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Genetic testing for Hypertrophic Cardiomyopathy (HCM)
Hypertrophic Cardiomyopathy (HCM) | Last Active: May 19, 2024 | Replies (17)Comment receiving replies
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.)
Replies to "Hello @ipizza and others. Not relating directly to your question about the test kits but relating..."
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.
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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.