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  • hbos0527
    replied
    Hi, my husband has HOCM and is the only person we have been able to find with the disease. Both of his parents are very healthy and his grandparents lived to ripe old ages. Paternal grandmother just died at 92 and grandfather is still alive at 93. Maternal grandmother is 85 and grandfather died of a brain tumor 20 years ago. My husband has many aunts, uncles and cousins and nothing, including rheumatic heart. His paternal grandfather did have a "heart attack" at 43 but is still alive. Interestingly, my husband is Dutch on both sides of the family. I think I was reading in another discussion about this connection to dutch hereitage. Anyway, It would sure be nice to know where it is coming from, if for no other reason but to just know.

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  • Burton Borrok
    replied
    Hi again Doug,
    Let me have just a word and then we can all address the rheumatic heart issue, if anyone wants to chime in. I truly hope they do, as that is the main topic.

    When I used the word propensity – it was in regard to the gene set of a person who did not themselves have HCM, but had a leaning if you will in that direction, so that their children might in fact be born with the HCM deviation.

    I do believe that genes have the ability to change their conformation to some degree from generation to generation, causing children to have a variation from their parents - Ergo spontaneous mutation. I’ve heard arguments on both sides of this issue, and so far at least, that is what I choose to believe.

    Okay – anybody want to comment on the rheumatic heart issue? Anxious to hear.
    Burt

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  • dughr
    replied
    I would absolutely agree however that further study is required to identify all the genes that play a part in this disease, their commutations and permutations
    Burt, you answered your own question right here.

    combinations with a propensity toward producing offspring that are ‘spontaneous mutants’ from parents that are not HCM sufferers themselves.
    By definition, spontaneous mutations bring with them no 'propensity'. They are just that, spontaneous.

    Sorry people, I still don’t see how it could rationally matter whether you inherited the disease or are a “spontaneous mutant.” You have it either way. (I said ‘rationally matter’ – ridiculous rules not withstanding.)
    I don't know what you mean by 'ridiculous rules', however, it is the very foundation of your argument I quote above. Further study includes genetic research and understanding how this disease jumps into the genome or how it is passed on. Like it or not, gene therapy is on the horizon and without diving into bio-ethics, some diseases -perhaps HCM- can be better understood if we look into the past to (at a minimum) predict the future. Maybe even know our son or daughter has the gene and take prophylactic measures to preserve life.

    I will bow out of this conversation now and still encourage anyone who has information regarding the connection to rheumatic heart in your family to chime in. I, for one, would like to hear what you have to say on this topic.

    Best,
    Doug

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  • Burton Borrok
    replied
    OK people,
    Maybe I’m all wet on this. (That’s why I love these discussions so much; - I just might get to learn something new.) However, that said, I still don’t see the forest – there’s just too darn many trees in the way.

    Jim, you say if your mother proves not to have the HCM gene’s you have, it will prove that you got it from your father. How come? To me that would still leave open the possibility that you are a ‘spontaneous mutant’, and if a sibling had it too, couldn’t you each have ‘spontaneous mutant’ genes? Possibly your genetic makeup, and those of your siblings, is susceptible to developing this variation – even if your father did not have the actual condition himself.

    Because your dad suffered sudden cardiac death at a young age – and not being able to now make the determination if it was HCM or not, - to my way of thinking this should not preclude your being able to get an AICD. The possible risk should be enough to at least give you that option. It’s not really a treatment after all, it is a safety net.

    If you had something from your father, such as a hairbrush where you could glean some hair on which genetic testing can be done, or some clothing stained with his bodily fluids, or something like that, you could still nail down the possibility of his having the same HCM variant set of genes that you do – but whichever way you got it, just the fact alone that he died a sudden cardiac death should do it for you being able to get your safety net. Don’t forget, this disease has not been identified for all that long a time yet.

    While we are on the subject, I suspect that many of the cases of “spontaneous mutant” are truly the descendants of people who had HCM but displayed no symptoms their entire life – or at least never had the diagnoses. Nature is always trying to improve the species (whatever species that is) by playing gene games – and natural selection then tends to let the more able survive better. This does not always hold true however, as most HCM and other people with genetic disorders live long enough to at least breed - if not live their entire normal life span. I guess it would matter to a caveman who had to keep up with the pack, but this is not true in today’s world.

    If there is some rule that says you can’t get an AICD unless you can prove beyond any doubt that you’re family members that died a sudden cardiac death did so because it was proven that they had HCM – that rule is ridicules and should be abolished. How can you tell if they had HCM if they died before the condition was known to exist and you have no material on which to run a test?

    Sorry people, I still don’t see how it could rationally matter whether you inherited the disease or are a “spontaneous mutant.” You have it either way. (I said ‘rationally matter’ – ridiculous rules not withstanding.) I would absolutely agree however that further study is required to identify all the genes that play a part in this disease, their commutations and permutations, and any combinations with a propensity toward producing offspring that are ‘spontaneous mutants’ from parents that are not HCM sufferers themselves.
    Burt

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  • Abbygirl2
    replied
    Wow, so much to take in.
    Jim, I, like you believe that knowing my family's health history is very important to my treatment, and that of my childrens'. I had a great aunt who died in her 20's(with different causes of death-depending who you talk to), and an uncle who was a strong, athletic farm-boy and could swim like a fish that drowned at age 17 in chest high water.

