Genetic testing for Hypertrophic Cardiomyopathy (HCM)

Hello @ipizza and others. Not relating directly to your question about the test kits but relating directly to the question of genetic testing: I was diagnosed with OHCM just under a year ago and have been on Camzyos/Mavacamten (see that discussion thread) since September 2023. Symptoms started about 16-17 years earlier. I'm one of the lucky ones that Camzyos made EVERYTHING go away. I looked into whether to do genetic testing or to have my 2 kids (late 20's) have genetic testing done. They are both symptom-free so if the they inherited HCM from me it isn't showing. It seemed to me that there was little benefit, at least at this time, in my specific case. But (a) I have no medical expertise, and (b) this should not be interpreted as advice to anyone else - just my thoughts about my own situation. Rationale:

Suppose they test positive in a gene test. If they aren't symptomatic, the advice seems to be, get an echo/ECG every few years (5, I think) to watch for it. Suppose they test negative. The advice seems to be the same - they might still have inherited it on an untested gene, so get periodic echos/ECGs to watch for it. In either case, if they do get an HCM diagnosis, the genetic test is a moot point - yep, they've got it.

Suppose they don't do genetic testing. The advice is the same - they might have it since it is often inherited, and they should get periodic echo/ECG testing to watch out for it.

Even if they do become symptomatic and get an HCM diagnosis, what then is the point of them doing genetic testing? Perhaps if they want to avoid getting pregnant and passing on the gene, it would make sense. But otherwise, I'm not sure I see a benefit. Thoughts? Have I missed something obvious? (And yes, I can certainly ask my cardiologist.)

Here is my opinion, I commented a few days ago, too. The idea of genetic testing for HCM, as you know well, is to find out if you have a mutation in one of the 123 known genes as of 9/2022 that cause the condition, there may be more now. If you do, your children and other blood relatives can be tested to see if they have the mutation on that gene. If you share the same mutation, the knowledge makes monitoring is a good idea. If they did not inherit it, they cannot pass it on. You certainly weighed on all of the possibilities! My cardiologist was very glad that I was proactive and glad my son and grandson were as well. Another thought is that you were diagnosed less than a year ago. It is often a progressive condition, in about 15 years I went from a new heart murmur to a septal myectomy. Good luck with whatever you decide! Remember, if you decide not to genetic test, you can change your mind later on. BTW, my mutated gene is an unknown one at this time, that can happen to you, too.

Thanks for your well considered reply @walkinggirl. I'm certainly not at all against testing and I firmly believe there are really good reasons for some folks to get it done. When I was diagnosed, I got a letter to send to my family members to give to their family doctors which recommended regular echo/ECG monitoring but didn't say anything about genetic testing. But if my cardiologist recommended it to me, I would be beating down the doors of the nearest lab. I send you sincere best wishes wherever your condition and treatment take you. I just re-read one of your posts and I can only hope I am half as active as you when I get to 77!

My cardiologist did not recommend genetic testing to me, the opportunity was presented to me by Dr. Schaff, the cardiac surgeon who performed a septal myectomy 7/22. When I reported the results to my regular home cardiologist, I think he was surprised but glad that this took place. He recommended that son and grandson get echoes every 5 years for now. Perhaps you may wish to bring up genetic testing at your next doctor visit, I am beginning to think that our regular cardio caretakers may not routinely suggest it.

I would suggest you see a cardiologist and have them do a full work up with you which includes an ECHO most likely. I have HCOM and have responded very positively to Camzyos. Along this journey, I had genetic testing and they could not find the mutation. How did that help me personally? I was told the cost would be $200 and it was almost 2,000 dollars. Unbelievable. My two adult children had ECHOS to establish their heart risks and they are both clear of HCM. Good luck with your care.

Perfect answer. You forgot to mention, a positive result may affect their ability to get life insurance in the future. We (thank goodness) cannot be discriminated for this with healthcare but can be for life insurance policy’s.

Not only life insurance, but long term care insurance as well. Many years ago husband and I bought long term care insurance through my workplace. He had no health issues but I had moderate osteoporosis at the time, premiums were higher. My heart issues developed much later and he developed a few blips on his health status, too. I do not think I would have been granted coverage once the heart issues became very serious.