HCM, but not genetic?

[littlefoot]

Hello everyone,
I seldomly post anything on here, but I'm confused by my diagnosis. I was told I have HCM however, not a single person in my family tree has it. How is this possible? Am I misdiagnosed and have something else?
Hopefully someone has had this issue!

Thanks everyone
Kate

[angusjcampbell]

Re: HCM, but not genetic?

Hi Kate
My diagnosis was a surprise and I had to learn all about it, mostly right here. There is no history of HCM in my family that we know of. Upon my diagnosis my older brother and sister complied with my pleading to be tested and were OK.

Dr Lever at Cleveland clinic says that HCM is perhaps 50 to 60 % genetic and the rest maybe due to hypertension. Again, hypertension runs in my family and I am the only one with HCM.

So others here will chime in with more clinical information and you will learn a lot more. But for now don't let the genetic card be the one you turn down unless you get more info to warrant a second opinion.

Take care and keep us posted.

[pattib]

Re: HCM, but not genetic?

I also am the only one in my family with a diagnosis, but my mother had two brothers who died of SCA at a young age. One was about thirty two, carrying a radiator upstairs, the other was in his late thirties.

[gfox42]

Re: HCM, but not genetic?

There are several ways you can have a genetic disease without any known relatives having been diagnosed with it:

• Many people with HCM are not diagnosed. This is especially important because HCM wasn't even known until a few decades ago.
• All genetic variation starts with gene mutation. It's possible to have a new mutation; then you'd be the first person in your family to have that particular form of the gene.
• "Genetic disease" doesn't mean that everyone in a family has the disease. It doesn't even mean that everyone with particular forms of a gene has the disease. What we're taught in school and in the papers (that your genes determine everything about you) is an extreme oversimplification. Characteristics of your body (your "phenotype") are affected by genes, by the environment (including other genes), and by the way particular genes act under different environmental conditions.

In other words, the fact that none of your immediate relatives has been diagnosed with HCM doesn't really say anything about whether genes are (or are not) playing a role in your HCM.

Gordon

[Jimmy]

Re: HCM, but not genetic?

I am also the only in my Family that has been found to have hcm I always have had good blood pressure. I had the gentic test done I have a abnormal gene that they said could point to a genetic issue but it was a gene that has not been linked to hcm as of yet so they told me to call if any family member has been tested positive for hcm so they can see if they have the same gene as I do.I was also told to call back in a year to see if this gene has been linked to hcm. Its got to start some where so far my sister and my children and grandchildren are clear

[littlefoot]

Re: HCM, but not genetic?

Thanks for all the responses, I just had the genetic testing done and did not have an abnormal gene mutation, so the doctor thinks it was from "being too athletic" as a kid...how can one be TOO athletic, yikes!

[ClarkDC]

Re: HCM, but not genetic?

I also have HCM, no family history, both my parents are still alive (83 and 80) and have normal echoes. Two of my siblings of four so far have normal echoes. I do not have hypertension. I underwent septal myectomy at age 56 on 1/14/2014 at the Cleveland clinic and my pathology report did not show disarray or other microscopic signs of genetic HCM. My genetic testing is still pending but I believe that my hypertrophy was produced by 40 years of endurance exercise: marathons, century bike rides, triathlons including doing the Ironman once. I have had echoes as far back as 30 years ago due to abnormal EKGs showing athletic heart changes with sinus bradycardia, LVH pattern and re-polarization changes. The echoes showed a septum of up to 1.3cm thickness thought to be in the normal range for athletic hearts. My most recent pre-op testing showed asymmetric hypertrophy up to 2.3cm with a 90 mm gradient during exercise. There is mounting evidence of heart side effects of long term endurance exercise including a 5 times risk for atrial fibrillation in marathon runners. There are also other reports of hypertrophy and systolic anterior motion of the mitral valve in athletes. No question that I could have a mutation (just ask my wife). I suspect there are more athletes out there with endurance HCM and am curious to hear from them.

[JCL969]

Re: HCM, but not genetic?

I too have had echo's from 2 and 4 years ago that showed my septum around 1.2cm and most recently it is somehow 2.3cm. In fact in my prior echo's I was told my heart was normal size and shape and in fact very healthy looking from my working out. In those 4 years I took up cycling and would ride 50 miles weekly, if not more often as weather allows, as well as a few centuries mixed in. If this is somehow caused by too much exercise, can it go back to more normal levels with less exercise? Or once the muscle thickens does it stay thick? I guess my concern is if it has thickened that much in the past few years is it continuing to get thicker, or as I have been told maybe they weren't looking for HCM in the prior echo's and the measurements weren't accurate in the old echo's.

Until my most recent echo I would always fast before hand and my results weren't too bad, the last echo I ate a big meal before and it showed the obstruction clearly. So that and the exercise are the only things that changed.

[gfox42]

Re: HCM, but not genetic?

HCM specialists are able to distinguish between hypertrophy due to athletic activity and HCM. See, for example, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1769182/.

Gordon

[JCL969]

Re: HCM, but not genetic?

Out of curiosity, what is the approximate cost of genetic testing? I have my appointment in a few weeks where they probably going to go through that end of things. I am not sure if the price varies or is a set thing.

-Jason

[NikolaRDH]

Re: HCM, but not genetic?

They quoted me about $2500 for my genetic test, but luckily my insurance covered it all since I had already met my out of pocket max for the year. My family is scheduled to have theirs tested, since a gene was found in me, and it much cheaper. I believe less than $300.
Nikola

[JudyA]

Re: HCM, but not genetic?

spoiler alert! this may be considered a rant.

