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Fw: [FAN-H] First case of cardio in 20 years of breeding...

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  • Westgold
    Hi -- we are discussing testing for HCM in breeding cats on the fanciershealth list -- I wanted to pass this informative post along to anyone who is interested
    Message 1 of 4 , Oct 3, 2009
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      Hi -- we are discussing testing for HCM in breeding cats on the fanciershealth list -- I wanted to pass this informative post along to anyone who is interested --
      ----- Original Message -----
      From: Isabelle Bellavance
      To: Fanciershealth List
      Sent: Saturday, October 03, 2009 3:15 PM
      Subject: Re: [FAN-H] First case of cardio in 20 years of breeding...


      Stephanie,

      We need to be careful when claiming that there is 'NO HCM' even if the cats were tested for the Ragdoll mutation... In humans, there are many many different mutations... In Ragdolls, the mutation refered to as the Ragdoll mutation is found in about 23 - 25% of Ragdolls that have been tested so far. There have been a few cases of genetic HCM were the cat tested negative for this mutation but positive for the Main Coon mutation. The later mutation tends to be in much lower numbers but it's still there. There may still be other, yet unknown mutations in our breed, just as there obviously is in other breeds as there are a large number of breeds that have HCM as well as domestic cats (the main source of genetic diversity in the Ragdoll breed), and at this time, all these other breeds have not been able to blame the same mutation as the Ragdoll or Main Coon...

      Before anyone goes off screaming missinformation... the ratio of positive cats does not mean that one in 4 Ragdolls have been dying of HCM. In fact, they haven't and that is what had been so frustrating... as prior to the genetic test, breeders could only do ultrasounds on their breeders in order to identify and eliminate from the genepool the culprits. It was very frustrating to find that both parents would more often than not have normal ultrasounds and sometimes for the major part of their life as was found by the handful of breeders who did the repetitive tests year after year. It seems that the homozygous cats, are more severly affected and are the ones that tend to have an early onset of the desease. The heterozygous cats, in most cases, are not affected at all or start showing signs upon ultrasound (note that this does NOT mean clinical signs) until much much later. We were carefully councelled at the beginning of the testing, NOT to
      eliminate all the heteropositive cats in order not to reduce our genepool in a significant way. Instead, the advice was to breed to a negative and keep a negative from the next generation to persue the line. The worry was that by culling a quarter of our genepool, we may be loosing some of the good genes, but also increase the incidence of other, yet undiscovered mutations causing HCM. I had heard of a couple of cases of HCM that did not test positive for either of the two known mutations and this is why we continue to support HCM research funding as it continues for other breeds so that these too can be discovered and eventually removed from our genepool.

      That being said, you are correct that the first step is definatly to test breeders and in addition to standing behind our cats, reassure the buyer that we do everything in our power to ensure that we produce happy healthy kittens. We offer guarantees because life is such that living animals may have 'things' happen that are beyond our power or for which there has not yet been a test developped. Having pet buyers report back to us is sometimes the only way we ever find out that something is wrong...

      Isabelle, also from Montreal ;)

      ----- Original Message ----
      From: Mother Stephania <srstephanie@...>
      To: Linda I <Catalyst8@...>; Fanciershealth List <fanciershealth@yahoogroups.com>
      Sent: Saturday, October 3, 2009 8:20:01 AM
      Subject: Re: [FAN-H] First case of cardio in 20 years of breeding...

      Hi Linda,

      I'm sorry to hear about your cat. You are actually lucky that you breed
      Ragdolls because there is a DNA test for the primary (maybe only) gene
      that causes HCM in Ragdolls. Have all of your breeding cats been DNA
      tested? If they have and are all negative, then you can show proof that,
      as far as you were able to tell there was know possible HCM in your lines.

      If they haven't been tested, then they should be ASAP. The DNA tests can
      be done at either Washington State Univ (Dr Kate Meurs who did the
      original research to identify the gene mutation that causes HCM in
      Ragdolls) ... or at UC Davis (which is the best veterinary genetics
      testing lab in the US and is a little cheaper than WSU and does other
      genetic tests as well).

