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Genetic Test Results

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Boz Find out more about Boz
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  • Genetic Test Results

    As I mentioned in an earlier post, I started the new year by having a blood sample sent to the Laboratory for Molecular Medicine in Cambridge, MA for the Hypertrophic Cardiomyopathy Genetic Test.

    I recieved a phone call yesterday requesting that I come in to meet with Dr. Ho to discuss the results. A mutation was found.

    I will know more on Thursday.
    • 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

  • #2
    Wow! I hope you get more answers on Thursday. Please keep us posted.

    Reenie
    Reenie

    ****************
    Husband has HCM.
    3 kids - ages 23, 21, & 19. All presently clear of HCM.

    Comment


    • #3
      I am glad you have the information and I hope it is helpful to you and your family.

      Best wishes,
      Lisa
      Knowledge is power ... Stay informed!
      YOU can make a difference - all you have to do is try!

      Dx age 12 current age 46 and counting!
      lost: 5 family members to HCM (SCD, Stroke, CHF)
      Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
      Therapy - ICD (implanted 97, 01, 04 and 11, medication
      Currently not obstructed
      Complications - unnecessary pacemaker and stroke (unrelated to each other)

      Comment


      • #4
        Oh Man how lucky you were let us know more after your meeting

        GOOD LUCK

        Shirley
        Diagnosed 2003
        Myectomy 2-23-2004
        Husband: Ken
        Son: John diagnosed 2004
        Daughter: Janet (free of HCM)

        Grandchildren: Drew 15,Aaron 13,Karen 9,Connor 9

        Comment


        • #5
          A lot of questions were answered yesterday by Dr. Carolyn Ho and her assistant Allison. None of the answers make me feel any better.

          First: More often than not, the results of this genetic test do not come back positive. Positive in the sense that a mutation is identified in the sample and it exactly matches a known mutation in the database. Currently the database holds records on about 250 known mutations. In many samples, mutations are often found that are not yet catalogued – these are considered novel mutations and don’t confirm or deny anything. I was actually expecting this scenario.

          Mine came back positive. A mutation in the troponin t protein and it exactly matches 30 other documented cases. If one considers variations on that specific mutation, the numbers are much greater. The 30 with the identical mutation belong to 3 different family groups. At least one case of sudden death has been recorded in each family, with one family suffering multiple cases of sudden death. It was interesting to learn than only mild hypertrophy was noted in all members of this group. My case has been very difficult to nail down because of “mild” hypertrophy – evidence has not been overwhelming in my echoes.

          Second: HCM Mutations that are acquired, and until proven otherwise, we have to assume that mine is acquired - always occur early on in the embryonic stage. This is known because HCM mutations can be found in every cell of the body. A blood test or mucus swab can be used for genetic testing of HCM for this reason. Cancer is different. Even though all cancer is genetic in origin only a small portion is inherited. Mutations that occur during ones lifetime can develop into disease in the case of cancer, not so with HCM. I never knew that.

          Now I have a lot to consider – more facts in front of me than I was hoping for.

          Once again I have to thank Lisa and the community here for pointing me in the right direction.
          • 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


          • #6
            Boz

            Well i know it was more then you actually probably wanted to know but you know now, I 'm thinking of asking my doctor to do genetic testing on my son and i but i'm a rare bird too, i know there is sudden death in my family they don't have to tell me that so that will not be no surprize to me, you take care

            Shirley
            Diagnosed 2003
            Myectomy 2-23-2004
            Husband: Ken
            Son: John diagnosed 2004
            Daughter: Janet (free of HCM)

            Grandchildren: Drew 15,Aaron 13,Karen 9,Connor 9

            Comment


            • #7
              Good news/bad news, indeed, but fascinating. Can the mutated gene be passed on to children?

              --on re-reading your post, I assume that it can be passed-on since their were 30 case in only 3 families. Any chance you inherited this mutated gene?

              While at Mayo last December I also gave a sample for genetic testing. I don't really expect to hear anything so dramatic since my case definitely appears to be inherited.

              Regards,
              Rob Thomas

              revised by me!
              --Living life on the edge .. of a continent!
              Charter member: Tinman Club

              Comment


              • #8
                It's really interesting that you have an identical match to 30 others with HCM. Wow, the odds are so enormous! You have a lot to consider now.

                No-Crash, yes to your question about passing it on to children. The nature of any true HCM is that it's a dominant trait and any child born of a person with HCM has a 50/50 chance of getting the gene, therefore has a 50/50 chance of developing HCM.

                Reenie
                Reenie

                ****************
                Husband has HCM.
                3 kids - ages 23, 21, & 19. All presently clear of HCM.

                Comment

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