Loading ...
Sorry, an error occurred while loading the content.

Re: [FH] dumb dumber and yet maybe something is there?

Expand Messages
  • Lisa Clarizia
    Hi Andrea, reading-panic-panic-read more ... At the moment, there s little that can be done for cats with obstructive HCM (or other cardiomyopathies) beyond
    Message 1 of 6 , Nov 5, 2005
    • 0 Attachment
      Hi Andrea,

      reading-panic-panic-read more
      > confused about: obstuctive hcm--regurgitation of flow-cna this be seen by
      > the size of the LA
      > if the obstruction is causing............ok-lost that..
      > reading a bit from the cardiomyopathy assoc--human research...but
      > still.....what is done for
      > obstructive hcm-if meds eventually dont work-seems differnt routes can be
      > taken-this is why
      > i got confused about the pace maker or dual chamer pace
      > maker--something....but-it has
      > been mentioned for obstructive hcm -if meds dont work?


      At the moment, there's little that can be done for cats with obstructive HCM
      (or other cardiomyopathies) beyond meds (and of course, supplements). You
      can put a pacemaker in a cat BUT it's not common (it's basically
      experimental, dogs get them more frequently, but I don't think it's widely
      done in cats at all), is not something your average vet can do, it's
      horrendously expensive and in the end, probably won't do much good.
      Pacemakers correct arrhythmias, which is helpful when the primary problem is
      arrhythmia. However, in our case, arrhythmias arise from the
      thickening/thinning of the heart walls and where the disease invariably has
      a genetic component (see below), a pacemaker isn't likely to do anything to
      stop or slow the disease progression.

      It may well prevent sudden death due to arrhythmia, at least when the
      disease is mild to moderate, but in severe disease, probably not. A
      pacemaker will only "turn on," as it were, when it detects an abnormal
      rhythmn as opposed to meds like atentolol, which regulate the heartbeat
      consistently and may slow/stop disease progression by virtue of forcing the
      heart to act 'normally.' Another problem is this -- implanting a pacemaker
      is surgical, and our kitties are usually very bad surgical risks.


      i am trying to draw an image by using the info given from the echo
      > results-to get a better
      > "view" of elsas heart-and size of things-and flow etc-
      > my dumbest question is-how many studies have been done on gengetics
      > (feline) or-have
      > they profiled the "bad" (?) genes and can this possibly help?? to know the
      > genes involved-if
      > involved at all-i mean-in families-often one member w the same hcm
      > diagnosis and another
      > in family-they reponded totally differently tho-so-it has a lot to do with
      > many things-not just
      > these things...(huh?)
      > ok-if i am making people think i shouldnt write posts---let me know--i
      > probably only throw
      > out dumb stuff and create messes----but i really am truly wanting to help
      > my love--my
      > elsa-which is why i am going nutty in the first place---ok--i will limit
      > my posts as of now-


      Ask any questions at all ... like Sue said, we may learn something!

      The disease is most likely genetic in 99% of cases (ocassionally, it may be
      caused by a viral infection in the case of DCM). This can either be an
      inherited gene or arise from a random mutation in one individual.

      The gene or genes (there's probably more than one) which cause it exhibit
      what's called 'incomplete penetrance.' What this means is you can have two
      individuals with the same genes that cause it (genotype) but they may have
      completely different clinical signs (phenotype) -- in other words, the same
      genes may cause one individual to be really, really sick and the other not
      so bad. There are many reasons why -- environmental factors, how many of the
      cardiomyopathy genes are expressed (why I think it's more than one), other
      genes in the body -- it's hard to pinpoint it.

      IMO -- unless you're a breeder, I don't think it matters much to the typical
      pet guardian whether or not it's genetic -- the treatment is still the same
      and right now, even knowing whether or not the cat has the gene(s) isn't
      helpful in terms of knowing what kind of course or outcome to expect because
      of the incomplete penetrance thing.

      Lisa


      [Non-text portions of this message have been removed]
    • Susan
      The other thing that is different between cats and humans regarding HCM, is that humans are much more likely to experience sudden death. For cats,
      Message 2 of 6 , Nov 6, 2005
      • 0 Attachment
        The other thing that is different between cats and
        humans regarding HCM, is that humans are much more
        likely to experience sudden death. For cats,
        thromboembolism and CHF are much more likely ultimate
        causes of mortality. Perhaps it is because cats don't
        play basketball or run marathons :)

        The bottom line is that if the cat is asymptomatic at
        the time of diagnosis and does not need a diuretic
        (lasix) it's probably not necessary to panic since
        there is no way to know if or when the disease may
        progress to refractory CHF.