      Congestive heart failure (the usual cardiac cause of fluid in the lungs)
      and throwing a blood clot (saddle thrombosis) sound like typical HCM
      symptoms ... but there are other possible heart diseases or congenital
      (non-inherited) heart problems. Was the cat scanned, i.e. via ultrasound
      ... or was the vet just assuming HCM in a Ragdoll (not a bad
      assumption)? The cat should be ultrasounded, or if it doesn't survive,
      then have a necropsy to confirm or rule out HCM, which is important info
      for you and your cattery.

      Here are links to the HCM DNA testing:

      UC Davis:
      http://www.vgl.ucdavis.edu/services/cat/

      WSU:
      http://www.vetmed.wsu.edu/deptsvcgl/felineTests.aspx

      Good luck.

      Stephanie in Montreal

      ----------------------------------------------------------

      Linda I wrote:
      > Geez, I just got off the phone with a distraught kitten buyer. She bought two kittens from us about a year and a half ago, and now one is in hospital with fluid in the lungs and a blood clot that's paralyzing the back legs. It sure sounds like cardiomyopathy to me, yet honestly, we've been small breeders of Ragdolls for 20 years and never had a case. Our stud is the grandson of our original cat, and our three queens have all been breeding for years. I can hear it in her voice already that she thinks I've been knowingly selling sick kittens, because a lot of vets automatically point to the breeder and the bloodlines. She kept asking me if there was any history of this, and truly, there isn't. What do I tell her? I do guarantee the kittens, so of course I'll refund her money or give her another kitten, but I hate the tone of accusation. Any advice? I'm ready to hang up on the breeding. We've had a wonderful run, but I can't take calls like this one.
      >
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    • Westgold
      Hi everybody -- here is another post from fanciershealth list about checking our breeding cats -- ... From: SuPurr Ragdolls To: Westgold Sent: Sunday,
      Message 2 of 4 , Oct 4, 2009
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        Hi everybody -- here is another post from fanciershealth list about checking our breeding cats --
        ----- Original Message -----
        From: SuPurr Ragdolls
        To: 'Westgold'
        Sent: Sunday, October 04, 2009 1:44 PM
        Subject: RE: [FAN-H] First case of cardio in 20 years of breeding...


        Of course. Just be sure to assure people that I am NOT against Dr. Kittleson in ANY way, just would like people to realize that meds can help in some cases. J



        Sue



        Bill & Sue Shorey

        SuPurr Ragdolls

        http://Supurr.com









        --------------------------------------------------------------------------------

        From: Westgold [mailto:westgold@...]
        Sent: Sunday, October 04, 2009 1:08 PM
        To: supurrrags
        Subject: Re: [FAN-H] First case of cardio in 20 years of breeding...



        hi -- very interesting post, may I forward it to feline-heart group? thanks

        ----- Original Message -----

        From: supurrrags

        To: fanciershealth@yahoogroups.com

        Sent: Sunday, October 04, 2009 12:12 PM

        Subject: Re: [FAN-H] First case of cardio in 20 years of breeding...






        Having had first hand experience with HCM and being one of the people that got the research started for our Ragdoll breed. I would like to address something in your email.

        For others that have cats with HCM, I respectfully disagree with Dr. Kittleson's statement on meds for these cats. I have heard this before that he does not believe in giving meds to cats with HCM. I have a heterozygous cat who does not have congestive heart failure and on meds his heart murmur went from a 4 to hardly even a 2 and the walls thinned a bit. He improved greatly. I know of other cases where this has happened. I work with a wonderful certified cardiologist who has seen that meds have prolonged the life of an HCM kitty.

        I have a homozygous HCM cat that was given 6 months to live at 8 months old who does have congestive heart failure and he is given 5 different meds (needs way more than just lasix) and he just passeD his 5 year old birthday. Although he is not doing well now, he has lived some wonderful years but it took his meds to get him through.