    I know we will never know for certain but if somehow there is a shred of a chance that research-genetic or otherwise could take us back in the past a bit, I am all for it.

    When I was first diagnosed, I thought I should have been given a 1000+ page questionairre asking me everything about my life, even the small seemingly useless details. Discussing stuff like this could someday reveal something that one day may be detrimental in the diagnosis and treatment of HCM.

    There may be something in our pasts that we all have in common, and its just sitting there waiting to be discovered. If you keep searching eventually you will find the needle in the haystack.

    My uneducated two cents.

    Have a good day all.
    Pam

    Leave a comment:


  • Laoshur
    replied
    Just another quick thought:

    This would make an interesting and potentially very successful high school science fair project.

    If anyone is interested, let me know. I have some ideas as to how it could be done.

    Rhoda

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  • Laoshur
    replied
    I think that the general conception of how rheumatic fever works is not really that it is really caused by the strep germ attacking the heart or other systems. Instead, it is thought to be an inflammatory response, really an autoimmune response. The idea, as I understand it, is that the antigens on the surface of certain strains of strep are similar to the antigens on the surface of human cells. As the person recovers from a strep infection (or any other infection that causes a normal immune response), their body manufactures cells that will recognize and attack any future invaders. This is why most of us had repeated strep infections as children, but have few, or none, or less virulent ones as adults.

    However, since the antigens on the strep bacteria cells are similar to human cells, the antibody-bearing cells that were formed, begin to attack the person's own cells. It is this attack from your own body which is rheumatic fever, not the strep infection itself. Supporting this idea is the finding that rheumatic fever does run in some families. The idea is that perhaps the antigens on these people's cells are more similar to those on the strep germ than usual.

    So, another thing to consider could be whether any connection between HCM families and rheumatic fever families could be due to a cause and effect relationship or could be due to closely linked genes. Just another crazy hypothesis, but worth throwing out for the sharks among us who like such things.

    Rhoda

    Leave a comment:


  • mtlieb
    replied
    Hi All,

    So you dig and finally find incontrovertible proof that you inherited the gene from one particular parent. If you will pardon my bluntness – so what? Do you stop loving that parent or the family he or she is a part of? What does it prove? Who does it help?
    Actually, finding out this information would have a direct impact on my treatment, and perhaps that of my son as well should he ever be diagnosed with HCM. Let's say that through genetic testing my mom is found not to carry the gene, but one or more of my siblings do carry it (even if not expressed). We would learn two very important things from this: First, that i am not a 'spontaneous mutation'... and secondly, that the gene was passed down from my father.

    Why is this important? Because dad suffered a sudden cardiac death at a young age that cannot as of yet be directly attributed to HCM. It is for this reason that i am not considered to be at risk for sudden death, despite my abnormal blood pressure response to exercise, and i do not as of yet have an ICD. Linking dad's death to HCM would therefore be quite important to my own treatment, and that of future generations as well. Since dad was adopted... how do i know that there aren't dozens of HCM-related sudden deaths in my recent family history?

    It's kind of scary to think about, and frankly, i don't want to suddenly discover in ten years when it's too late that 'Oops... i guess this is what killed dear ol' dad after all!'

    At any rate, these are just my own thoughts on the matter. Nice discussion here!

    Jim

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  • dughr
    replied
    Burt,
    Having the genetic testing done is not 'gee whiz' stuff. It has merit. I do not disagree that to focus on our progeny and the likelihood they have this genetic mutation is not the main issue, however, we can look back through genetic testing and examine the facts. The more people who have the testing done the more statistical data we have to analyze. The more statistical data we analyze the better we understand the genetic link and -PERHAPS- some hypothesis on what causes a spontaneous mutation. So in my humble opinion, idle curiosity is a good thing. It is idle curiosity that has changed how we look at life and our planet. If science didn't exploit idle curiosity we would not have found some of the most astounding revelations discovered. Also, if this means I inherited this from my Mom and her family...I still love her as much as ever. Enough to make her go get a more thorough exam in fact, one she drags her feet on.

    Doug

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  • Linda
    replied
    I wouldn't be surprised if people with HCM were more likely to have rheumatic fever. After all, the rheumatic fever usually was a result of a Strept infection attacking a heart valve. Now we all know about premedicating before dental procedures, etc., so wouldn't it seem more likely that the HCM heart would be less able to fight off the complication in those days before antibiotics? So instead of it being a case of a wrong diagnosis, could it be just a partial diagnosis where the rheumatic fever was diagnosed and left at that? No further investigation was done to find the HCM was there also? Linda

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  • Burton Borrok
    replied
    Hi Doug,
    You are of course absolutely right, and I do not question your remarks. But the testing that has uncovered the truth in old trials and commitments, as I understand it, was done on available DNA samples. I expect some identification could still be done on existing material in some cases, such as hair kept as a remembrance, or clothing kept in police storage – but otherwise once a cadaver has been buried for x-number of years the chances of discovering anything are slim to none.

