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Syndrome-related HCM

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giovy_65 Find out more about giovy_65
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  • Syndrome-related HCM

    Hello,

    my son has HCM as a result of the Leopard syndrome, which is caused by the PTPN11 gene, just like the Noonan syndrome. For those who have never heard about it, Leopard is not a noun but an acronym which indicates the different pathologies one may develop: for instance, the final "d" stands for deafness, while the initial "L" indicates lentigines, which are the typical feature of the syndrome.
    One is hit only by some of the possible diseases, not all of them can develop in a single person.
    My question is: has any of you ever heard about other people hit by the Leopard syndrome ?
    I ignore how rare this syndrome is, but I think it would be scientifically relevant to discover if a trend is showing for HCM development inside this group of Leopard patients.
    Thank you

    Giovanni

  • #2
    Yes, I am aware of the condition. I have seen HCM in this condition treated the same as "standard" HCM.

    How old is your son?

    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


    • #3
      Leopard syndrome

      My son is almost 3 years old. He's currently taking propranolol on a 6 mgs/kg basis but the average gradient still keeps around 40 mm Hg. Furthermore, I suspect that side effects are showing since he's struggling to recover from his slight mental retardation due to deafness. This is why I'm starting to consider the surgical options, so I need to know everything related to a possible myectomy, from the costs (coming to Rochester or Cleveland and have my son operated won't be cheap, also considering the fact that you are under very different medical system) to the long-term prognosis. I would also like to meet other Leopard patients if you know about any.
      Thanks

      Giovanni

      Comment


      • #4
        Hi again,
        I just did a little more reading on LEOPARD Syndrome. It appears that his prognosis is related to cardiac condition thus his long term prognosis should mirror that of others with HCM. In short this should be rather good news. You have the oppurtunity to evaluate his risks and should you find he is at high risk take action with medications and/or device implantation. Have you reached out to Paulo Spirito in Italy yet?

        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


        • #5
          Dr. Spirito

          No, actually I first learned about him from the list of contributors to the previously mentioned Clinical Expert Consensus Document on HCM.
          Is he a surgeon or an HCM specialised cardiologist ?
          Thank you

          Giovanni

          Comment


          • #6
            He is an HCM specialist. He can refer you to a surgeon if needed.

            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

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