        Also, my last contact with Dr. Meurs (who did our research for HCM), there have not been any proved cases of there being another mutation in our breed. That may have changed but it also means that as breeders, we must continue to scan and be aware (through our pet owners) of anything that shows up.

        In case anyone wonders, all of my breeders are negatives. The only HCM kitties that I have now are all altered pets.

        I have seen the range of HCM. From one with the MC mutation, a heterozygous that is 12 years old with no signs of heart disease (is not expressing it) to a 4 year old heterozygous who scanned negative at 2 and expressed mild HCM by 4.

        It is a complicated disease that seems to do what it wants to. We must get all Ragdoll breeders to get there breeders tested as, unfortunately, this is not the case. I've even heard of veterinarians saying that the test isn't any good. :(

        I hope that other breeds will be able to find the HCM mutations in their breed also. I know that many are trying to do so. We must support all forms of HCM research.

        --- In fanciershealth@yahoogroups.com, Mother Stephania <srstephanie@...> wrote:
        >
        > Hi Isabelle,
        >
        > I should apologize for my previous post. I'm usually much more careful
        > about information when I post ... but while I live in Montreal, I'm
        > currently visiting a friend in Toronto and made the mistake of trying to
        > reply too quickly this morning (my friend took me to Niagara Falls today).
        >
        > I had the incredible experience last June of attending the annual
        > meeting of the American College of Veterinary Internal Medicine (ACVIM
        > Forum) which met in Montreal. I'm sorry you didn't have the opportunity
        > to attend as well while they were here. The last day of the ACVIM Forum,
        > Dr Mark Kittleson (I know I don't need to tell you who he is) gave a 4
        > hour "graduate course" on Feline HCM. It was great.
        >
        > At the time, Dr Kittleson was only aware of the one mutation being found
        > in Ragdolls, but it is true that I have heard that there have been a
        > small number of Ragdolls with the Maine Coon mutation ... so, it is wise
        > for Ragdoll breeders to test for both known mutations, though from what
        > I've heard, only a very small number have been found to have the MC
        > mutation. It is new to me that there have been cases of Ragdolls with
        > clinical HCM that do not have either the MC or Ragdoll mutations (and
        > other physical conditions like hyperthyroidism or hypertension have been
        > ruled out so that it is primary HCM). The last time I asked, I was told
        > all cases of HCM in Ragdolls could be accounted for by one of the known
        > mutations.
        >
        > But I think that the best that breeders can do, for now, is to test for
        > the mutations that we do know exist and breed away from them. Dr
        > Kittleson (who, as you know, has worked primarily with Maine Coons for
        > about 17 years), personally, would rather that not even heterozygotes be
        > bred. His reasoning is that ... breeders, who by definition, use
        > selective breeding to advance the breed, are only using about 10% of the
        > available cats in breeding programs and selling the others as pets. He
        > feels that rather than breeding heterozyous cats that may meet the breed
        > standard better ... that breeders should replace them with negative cats
        > that may not be perfect examples of the breed and would otherwise have
        > been sold as pets. I'm not sure from a breeder's perspective (and I'm
        > NOT a breeder) that there are not some problems in his theory ... but it
        > is worth considering.
        >
        > Having said that, Dr Kittleson will concede that there may be some
        > heterozygotes who have qualities that can't be found elsewhere that
        > breeders want to preserve ... so he would suggest ONE and ONLY ONE
        > breeding of a heterozygote to a negative cat and replace the
        > heterozygote with a negative kitten. What is important (at least to me
        > as a potential pet owner) is that breeders replace heterozygous cats
        > within one generation. There after, they can honestly make claims that
        > they do not have those two mutations in their breeding lines ... though,
        > of course, it is still possible for an unknown mutation to still exist
        > within the breed. However, I'm still under the impression (and I'd be
        > interested in hearing more info if you have it) that clinical HCM in
        > Ragdolls that don't have either of the two known mutations is very rare.
        >
        > From what I've heard, Ragdolls seem to be in a better position than
        > most breeds. Even in Dr Kittleson's Maine Coon colony, he has cats with
        > severe HCM that are negative for the MC (and RD) mutation. So they know
        > they have an unidentified mutation causing disease ... and I think it is
        > more common than unknown mutations in Ragdolls. I know RagaMuffins also
        > have the RD mutation ... though, interestingly, all so far are
        > heterozyous and none have clinical HCM ... but there are a small number
