at my local hospital. Mayo was my life savior.
Please do not delay going to Mayo.

I had a missed diagnosis at my local hospital for 3 years and got diagnosed at Hopkins - I plan on moving to MN soon for all of my care because of how things have been - i.e, continously being given things that make my heart worse, not listened to, ignoring signs of HF, etc. I am still very young (OOHCA at 18 y/o) so I want to make sure I take care of my heart as long as possible. I know ARVC comes with heart transplant in some cases, and given my other comorbidities (I also have an autoimmune disease) I'm afraid I am getting worse to the point that may be in the cards. I was at the ER the other day and the doc asked me if I was listed for tx and it caught me totally off guard.

Welcome to Mayo Clinic Connect @casscond, I am glad you found this forum, but I am sad you can't find your exact condition. It sounds pretty rare, and there isn't a specific support group for every diagnosis.
Wow! You certainly had a close call it sounds like! And that you had to ask for genetic testing, and were misdiagnosed for several years? Crazy! While we wait to see if another member with your condition pops in here, I assume you have dug in and tried to read everything you can get your hands on, have you read this from the NHI?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5063271/
You mention you are transferring your care to the Mayo Clinic, do you mean Rochester? Have you had your doctor send a referral yet? It can take time to be seen, and the sooner you get in the system the better for you.
I have HCM, and similar to you fell through the cracks in my local town. I was misdiagnosed with five different heart conditions and was finally diagnosed with a rare heart condition, Sub-aortic membrane and told I needed open heart surgery right away. When I ask for a second and third opinion, I did not have Sub-aortic membrane, I had HOCM, and the Mayo Clinic was my final stop. I am so grateful I listened to my inner voice and pushed for referrals. I am a passive person, but I knew I had to be my own advocate.
Do you have confidence in your doctor to ask for a referral to Mayo? Are you able to be active despite your condition?

Oh I have found my heart condition - it is called ARVC! I was diagnosed at JHU and plan to have all my care transferred over when I graduate college in May. I also have very weird abdominal issues - which I think are connected to how my mom passed as she started having them at this age. I cannot be very active right now - for some reason the past month I have felt very sick. With ARVC I am not supposed to exercise or work out as it contributes to progression of the fibrofatty infiltration of my heart, so it's tough.
I self referred myself to JHU ARVC clinic to get diagnosed so even if they don't work out - I can usually figure things out haha
I'm glad you got to come to Mayo to get your heart taken care of!

Doctors sometimes are fully booked for months. My doctor NEVER received the emailed referral that was sent twice (too many pages did not go through I guess) so I visited in person to the new Cardiology Center and took the referral of 40 pages with me so they scanned and uploaded the referral creating my file. Notice you may need to do the same thing so I was able to be seen as emergency by the new Cardiologist in only 3 weeks waiting time. He is highly specialized in Obstructive Hypertrophic Cardiomyopathy so he gave me 3 options: start treatment with a capsule named Camzyos, or have alcohol ablation invasive heart procedure or have open heart surgery. I am almost 65 years old with this problem that was under control for about 15 years but after I had Covid 19 last year it got out of control with a septum basal diameter size of 2.2 cm (almost 1 inch!!! blocking my lower left ventricle of my heart). I am on strict diet and lost 20 pounds in only 2 months and I walk 2 miles daily which all of that helps a lot. I chose Camzyos which in only 1 week made me feel so much better able to brief better and the angina was gone!!! no more chest pain, no need of open heart surgery!!. In only 8 weeks my basal septum size reduced in diameter size from 2.2 cm to 1.6 cm so I now have color on my face and brief a lot better (even when I have severe sleep apnea). I am now 6 months on Camzyos 5 mg (once a day) and my life is so much better that I do not ever want to stop taking that medicine. I hope God protects you so you can take the doctor referral in person to the Mayo clinic (specifically the Cardiologist office) to visit them so they can upload your referral and expedite an appointment for you so you do not have to wait months. Best luck to you and I hope you feel better soon.

Thank you for sharing that!! I'm so glad they got you to feeling better and you're doing good! I can tell my heart has gotten worse this summer and every time I get sick (mine increases risk of infections as well as my preexisting autoimmune disease) it hits me like a train. I will definitely keep that in mind about the referral - didn't think about that

Time is crucial in the heart condition. Please take actions as soon as you can. If you can fly asap with a copy of your referral and upload a copy to your email so in case you lose it by accident you can still print another copy of that to give it in person to the Cardiology office. Please do not waist time. God bless you.

I will make sure of that - my records are extremely long since I was in a coma due to my cardiac arrest and lacked a diagnosis for 3 years after my SCA so it may have to be on a flashdrive but I will make sure of that! Thank you somuch again

You are always welcome!

Hello @casscond, I'd like to add my welcome as well.

You have mentioned seeking care at Mayo Clinic in a few different posts. Have you already gone through with the appointment request (http://mayocl.in/1mtmR63)? There are a few different options for requesting an appointment. You can self refer or have a physician refer.

There is also a referring physician portal where your current provider can share: Clinical notes, Discharge notes, Patient itinerary, Radiology and pathology reports, Test results, Surgical summaries and Visit summaries. It is called Care Link (https://carelink.mayoclinic.org/). If you have a physician that is open to helping and giving you a referral, this may be a resource you could share with them if they are willing to take the time to use the portal.

Appointment demand is high, so appointments may be more difficult to come by. However, if you are granted an appointment you can also bring your records with physically to your appointment (CDs, disc drives, etc.). This is always a good option in case something is lost digitally in the process.

@casscond - you are facing a lot of tough medical situations on top of getting close to graduating college. How are you finding ways to cope with what surely seems like a lot of stressful things to manage as a young person?