        Susan

        --- Lisa Clarizia <lclarizia@...> wrote:

        > Hi Andrea,
        >
        > reading-panic-panic-read more
        > > confused about: obstuctive hcm--regurgitation of
        > flow-cna this be seen by
        > > the size of the LA
        > > if the obstruction is causing............ok-lost
        > that..
        > > reading a bit from the cardiomyopathy assoc--human
        > research...but
        > > still.....what is done for
        > > obstructive hcm-if meds eventually dont work-seems
        > differnt routes can be
        > > taken-this is why
        > > i got confused about the pace maker or dual chamer
        > pace
        > > maker--something....but-it has
        > > been mentioned for obstructive hcm -if meds dont
        > work?
        >
        >
        > At the moment, there's little that can be done for
        > cats with obstructive HCM
        > (or other cardiomyopathies) beyond meds (and of
        > course, supplements). You
        > can put a pacemaker in a cat BUT it's not common
        > (it's basically
        > experimental, dogs get them more frequently, but I
        > don't think it's widely
        > done in cats at all), is not something your average
        > vet can do, it's
        > horrendously expensive and in the end, probably
        > won't do much good.
        > Pacemakers correct arrhythmias, which is helpful
        > when the primary problem is
        > arrhythmia. However, in our case, arrhythmias arise
        > from the
        > thickening/thinning of the heart walls and where the
        > disease invariably has
        > a genetic component (see below), a pacemaker isn't
        > likely to do anything to
        > stop or slow the disease progression.
        >
        > It may well prevent sudden death due to arrhythmia,
        > at least when the
        > disease is mild to moderate, but in severe disease,
        > probably not. A
        > pacemaker will only "turn on," as it were, when it
        > detects an abnormal
        > rhythmn as opposed to meds like atentolol, which
        > regulate the heartbeat
        > consistently and may slow/stop disease progression
        > by virtue of forcing the
        > heart to act 'normally.' Another problem is this --
        > implanting a pacemaker
        > is surgical, and our kitties are usually very bad
        > surgical risks.
        >
        >
        > i am trying to draw an image by using the info given
        > from the echo
        > > results-to get a better
        > > "view" of elsas heart-and size of things-and flow
        > etc-
        > > my dumbest question is-how many studies have been
        > done on gengetics
        > > (feline) or-have
        > > they profiled the "bad" (?) genes and can this
        > possibly help?? to know the
        > > genes involved-if
        > > involved at all-i mean-in families-often one
        > member w the same hcm
        > > diagnosis and another
        > > in family-they reponded totally differently
        > tho-so-it has a lot to do with
        > > many things-not just
        > > these things...(huh?)
        > > ok-if i am making people think i shouldnt write
        > posts---let me know--i
        > > probably only throw
        > > out dumb stuff and create messes----but i really
        > am truly wanting to help
        > > my love--my
        > > elsa-which is why i am going nutty in the first
        > place---ok--i will limit
        > > my posts as of now-
        >
        >
        > Ask any questions at all ... like Sue said, we may
        > learn something!
        >
        > The disease is most likely genetic in 99% of cases
        > (ocassionally, it may be
        > caused by a viral infection in the case of DCM).
        > This can either be an
        > inherited gene or arise from a random mutation in
        > one individual.
        >
        > The gene or genes (there's probably more than one)
        > which cause it exhibit
        > what's called 'incomplete penetrance.' What this
        > means is you can have two
        > individuals with the same genes that cause it
        > (genotype) but they may have
        > completely different clinical signs (phenotype) --
        > in other words, the same
        > genes may cause one individual to be really, really
        > sick and the other not
        > so bad. There are many reasons why -- environmental
        > factors, how many of the
        > cardiomyopathy genes are expressed (why I think it's
        > more than one), other
        > genes in the body -- it's hard to pinpoint it.
        >
        > IMO -- unless you're a breeder, I don't think it
        > matters much to the typical
        > pet guardian whether or not it's genetic -- the
        > treatment is still the same
        > and right now, even knowing whether or not the cat
        > has the gene(s) isn't
        > helpful in terms of knowing what kind of course or
        > outcome to expect because
        > of the incomplete penetrance thing.
        >
        > Lisa




        __________________________________
        Yahoo! FareChase: Search multiple travel sites in one click.
        http://farechase.yahoo.com
      • goldengirlgene
        Hi, Incompete penetrance or decreased penetrance is one of the special characteristics (exceptions to the rules ) of autosomal dominant traits/diseases.
        Message 3 of 6 , Nov 8, 2005
        • 0 Attachment
          Hi,
          "Incompete penetrance"or "decreased penetrance" is one of the special
          characteristics (exceptions to the 'rules') of autosomal dominant
          traits/diseases. It's an all-or-none phenomenon and refers to
          clinical expression (or lack of) of a mutation.

          So, it can appear that an affected offspring has a normal parent In
          a sense, it's a reflection of ability to detect expression of the
          disease (e.g., by echo in HCM) and may be age-related. And, because
          HCM has a delayed onset where hypertrophy might not be evident until
          later, with HCM it's often called age-dependent penetrance.