        > of RagaMuffins with HCM and none of them have either the RD or MC
        > mutations. So, like the MC, they know they have an unknown mutation that
        > can't yet be tested for that causes disease. I think that the last I
        > heard, in humans there are something like 400 or more mutations on 12 or
        > so genes that can cause HCM ... so there could be many more mutations
        > found in cats as well.
        >
        > While it is true that the homozygous cats are much more likely to have
        > severe disease with an earlier onset and heterozyous cats more likely to
        > have less severe (and frequently no clinical disease at all) with a
        > later onset (and males generally have earier onset and more severe
        > disease than females) ... the one point that Dr Kittleson made
        > repeatedly is that it is a completely unpredictable disease. Some have
        > mild disease that never progresses ... and others in the same litter can
        > have an earlier onset of disease that progresses rapidly. He even has
        > some that progress quickly to severe HCM but then stabilize for years.
        > He hasn't found anything that consistently alters the course of disease
        > (other than lasix after the onset of congestive heart failure). I could
        > sense his frustration after so many years of research that very few
        > answers have been found. All we can do at this point is to try to breed
        > away from known mutations, scan all breeding cats regularly and continue
        > the research.
        >
        > I agree that the 25% figure of HCM mutation in Ragdolls is misleading
        > ... not just because many do not show clinical signs of disease ... but
        > because the cats selected for DNA testing are not arbitrary and
        > representative of the entire breed. Only cats used in breeding programs
        > are, for the most part, tested and breeders will generally first test
        > cats that they have more suspicions about (e.g. related to cats that had
        > heart disease, etc). Once cats have tested negative, then it is unlikely
        > that any of their offspring will be DNA tested (at least for those
        > mutations) since both parents were tested negative. So, those many
        > negative offspring will not be included in the percentages of tested
        > cats (of whom 25% have been found to be positive). I hope that makes
        > sense. I think (again as a non-breeder) that there needs to be a balance
        > between not panicking over the mutations on the one hand, and taking
        > them seriously and breeding away from them as quickly as possible on the
        > other.
        >
        > While there isn't anything we can do about unknown mutations ... other
        > than having breeding cats scanned (i.e. via echocardiogram by a
        > cardiologist) regularly during and after their breeding years, I think
        > (from my perspective as a pet owner) that at this point, ethical
        > breeding means DNA testing for the mutations that we do have tests for
        > and eliminating them as soon as possible. Dr Kittleson feels that it is
        > unethical to sell heterozygous kittens, and breeders should be prepared
        > to keep heterozygous kittens that they produce ... but if they are
        > offered for sale, he believes that the potential owner should be fully
        > informed of the test results and what that means in terms of potential
        > of developing HCM. I hope no breeder will ever feel it is okay to sell a
        > heterozygous kitten because they "may" not ever develop HCM. I hope that
        > all breeders will use the DNA tests to eliminate ASAP the known causes
        > of HCM ... and keep scanning all cats to identify cats that may have
        > unknown mutations causing HCM. That is all any pet owner could ever ask
        > of a breeder and the best that can be done for now to produce healthy
        > kittens ... in any breed.
        >
        > I also believe that pet owners need to be better educated so that they
        > will understand the importance of informing breeders of any serious
        > health issue with their cats. If I were a breeder ... I think it would
        > be good to have in the contract a requirement that any cats that die
        > unexpectedly, particularly at a young age, be given a necropsy ...
        > especially looking for HCM ... with the results given to the breeder.
        > Pet owners have an important role in helping the health of breeds.
        >
        > Sorry to get on a soap box. I'm hoping to get a new kitten soon and
        > these issues have become personal as well as important to me. I am very
        > appreciative of all the good and conscientious breeders that do all they
        > can to produce healthy kittens.
        >
        > Again, my apologies for the quick reply this morning that gave
        > misleading information and left out important points. Thank you for
        > correcting them.
        >
        > Stephanie in Montreal (currently visiting Toronto)
        >
        > PS: Let me know if you would like a copy of the Proceedings for Dr
        > Kittleson's four 1 hour talks at last Junes ACVIM forum.
        >
        > ----------------------------------------------------------




