HCM gene

[cynthiaG]

I was wondering if someone could verify this...I've heard that there is a 50/50 chance of a parent with HCM passing it onto their children....If say, one child out of four gets the gene and condition and the others do not, can those children still have ("carry") the gene and pass it on to one of their children who might develop HCM?

[Reenie]

Re: HCM gene

Cynthia,

You asked a good question. The research to date shows that if you carry the gene, you will eventually show HCM. BUT there are rare instances where people carry the gene and do not show clinical HCM. Personally I wonder if that is a case where the HCM isn't as advanced as in other cases and you can't "see" the effects. I think if you were to take a biopsy of the septum you would probably find the jumbled cells that makes the muscle thick to begin with. That's my thoughts, not from anything I have read. I'm sure someone else will jump in with more thoughts and statistics soon.

Reenie

[Lisa Salberg]

Re: HCM gene

well not so fast...
It is not as rare as we once thought... the number of those diagnosed with "adult onset" HCM makes us step back and revisit this issue.
We really do not know HOW many cases of "gene carrier only" there are... it will be many years until we figure this out.
More later.
Lisa

[kthanki]

Re: HCM gene

Question is:

If my parents don't have it. My siblings don't have it. My first cousins don't have it... and I am the only Mutant ...
Should my neices and nephews be tested?

I know my kids should be tested but what about other kids in the family...

[Lisa Salberg]

Re: HCM gene

You may in fact be the the ONLY mutant in your family...now dont you feel special....I myself and just one of a bunch of mutants....

I would suggest your parents, and sibilings keep an eye out and be sceen every few years ...just in case of adult onset... and YES your kids must be screened.

Be well...
Your friendly Mutant..Lisa

[Reenie]

Re: HCM gene

Question is:

If my parents don't have it. My siblings don't have it. My first cousins don't have it... and I am the only Mutant ...
Should my neices and nephews be tested?

I know my kids should be tested but what about other kids in the family...

You're funny. I just wanted to share my husband's story with you. He was diagnosed 3 years ago. At that time his parents had both had echos done for other reasons within 5 - 10 years of his diagnosis. Neither of them showed any HCM.

My husband's case is very remarkable in that his septum is about 3.8 cm. That's huge! So you would think that it would be easy to trace where this came from, right? Well, we gradually came to think he was the only mutant (or freak in my words) in his family.

Fast forward to last fall. His 90 year old grandma fell and broke her hip. While in the hospital they decided her fall was from her heart rate falling. They did tests, including an echo. Her septum is 1.8 cm. That's HCM. So now at least we know he isn't the only mutant in the family.

Now, as far as his mother goes, she won't get tested again. I don't know if they overlooked the HCM last time or if it hadn't shown itself yet, or if she's a "carrier" of the gene who won't ever express it. Either way, my husband's sister and her daughter have been screened and will continue to be screened every 5 years or so just in case. His brother doesn't see the purpose in screening unless he or his kids have problems. That's his choice. The best I can do is to give him the information that I have. That's all you can do too.

Reenie