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  • #16
    Pam -
    The thought of rheumatic heart disease being gene altering and thus able to affect future generations is interesting. I don't know if an absolute answer to that will ever come.

    Rheumatic heart disease causes damage to heart valves and in prolonged cases causes the heart to become enlarged. I would say that it more closely resembles dilated cardiomyopathy.

    Mary-
    You misunderstood what I wrote. I don't have any family members that have died of SCD. If I did, it would be relevant. What I am saying is that we should not try squeeze any cardiac death within the family into the "peg hole" labeled HCM.
    • 1995: Brigham & Women’s Hospital - diagnosed with Atrial Fibrillation
    • 2004: Falkner Hospital – diagnosed with Congestive Heart Failure
    • 2004: Tufts NEMC– diagnosed with “End Stage” Hypertrophic Cardiomyopathy
    • 2005: Genetic Test – Laboratory for Molecular Medicine. HCM confirmed – missense mutation detected in TNNT2 gene
    • 2009: Brigham & Women’s - Third cardioversion begin Amiodarone for AFib
    • 2011: Brigham & Women’s - Medtronic ICD implant

    Comment


    • #17
      Hi Doug,

      Interesting topic here. I guess i fall into the same category as yourself Doug, as i am the only confirmed case of HCM in my entire family.

      My mother's side of the family is totally clear... she and all of her siblings are well into their seventies and eighties now, and have all had echocardiograms for various reasons. There's just no sign of HCM at all, and given the size of the family and tough farming lifestyle they were raised in, one would think there'd have been at least one or two sudden deaths somewhere down the line if HCM were present.

      My father on the other hand, suffered a sudden death in his fifties, but was not diagnosed with HCM at the time. Since i was diagnosed myself, i have pretty much assumed that dad must have had it as well. Where else could i have gotten it from? There are several hints of HCM in his medical records, and looking back now i can remember him suffering many of the same symptoms that i myself have experienced. However, there's just nothing in his medical records to absolutely confirm or deny it, and none of my docs or specialists to date are willing to label his death as HCM-related with the information we have available.

      Dad was adopted, so any information that we have about his real family is sketchy at best. All we know is that his biological mom was described as a rather frail and sickly young woman, and that his biological sister died young from some sort of heart disease.

      There's no rheumatic fever anywhere in my family history.

      Do i think i got my HCM from my dad? Sure i do... and because of that i still push my brothers and sisters to get tested. But like Boz said... i can speculate all i want, but with the information i have available to me, there's just no way of ever establishing a genetic link for certain. This does bother me at times. I would love to know for sure, but never will.

      Take care,

      Jim
      "Some days you're the dog... some days you're the hydrant."

      Comment


      • #18
        Hi Doug,
        I think what you ask is impossible to answer. Today we estimate that HCM occurs in one in five hundred people – and they also calculate that around ninety percent of the people who have it do not know that they do.

        We hear all sorts of misdiagnoses from just being out of shape to rheumatic hearts to dozens of other causes. Now, if we include the realization that some people may in fact have the genetic disease but never present any symptoms, and that this malady is not very old in the cardiologist’s lexicon of ailments, we have at the very least a puzzle with most of the pieces missing and unrecoverable.

        No one can really say with any degree of conviction that they are the first of a line with HCM, nor can we say in most cases exactly who they inherited the malady from. One generation of people who have the disease but are not symptomatic and you are prior to the time when this condition was truly known. Yes, in some cases – particularly where instant cardiac death is prevalent in the family history – a person may have some degree of conviction where he got it; but overall, this is the exception to the rule.

        I would estimate that although the population of doctors is becoming more astute at diagnosing this malady, most of us have only been diagnosed after excursions down numerous false trails. To go back a generation or two, to a time when the disease was not really understood is akin to asking for information that was never known and can not now be uncovered.

        I think it would be much more fruitful to try and uncover the current generation of people that have the disease but do not know it, and working to protect and support the children of these people in the future. The question you pose is quite interesting, but I believe the answer is unknowable. Anyhow, that’s the way I see it. There is much work to be done, but it is with our eyes looking forward. Take care, - and keep thinking.
        Burt

        Comment


        • #19
          Many of my family members have been diagnosed with Rheumatic heart disease, two are my siblings who have not been tested for HCM. I myself and the brother who has HCM have not been diagnosed with rheumatic fever. We all had the same medical care as children. My brother and I were dignosed with heart murmurs in our late teens as my siblings had murmurs from birth. I wish the other two would get tested so that I could answer some of these questions.

          Pam
          Dx @ 47 with HOCM & HF:11/00
          Guidant ICD:Mar.01, Recalled/replaced:6/05 w/ Medtronic device
          Lead failure,replaced 12/06.
          SF lead recall:07,extracted leads and new device 2012
          [email protected] Tufts, Boston:10/5/03; age 50. ( [email protected] 240 mmHg ++)
          Paroxysmal A-Fib: 06-07,2010 controlled w/sotalol dosing
          Genetic mutation 4/09, mother(d), brother, son, gene+
          Mother of 3, grandma of 3:Tim,27,Sarah,33w/6 y/o old Sophia, 5 y/o Jack, Laura 34, w/ 5 y/o old Benjamin

          Comment


          • #20
            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.
            NEMC's (Boston) First Myectomy 7-22-2003

            Comment


            • #21
              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?
              • 1995: Brigham & Women’s Hospital - diagnosed with Atrial Fibrillation
              • 2004: Falkner Hospital – diagnosed with Congestive Heart Failure
              • 2004: Tufts NEMC– diagnosed with “End Stage” Hypertrophic Cardiomyopathy
              • 2005: Genetic Test – Laboratory for Molecular Medicine. HCM confirmed – missense mutation detected in TNNT2 gene
              • 2009: Brigham & Women’s - Third cardioversion begin Amiodarone for AFib
              • 2011: Brigham & Women’s - Medtronic ICD implant

              Comment


              • #22
                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
                "Some days you're the dog... some days you're the hydrant."

                Comment


                • #23
                  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
                  NEMC's (Boston) First Myectomy 7-22-2003

                  Comment


                  • #24
                    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

                    Comment


                    • #25
                      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

                      Comment


                      • #26
                        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
                        NEMC's (Boston) First Myectomy 7-22-2003

                        Comment


                        • #27
                          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
                          "Some days you're the dog... some days you're the hydrant."

                          Comment


                          • #28
                            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

                            Comment


                            • #29
                              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

                              Comment


                              • #30
                                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
                                It's not what you gather, but what you scatter that tells what kind of life you have lived.

                                Dx in Feb/99. Obstructed. No ICD, no surgeries, no family history. 2 sons ages 14 and 6.

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