        [Non-text portions of this message have been removed]
      • Westgold
        another post forwarded with permission from fanciershealth ... From: Wimpole Street Ragdolls To: fanciershealth@yahoogroups.com ; Catalyst8@aol.com Sent:
        Message 3 of 4 , Oct 4, 2009
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          another post forwarded with permission from fanciershealth
          ----- Original Message -----
          From: Wimpole Street Ragdolls
          To: fanciershealth@yahoogroups.com ; Catalyst8@...
          Sent: Sunday, October 04, 2009 9:34 AM
          Subject: [FAN-H] First case of cardio in 20 years of breeding...


          Linda,

          It is very important that the kitten is DNA tested for the two known
          HCM mutations, to get a scan (or sadly a necropsy) done to discover if
          this is HCM and to DNA test the parents.

          This is likely one of the two known mutations based on the period of
          time during which no other mutation has been found in Ragdolls.
          However, it is extremely important that Ragdolls with HCM unexplained
          by the two mutations be studied by Dr. Meurs and are brought to the
          attention of other Ragdoll breeders. You will need to have this cat
          tested to find out if he has HCM AND if the HCM does not originate
          from the two known mutations.

          (ALL breeding Ragdolls should be DNA tested before they are bred
          without regard to previously discovered HCM cases among relatives.
          There are many long lived Ragdolls with the mutation and without HCM.
          That there are no recognized cases DOES NOT mean the mutations are not
          present in your cats. Only DNA testing will tell you. Cases like
          yours, and I believe you will find it is a known mutation if it is
          HCM, are to be expected if all breeding cats are not tested. If your
          breeding cats already have been tested, then it is important to have
          Dr. Meurs do a workup of the case to see if they are eligible for her
          research or if this is not HCM.)

          Best,
          Jan

          Jan Henson
          Wimpole Street Ragdolls





          [Non-text portions of this message have been removed]
        • Westgold
          more from our fanciershealth discussion -- ... From: Isabelle Bellavance To: fanciershealth@yahoogroups.com Sent: Sunday, October 04, 2009 5:58 PM Subject: Re:
          Message 4 of 4 , Oct 5, 2009
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            more from our fanciershealth discussion --
            ----- Original Message -----
            From: Isabelle Bellavance
            To: fanciershealth@yahoogroups.com
            Sent: Sunday, October 04, 2009 5:58 PM
            Subject: Re: [FAN-H] First case of cardio in 20 years of breeding...


            Hello Stephanie,

            Sorry I took a while to respond even though I did see your post earlier this morning. I'm at work and since your reply contained quite a few elements I wanted to respond to, I wanted to take the time to mull over the different issues.

            First off, I appreciate the fact that you explained your point of view and specified it was from that of a potential pet buyer. I'm not sure in what field of work you are in, but it appears to be related to veterinary medicine and this can provide a different insight altogether. Mine is from a breeder of Ragdolls of 17 years and also from that of a wildlife Biologist who works in conservation programs for endangered wildlife. It took some time and practice for me to understand that managing breeding programs for captive wildlife had a whole different set of selection criteria than that of breeding top show cats. Over time though, I have to say that I have been able to appreciate many of the insight provided by studies in population management and managing genetic diversity and have integrated some of these principles in my breeding program.