I have been bothered by this concept for a while. I was very symptomatic, bad asthma like symptoms, fatigue, exercise intolerance, palpitations, chest pain before I was diagnosed. When I was diagnosed and learned about HOCM, I was told that it was not of my own doing, I didn't cause my health problem, it is genetic. I had an ASA and I was comforted that I had not caused my own illness, and pressed on to do the best I could do. I understood from the experts (mostly on these boards) who have sung the praises of all HCM -COE docs from the rooftops, as the ones who really understand HCM. I accepted the "truth" that HCM was genetic, and I have worried myself to death that one of my children or grandchildren would have it also. I have preached the "get tested" to all of my relatives, telling them all of the "facts" of HCM.

I had genetic testing done, but there was no clear HCM mutation found, and still I was told that my mutation has probably not been identified. The mantra always continues- "HCM is genetic". I was told at my COE that my chances for sudden cardiac arRest were not very high- didn't need a internal defibrilltor. Have spent the last 7-8 years learning, spreading the word, to anyone who I could get to listen.

I have been out of touch with the boards for about 10 months, being busy following the advice of my COE doc- lose the weight however I could - weight loss surgery being one choice. I had that surgery- lost 50 pounds before surgery 50+ since, and while i feel better, I still have some symptoms from time to time. this was a life changing ( and irrreversible) surgery- I can no longer eat more than a cup of food at one sitting which is hard (because I love food, and love(d) to eat).

Today, at this very moment, while reading this post, I read "Dr Lever at Cleveland clinic says that HCM is perhaps 50 to 60 % genetic and the rest maybe due to hypertension."

HYPERTENSION??? i have done all of this because of hypertension?? I feel like a complete and utter fool. I feel betrayed. I have done all this worrying, preaching and ultimately surgery, to treat something caused by hypertension? Since I have no "smoking gun" genetics confirmation, and no history of sudden cardiac death in my family thus far. i MUST BE ONE WHO HAS HCM( IF HCM TRULY EXISTS)from the other causes- like hypertension. Or maybe HCM is just a result of being FAT! And so, I have been preaching lies to everyone I meet? Maybe my reaction is just a matter of injured pride- I have been "informing people" with the wrong facts. I don't like doing foolish things- I don't think anyone wants to be thought of as foolish. So maybe this is a pride issue alone.

Since I saw my COE doc just before surgery, it is really too soon to go back for any reevaluation( both from a need basis, and an insurance issue). and maybe I don't need a COE for HCM at all- or a cardiologist, or anything!

what a great start to my day.

JudyA

[gfox42]

Re: HCM, but not genetic?

Hi Judy,
Take a deep breath.

I wouldn't take a comment on a bulletin board that someone (yes, a highly respected specialist - in fact, he's my specialist and I have great trust in him) said X, as evidence that X is true.

Besides, even taking this report at face value, it doesn't tell us a thing about the role of genes in your HCM.

Finally, regardless of how HCM is caused, it still seems clear that it's important to control our blood pressure and our weight!

Gordon

[angusjcampbell]

Re: HCM, but not genetic?

spoiler alert! this may be considered a rant.


Today, at this very moment, while reading this post, I read "Dr Lever at Cleveland clinic says that HCM is perhaps 50 to 60 % genetic and the rest maybe due to hypertension."


JudyA

I am the one that posted that comment based on a video on the Cleveland Clinic website video under the page for Dr Lever. The YouTube link for the very same video is easier to navigate to ....

http://www.youtube.com/watch?v=AJg86trvvsY

My paraphrasing was partly inaccurate. Dr Lever said that 50-60% of HCM was genetic and I reported that "the rest maybe due to hypertension", but he really said that "in many cases it's a genetic disease, but not all. (and the video caption stated 50-60%) In some patients it may be related to hypertension, particularly in elderly people".

The takeaway that I got from the video is that it is not necessarily genetic and that resonated with me since I am the first in my family (that I know of) with HOCM. I have also been battling hypertension for years. I'm sorry if my paraphrasing suggested a stronger case for Hypertension than Doctor Lever meant, but the point remains that it is not always genetic.

[Cynaburst]

Re: HCM, but not genetic?

I also think that there is a bit of loose use of language going around here. Hypertension does not cause HCM EVER. Hypertension, can however, cause remodeling of the cardiac tissue which causes it to thicken which might LOOK something like HCM on echo or autopsy. However, it is not the same thing as HCM which starts at the cellular level.

My own uncle drowned on a public beach. He in all likelihood had HCM The genetic basis for HCM has been confirmed by myself, my father, and other relatives. However, his autopsy report, which I have read myself, said that he had hypertrophy caused by hypertension. As far as anyone knows, he didn't have hypertension. And since the rest of the family has a gene that is associated with HCM and several of us have actual symptoms, I am quite sure that what he had was HCM but some pathologist said that it was due to hypertension. So, I guess the same thing can happen the other way...some people have cardiac remodeling caused by hypertension which is not actually genetic HCM. Now, I don't know whether that can also cause obstruction and arrythmia in the same way as HCM. Maybe it does, maybe it doesn't. But if you have symptoms, you gotta treat them somehow. And it seems that if you have an obstruction, it has to be relieved. If you heart is obstructed and you had a septal reduction procedure, that was to treat the symptoms of whatever you have, genetic or not.

So, I think you are in the same place either way.