          BTW, penetrance is not the same as "variable expression", another
          common characteristic of autosomal dominant diseases, which is what
          you've described below.
          Marcia

          --- In feline-heart@yahoogroups.com, Lisa Clarizia <lclarizia@g...>
          wrote:
          > The gene or genes (there's probably more than one) which cause it
          exhibit
          > what's called 'incomplete penetrance.' What this means is you can
          have two
          > individuals with the same genes that cause it (genotype) but they
          may have
          > completely different clinical signs (phenotype) -- in other words,
          the same
          > genes may cause one individual to be really, really sick and the
          other not
          > so bad. There are many reasons why -- environmental factors, how
          many of the
          > cardiomyopathy genes are expressed (why I think it's more than
          one), other
          > genes in the body -- it's hard to pinpoint it.
          >
        • Lisa Clarizia
          Thanks Marcia! Lisa ... [Non-text portions of this message have been removed]
          Message 4 of 6 , Nov 8, 2005
          • 0 Attachment
            Thanks Marcia!

            Lisa

            On 11/8/05, goldengirlgene <Marciam@...> wrote:
            >
            > Hi,
            > "Incompete penetrance"or "decreased penetrance" is one of the special
            > characteristics (exceptions to the 'rules') of autosomal dominant
            > traits/diseases. It's an all-or-none phenomenon and refers to
            > clinical expression (or lack of) of a mutation.
            >
            > So, it can appear that an affected offspring has a normal parent In
            > a sense, it's a reflection of ability to detect expression of the
            > disease (e.g., by echo in HCM) and may be age-related. And, because
            > HCM has a delayed onset where hypertrophy might not be evident until
            > later, with HCM it's often called age-dependent penetrance.
            >
            > BTW, penetrance is not the same as "variable expression", another
            > common characteristic of autosomal dominant diseases, which is what
            > you've described below.
            > Marcia
            >


            [Non-text portions of this message have been removed]
          • Susan
            What does Kittelson mean by when the stillborn fetuses were considered lethal homozygotes. Only a few examples of human homozygous individuals who have lived
            Message 5 of 6 , Nov 8, 2005
            • 0 Attachment
              What does Kittelson mean by "when the stillborn
              fetuses were considered lethal homozygotes. Only a few
              examples of human homozygous individuals who have
              lived exist in the literature"

              In the pedigree analysis, the pattern of inheritance
              was consistent with an autosomal dominant trait when
              the stillborn fetuses were considered lethal
              homozygotes. Only a few examples of human homozygous
              individuals who have lived exist in the literature.

              snip

              The expressivity of the disease in our colony was
              influenced by the type of breeding. When affected cats
              were bred to affected cats, their offspring developed
              HCM at an earlier age, always developed severe
              disease, and developed severe disease at an earlier
              age. One explanation is that these individuals were
              the homozygotes instead of the stillborn fetuses. If
              this were true, all of the affected cats in group 2
              were homozygotes. This is statistically improbable.
              Another possible explanation is that modifying factors
              were altered by breeding affected to affected cats.

              snip

              Individuals with the DD genotype have severe
              hypertrophy, whereas individuals with the ID or II
              genotype have mild or no hypertrophy. It is possible
              that in our cats, this or another polymorphism was
              encountered in these 2 breedings by chance or that a
              polymorphism or other modifying factors are
              coinherited with the mutation responsible for HCM in
              these cats.



              --- Lisa Clarizia <lclarizia@...> wrote:

              > Thanks Marcia!
              >
              > Lisa
              >
              > On 11/8/05, goldengirlgene <Marciam@...> wrote:
              > >
              > > Hi,
              > > "Incompete penetrance"or "decreased penetrance" is
              > one of the special
              > > characteristics (exceptions to the 'rules') of
              > autosomal dominant
              > > traits/diseases. It's an all-or-none phenomenon
              > and refers to
              > > clinical expression (or lack of) of a mutation.
              > >
              > > So, it can appear that an affected offspring has a
              > normal parent In
              > > a sense, it's a reflection of ability to detect
              > expression of the
              > > disease (e.g., by echo in HCM) and may be
              > age-related. And, because
              > > HCM has a delayed onset where hypertrophy might
              > not be evident until
              > > later, with HCM it's often called age-dependent
              > penetrance.
              > >
              > > BTW, penetrance is not the same as "variable
              > expression", another
              > > common characteristic of autosomal dominant
              > diseases, which is what
              > > you've described below.
              > > Marcia
              > >
              >
              >
              > [Non-text portions of this message have been
              > removed]
              >
              >
              >
              > ------------------------ Yahoo! Groups Sponsor
              > --------------------~-->
              > Learn about the benefits of variety in your dog's
              > diet...
              >
              http://us.click.yahoo.com/jQ0b9D/sPuKAA/l5aWAA/Zh0wlB/TM
              >
              --------------------------------------------------------------------~->
              >
              >
              > Your reply will go to the author of this message. If
              > you feel your reply will benefit the entire group,
              > please change the "To:" line to
              > feline-heart@yahoogroups.com
              > Yahoo! Groups Links
              >
              >
              > feline-heart-unsubscribe@yahoogroups.com
              >
              >
              >
              >
              >




              __________________________________
              Yahoo! FareChase: Search multiple travel sites in one click.
              http://farechase.yahoo.com
            Your message has been successfully submitted and would be delivered to recipients shortly.