            I must say that no, I did not attend the ACVIM Forum last June. I had no idea it was taking place and don't know if it was open to all anyways, but would like to take you up on your offer to send along any of the procedings. Please e-mail privatly if you have them in digital format or I can also send you my mailing address if they are in paper format. Regardless, I have attended a number of conferences on the topic, several given by Dr Kittleson himself as well as many of the leading authorities such as Dr Kate Meurs etc. These were given at breed congresses in Las Vegas or at conferences dedicated to veterinarians and breeders as well at both Cornell and Tufts University. The Tufts conference in particular is interesting because it is organized by Dr Bell who is a veterinarian practitioner but also a population biologist and I beleive also a dog breeder. I've attended two of these conferences one of which was as recent as last month. Both
            times, it was stressed how important it was to test all breeding stock, but also to use the information it provides and use it smartly and not to rush off and spay and neuter everything.

            Genetic bottlenecking is probably one of the most important issues that brings about widespread genetic deseases because it concentrates the genepool in a population, increasing the % of other potentially deleterious genes that otherwise were present at lesser frequency. Eliminating radically all subjects that test positive can and will cause a great genetic bottleneck. Although I can appreciate your argument that only 10% of animals at each generation level are kept back for breeding, you have to note that at the time the test is done, since this is still a relatively new test and many breeders are still at the stage of testing their whole breeding stock at large, pet kittens from that generation have already been neutered and placed as pets, so selecting a littermate, even if of lesser quality, is not an option. So essentially, eliminating all of the breeding stock that tests positive in one swift move will in fact reduce the genepool by 25%.

            Your theory about it not being a representative sample of the total population has been argued and it unfortunatly does not hold. Perhaps the first few months, there could have been a scew because those most worried about their breeding cats that had histories of HCM tested them first, but eventually, whole catteries were tested in order to produce the desired certification that all their cats were clear. Although only breeding cats, there is no reason to think that breeding cats would have this mutation at a higher rate than the rest of their littermates placed in pet homes. This is true unless the trait is closely linked to another trait that is considered desirable to a breeder (the Burmese head defect comes to mind where the defective gene is beleived to be linked to a rounder more extreme head type). This DNA test has been available for about 2 1/2 years now and the results have been pretty steady.

            It is still fairly recent in all perspective and breeders are probably still in the first generation or two at the most. Breeders are advised to test for several generations. For one, we are being asked for test results on the cats parents - not the grand parents or great grand parents, and also because errors in testing or reporting can and have been reported - on more occasions than I care to report. Breeders purchasing supposedly tested cats are also advised to retest just to make sure. Pet buyers have not been advised to test thier cats but surely many have - how awful to sit with your cat, knowing that it carries a potentially lethal gene, and that it can keel over at any time... Sometimes ingorance is bliss... Breeders are not testing pet kittens unless they are testing a whole litter from a hetero positive to negative breeding and want the info to decide which kitten they will keep before they neuter the positive parent.

            I beleive the same consistent rate of positive cats was reported with the Main Coon mutation in that breed but that one is a more complexe case because of the other potential mutations present and also the lowere. Perhaps those involved with the Persians can tell us if the incidence of PKD in the population has decreased as the genetic link to that desease was discovered about 15 years ago and although not perfect, ultrasound helped considerably and the DNA test for that desease has been available for some time now... Testing pannels such as Cat Genes would be useful in reporting the incidence of desease in each of the breeds because breeders may be submitting samples for another purpose such as color or blood type status and not specifically for the specific desease and so this would avoid any potential scew in results unfortunatly, I have not found any data reports of their test results so far.

