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Can my son have the gene without having HCM?


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  • Can my son have the gene without having HCM?

    I have mild HCM as does my brother. My 43 year old son is in the process of being checked to see if he has it. He has no symptoms, his ECG is normal but he he's having an echo done in a couple of weeks. His son is 16 and a basketball player. If my son is told he doesn't have HCM, does my grandson also have to be checked? In other words, if my son does not have HCM, could he still have the gene that can be passed on to his children? Thanks.
    Diagnosed August 2009...with obstruction but 'mild'.

  • #2
    Having a genetic mutation associated with HCM, does not always cause structural changes in the heart or symptoms of HCM to manifest. This is called Genotype Positive/ Phenotype negative. Do you have a gene identified for you and your brother that they will be looking for in your son?
    Even if your son has no symptoms, if he has a genetic mutation for HCM then his son should be tested and followed with echo cardiogram.....the same with your son.

    So far there are still around 50% of patients who have HCM that do not have a genetic test positive for HCM mutations. There is still a lot to be learned and probably more mutations to be discovered.
    After years of symptoms:
    Officially Diagnosed HOCM 2006
    Myectomy 3/11/13 at non-COE
    Extended Myectomy 7/23/14
    At Mayo with Dr. Joseph Dearani


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