    I agree that research, by and large, is a good thing. In this particular case however I can’t see spending much money on what at least appears to me to be idle curiosity. So you dig and finally find incontrovertible proof that you inherited the gene from one particular parent. If you will pardon my bluntness – so what? Do you stop loving that parent or the family he or she is a part of? What does it prove? Who does it help?

    Undeniably, genetic testing has an important part to play, but I think it is in the forward looking area of research – If I have it, how many of my children also have it? And yes, it obviously can now make determinations in serious crimes that could not be done at the time the crimes were committed, but that was not the original goal of the research. It was more serendipity – which happens all the time in research and experiment. The radio tube was invented because a piece of metal got stuck in the glass of a new light bulb, and the curious effects were examined – and look what grew out of that.

    Bottom line in my opinion, research should endeavor to understand the world we find ourselves in today – and if we uncover any other uses or useful information as a result – well yeah for our side.

    One last remark – I greatly admire your inquisitive mind, and hope one day you personally uncover a great new universal truth. I also admire your ability to disagree with someone and express your own views on the matter. Frankly I look forward to further discussions with you, and expect in most things we will find ourselves to be comrades-in-arms.
    Burt

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  • dughr
    replied
    hey Boz,

    I have considered it. To be honest, I have only put it off because of all the other things going on in my life this year. Lost some people close to me and had a pretty rocky year. Given the fact that I live, breath, eat and even dream genetics I know how illuminating the test can be and I do want it done. I definitely plan on having it done when things settle down a bit. Let us know what you find out. Are you having that done at Brigham by chance? I have heard a female doctor/researcher over there has been doing them quite a lot. They do some intensive genetic research on HCM in mice where I work and I get to attend lectures often on the findings. It is very interesting.

    Incidentally, I also had what they called a "narrow window" in my echos. There is one tech at NEMC who is an expert however, and she has always been able to get good pics. I guess it does depend on the tech and there abilities.

    Oh, and Jim, but if he did (Pythagoras) we never would have been able to find the hypotenuse of a right triangle!
    Doug

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  • mtlieb
    replied
    I find the whole idea of a link between rheumatic heart and HCM pretty fascinating myself. It seems quite plausible to me that pasts incidences of rheumatic heart in the family tree could very well have been HCM in actuality, especially given the diagnostic methods of the time.

    What if we were to discover that a history of rheumatic heart is ten times more prevalent in families who currently have confirmed cases of HCM? Maybe it's not information that is going to be immediately helpful to us and our own diagnoses, as Boz and Burton pointed out... but it could most certainly spawn new research and technologies that will lead to substantial advancements in our understanding and diagnosis of HCM, or even the causal mechanisms behind the mutation itself.

    On the other hand... maybe the Earth really is flat, and Pythagoras should have just minded his own business.

    Interesting topic!

    Jim

    Leave a comment:


  • Boz
    replied
    A perfect segue back to the topic of genetic testing as it exists today.

    The test, offered right here in Cambridge, is being done on my own blood as we speak. Answers should be in before the end of the month. The long delay (2 months) was attributed to getting my brand new PCP to sign off on it. With her referral HPHC Insurance will pay for all costs. This lab does not actually bill 3rd parties; I had to give them a credit card number, but HCHP will reimburse for this test as long as the PCP Dr says it is medically necessary.

    I am hopeful. Optimistic that Drs will have some new important facts for me. I embrace all new technologies and see this test as an invaluable diagnostic tool. I would hope that anyone wondering about their own diagnosis would be equally optimistic. When members of the population group that stand to benefit from this test actually doubt its accuracy it should come as no surprise that some Insurance companies show a reluctance to pay for it.

    I think this test should become routine as should the use of cardiac MRI’s. To think that the echocardiogram is the state of the art diagnostic tool today is not – to me – reassuring. I was in the room with my 18 year old son for his screening this summer. He is a 230lb conditioned football player. They had a horrible time getting any image of his heart. He was, after more than an hour, declared clear, but the Report Summary begins: “Poor acoustic windows”

    Doug - Have you considered this test?

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  • dughr
    replied
    Sorry Burt, I disagree. Science uncovers answers all the time from new technologies, applies them to old questions and finds new answers. The question I pose is not unanswerable, it was a question to find out how many of the folks who have this ailment also had something like this in there past. It isn't to say because they do this is the genetic link. It is simply a new way (for me at least) to look at things. I am a molecular Biologist and do genetics for a living. I know one can't draw any conclusions from it, but the more discussion there is and the more connections revealed perhaps new ideas will emerge. DNA testing was not done 20 years ago and now with the new technology they are solving age old murders that at the time seemed beyond solving. It is important to look at ALL aspects, and not close your eyes to ANYTHING.

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