            To get back to the selection process a breeder goes thru when choosing to keep or neuter a cat, again the DNA results should be used as a tool, and used in light of the potential risk that breeding an animal with the mutation can cause. The conscientious breeder had selected this particular subject to persue the line because of a number of complexe criteria, each of which has it's importance - to the breeder, as well as the potential pet buyer. Show type according to the standard is probably one, but overall health and vigor is another, temperament, genetic background, incidence of other health issues that may or may not have a DNA test available. As an example, Ragdolls have different levels of white spotting factor that determine pattern, some breeders would just as well eliminate one of them and tend to ostracize the other; three different blood groups and many breeders would much prefer to work with the dominant A type but current DNA tests are
            not reliable to determine the carrier status for the recessive types; then of course we have 'other' health issues such as cats whose kidneys shrivle until the cat goes into renal failure (it's been refered to as 'reflux nephropathy'), other lines where there is a genetic predisposition to cats that only have one kidney and uterine horn; and I've even been told recently by a vet that any relatives to a cat that died from FIP should be neutered. These are all fatal deseases too. Other factors we need to steer clear of are cats with tail kinks, skin tags, 'split eye', back leg dewclaws and a more recent one for me - orthodontic misalignement... Then of course you get people asking for breeding cats that have large size, limp disposition, deep blue eye color, lots of coat that doesn't matt or shed, dark point color but need to carry the dilution gene and of course, they need to be from lines where the parents don't spray and they want them cheap
            too...

            I agree with you that every effort should be made to eliminate a mutation that is responsible for a serious health condition such as HCM, and ideally this should be done as quickly as possible - one generation, two at the most. Obviously, the breeder needs to be aware of the potential consequence and risk but it's all a balancing act... It's just as devestating to the breeder than the pet owner to have a cat die. Many breeders have quite breeding because they became terrified to answer the phone. We all hold our breaths when we get an update call from a pet owner and we ask how their kitty is doing. We feel the pain but are also aware of the impact a bad news report can have for other sibblings or half sibblings or sometimes unborn kittens from the repeat breeding. Although we were counciled NOT to neuter hetero positive cats, many breeders just could not deal with the stress, the chastizing, peer pressure or even simply the state laws
            such as pet lemon laws... how would one plead in a case where it can be proved that the breeder knowingly bred a positive cat... They just quite or neutered all their positive cats anyways. This already reduces the population greatly and breeds have often lost their most dedicated breeders in this way.

            It's fine and dandy to say that a breeder cannot place any of the positive cats or kittens, and should keep them all, but it's a whole different thing to do... So many cats have been euthanized because of such positions... This was reported to us by the person that helped with the initial screaning by DNA of the Main Coon mutation. It is very sad to hear, especially since with time, it became obvious that eliminating that mutation was not the end of HCM, and that most of the cats that had the mutation still lived happy normal lives...

            Knowledge is a good thing, but even science is frustratingly imperfect at times... I remember attending the first conference Dr Kittleson gave stipulating that HCM in Main Coons was dominant, and since it was in humans too, then it was likely to be in other cat breeds too. Ragdoll breeders were eliminating cats from their breeding program even if ultrasounds were normal, often neutering both parents, sibblings and whole catteries were shunned to avoid getting the 'nasty genes'. People all steered to other catteries that suddenly became 'popular' until they too had a few cases of HCM or something else. Then Kittleson found the mutation and like I mentionned above, the goal was to eliminate it. He wasn't interested in studying other mutations or even other breeds at the time. Even the Main Coon study, he himself admitted, was done because he was bullied into it by a breeder that wanted to know what it was that was killing her cats. Main Coon
            cats, their breeders and whole breeding programs paid dearly for the hast in reacting to the discovery.

            Ragdoll breeders are not 'lucky' that the mutation was found... although little credit was provided, it was the breeders that took this health concern seriously and started doing fund raising, bending over backwards and stepping on egg sells trying to interest researchers to work on our 'problem'. Although some of the funding also came from large oranizations such as Winn (also funded in great part by breeders and pet enthousiasts), the breeders were gathering in the order of 20 - 30 thousand dollars a year for several years to get this mystery resolved. We were lucky in the sense that with these efforts, the mutation was located after only the 2nd or 3rd attempt at investigating a suspect gene. At the recent conference I attended, they hope with a new SNIP test that research in addition problematic genes will be making giant strides in the very near futur. Now, researchers are uniting their efforts to get together the million or so dollars
            needed to make this tool a reality.

