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Genetic update - -new article 12/10/02


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  • Genetic update - -new article 12/10/02

    [Genetic update - -new article 12/10/02]

    Author: Lisa Salberg (---.dyn.optonline.net)

    Date: 12-12-02 07:28

    In the December 10th issue of circulation a journal of the American Heart Association there is an interesting paper on the prevalence and severity of certain mutations in hypertrophic cardiomyopathy. I am specifically mentioning this article to demonstrate what are true current understandings of genetics in hypertrophic cardiomyopathy.The genes that were analyzed for this paper include

    beta-myosin heavy chain, cardiac, cardiac troponin T and Tropomyosin

    The paper comes from the Mayo Clinic's hypertrophic cardiomyopathy clinic in conjunction with several other departments. The following is a quote directly from the article.

    The mutations specific prognostication:

    in the present study, genotype -- guided prognostication would have been misleading. In fact, three of five individuals with benign occasions have family members who succumbed to sudden cardiac death, and to individuals have a family history of sudden cardiac death before age 20 years. Moreover, the five patients down to possess one of these benign mutations have not experienced a favorable clinical course. Rather, all five patients have required a surgical myectomy, including one adolescent female or received a heart transplant at 16 years of age for end-stage heart failure. Holistically, these observations weaken the premise that clinical severity and risk for sudden death can be associated with any certain mutations. We do not yet have a sufficient understanding of the complex disease entity or entities comprising the diagnosis of hypertrophic cardiomyopathy necessary to determine which mutations, a combinations of mutations or combinations of mutations and environmental factors portend either an ominous were favorable clinical outcome.

    end quote

    The value of this information spans beyond those who have already been genetically screened and identified with the above mentioned mutations. This demonstrates the true variable sense of this disease. No one should take for granted that someone with "mild" symptoms from HCM as an indication that the genes is somehow not as dangerous as somebody with severe symptoms associated with their HCM.

    There was one other reason I wanted to mention this article specifically. It may sound simplistic but I thought that had great meaning. Within the acknowledgments at the end of this paper it states "we are indebted to the patients seen in hypertrophic cardiomyopathy clinic at the Mayo Clinic, Rochester for their willingness to participate in this study..."

    To all of those who participated in this study I to wish to thank you. Your contributions are working toward making life better for all of us. A further wish to thank the entire staff of the Mayo Clinic's HCM clinic for their continued efforts on behalf of of all of us living with HCM.

    And a special note to all of our special friends in the research community we thank you all for your hard work on our behalf.

    Lisa Salberg


    [Re: Genetic update - -new article 12/10/02]

    Author: Sarah B. Board Moderator (12.144.99.---)

    Date: 12-12-02 10:28


    I just want to clarify something ----this article does NOT say that genetic tests are inaccurate. It is saying that the genetic mutation you have is not an indication of your prognosis.

    It used to be that certain genetic mutations were "worse" than others and this article says that the type you have is no guarantee of anything. But they are ALL HCM mutations.



    [Re: Genetic update - -new article 12/10/02]

    Author: cynthia (---.cap.east.verizon.net)

    Date: 12-16-02 04:54

    Does the study indicate how the mutated gene affects future generations?

    Are five participants enough for vaid data?

    Does the study indicate any advice for those with HCM for daily living?




    [Re: Genetic update - -new article 12/10/02]

    Author: Sarah B. Board Moderator (12.144.99.---)

    Date: 12-16-02 09:14

    Dear Cynthia,

    The study didn't have 5 subjects, it was just using those 5 as examples of how the genes don't play by any rules. Lisa --could you tell us the hard numbers on this one?

    It is my understanding that all of the genes so far (or almost all of them) are autosomal dominant, which means that each child of someone with HCM has a 50% chance of having HCM, too.

    Studies like this do not usually give advice like you are asking about. Please read Lisa and Dr. Maron's "Patient's Guide to HCM" for answers to most HCM questions.

    take care,

    NOTE: This is a post from the previous forum message board.