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Genetic Test for HCM


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Boz Find out more about Boz
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  • Genetic Test for HCM

    The web site for The Laboratory for Molecular Medicine in Cambridge, MA certainly does a better job of explaining the test than I will. But I will add my own comments.
    • My understanding of the test is that it is 100% accurate. This means that when a mutated gene is found in a patients blood sample which matches one of the genes known to cause HCM (currently in excess of 200 different genes are known) that patient can be considered a carrier. If this patient is also suffering symptoms that resemble Hypertrophic Cardiomyopathy then a diagnosis of that disease can be confirmed.
    • There is one especially long strand of DNA, known to be involved with heart functions, which is not sequenced in this test. To do so would easily double the complexity, turn around time and cost. It is certainly possible that HCM mutations could be found in this strand and for this reason the test acknowledges less than a 100% sensitivity rate.
    • To date, the focus is on genes known to cause the disease, and better yet the genes that are known to be associated with sudden death.

      So, a yes finding is definitely YES and a no finding is more like maybe

    I am looking at having an ICD implant that I want to be very sure I need. An ICD is an insurance policy, but it is not a “free ride” and not with out its own risks. I am concerned that it will impact my ability to earn a living in my profession – I need to represent myself as a healthy individual capable of completing physical tasks.

    If I was to have the genetic test and if I was confirmed to have a gene which is associated with sudden death, I will have the implant the very next day.
    • 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
    Re: Genetic Test for HCM

    Boz , I sent you a PM before I read this . This answers some of the questions I asked you.

    Thanks for the info.

    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


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