Genetic Markers

My test results for genetic markers are negative. But my adult children are being checked for HOCM periodically.

I'm no doc, but my understanding is that most hcm specialists believe hcm is genetic, even for patients like you and me for whom no genetic cause has been identified. I believe that about half of people tested do not show a genetic marker, but the thinking is that there are likely genetic variants causing the hcm that haven't been identified yet, so the existing genetic tests show negative results. Three of my 15 maternal-side first cousins died suddenly at about ages 50, 55, and 62, so I suspect hcm for them now that I've been diagnosed.

Genetic markers for HCM? None for me either, 123 genes were checked. It is quite possible that the marker you may have and the marker I may have (could be the same or could be different), just have not been discovered yet. I was told to recheck in 5 years.

My grandchild, too, gets echocardiograms for the lack of genetic markers for me.

I tested positive for genetic testing for HCM. I've notified all pertinent relatives. They have gone to cardiologists to be tested. Why then do I need genetic counseling?

Genetic or not on me, my uncle, my father, his cousin died with a heart attack. They were taking the same medicine I take beta blockers and the doctor said to me it appears high probability it runs in my family on my father's side. I am doing great now with Camzyos 5 mg for 7 months and I have not had any angina since I started that medicine.

I was just diagnosed for HCM last fall and just received genetic test results and like you, 30 genes tested negative. I was told about 50% of tests are negative because there are many undiscovered genes as yet, All that really means to me is that my adult children and grandchildren don't have to do genetic testing, unless they began to show symptoms of HCM and also it would be a good idea for them to have an ekg and an ECHO sometime in the future especially if my HCM worsens. So I guess we shouldn't worry too much about it and maybe be thankful?

Yes, you are so correct that many HCM genes are probably undiscovered. After a septal myectomy, I had 123 genes tested, I was referred by Dr Schaff, my surgeon. All were fine and it was suggested by Lauren, the Mayo counselor, to recheck in 5 years, more may be discovered. If the naughty gene can be found, children are to be tested to see if they have that mutation. If any do, they have HCM. If not, the "buck" stops there. Offspring of the errant gene holder also need to be tested. I do not know if HCM manifests itself the same way at the same pace in each family. My son gets an echo every 5 years, grandson, a teenager, every 2. I hope this helps, do read up on it

I would like to add that a walking friend of mine unfortunately about 20 years ago lost her husband suddenly to undiagnosed HCM. Her 2 sons were tested as well as her husband's brother. One son has it, the brother has it and one of his 3 children does as well. As you can see, each family member is a unique gene receiver.