            Lastly, the Main Coon mutation was found in Ragdolls very early on - probably in the first few months of the DNA test being available commercially. I'm surprised Dr Kittleson did not know about it, perhaps he simply did not have time to go into it during his talk. True it appears to be rare, but because of this rare 'tag', most breeders are not testing for it either. Like I said above, we are still very early in the generations that follow 'tested' parents, and many of the cats currently being reported as having HCM come from breedings done before DNA tests were available. It will be interesting to know if in a couple of years from now the incidence of clinical cases of HCM are still being reported and only then will we know for sure if there are other mutations. Considering the amount of outcrossing to other breeds as well as to domestic cats that took place early on as well as to develop new colors, it would not surprise me that there are other
            mutations lurking. I asked and it appears that the original reports of HCM from other mutations were not confirmed properly - and there were issues with parentage so the data was disregarded.

            Getting proper diagnosis on cats in pet homes is very difficult if not impossible to do... As you may or may not know, in our breed, many of the cases are ones where the cat is fine and then next thing you know it keals over and dies. Some go into congestive heart failure or they get saddle thrombosis and people not wanting to see their animals suffer, not having the substantial financial resources necessary to test and treat, they have the cat PTS. They morne and often call the breeder weeks later to tell. Every breeder I know offers health warranty on their kittens. Most of us require a necropsy but I would say that the only ones I've ever had were ones that I actually had done. I still replace the cats because... just because... The new advice given to breeders is to actually collect DNA on all the kittens and just stash it away for such days where 'things' happen or when tests become available and you just want to 'know'.

            I had found your response to be long and complexe and I'm afraid I've matched it. Hopefully we've both covered, in addition to all the other responses provided already, all of the aspects that poor Linda needs to take into consideration when she gets her test results back and next speaks to her mourning pet owner.

            Isabelle

            ________________________________
            From: Mother Stephania <srstephanie@...>
            To: Isabelle Bellavance <callimico@...>
            Cc: Fanciershealth List <fanciershealth@yahoogroups.com>
            Sent: Saturday, October 3, 2009 6:52:58 PM
            Subject: Re: [FAN-H] First case of cardio in 20 years of breeding...

            Hi Isabelle,

            I should apologize for my previous post. I'm usually much more careful about information when I post ... but while I live in Montreal, I'm currently visiting a friend in Toronto and made the mistake of trying to reply too quickly this morning (my friend took me to Niagara Falls today).

            I had the incredible experience last June of attending the annual meeting of the American College of Veterinary Internal Medicine (ACVIM Forum) which met in Montreal. I'm sorry you didn't have the opportunity to attend as well while they were here. The last day of the ACVIM Forum, Dr Mark Kittleson (I know I don't need to tell you who he is) gave a 4 hour "graduate course" on Feline HCM. It was great.

            At the time, Dr Kittleson was only aware of the one mutation being found in Ragdolls, but it is true that I have heard that there have been a small number of Ragdolls with the Maine Coon mutation ... so, it is wise for Ragdoll breeders to test for both known mutations, though from what I've heard, only a very small number have been found to have the MC mutation. It is new to me that there have been cases of Ragdolls with clinical HCM that do not have either the MC or Ragdoll mutations (and other physical conditions like hyperthyroidism or hypertension have been ruled out so that it is primary HCM). The last time I asked, I was told all cases of HCM in Ragdolls could be accounted for by one of the known mutations.

            But I think that the best that breeders can do, for now, is to test for the mutations that we do know exist and breed away from them. Dr Kittleson (who, as you know, has worked primarily with Maine Coons for about 17 years), personally, would rather that not even heterozygotes be bred. His reasoning is that ... breeders, who by definition, use selective breeding to advance the breed, are only using about 10% of the available cats in breeding programs and selling the others as pets. He feels that rather than breeding heterozyous cats that may meet the breed standard better ... that breeders should replace them with negative cats that may not be perfect examples of the breed and would otherwise have been sold as pets. I'm not sure from a breeder's perspective (and I'm NOT a breeder) that there are not some problems in his theory ... but it is worth considering.

            Having said that, Dr Kittleson will concede that there may be some heterozygotes who have qualities that can't be found elsewhere that breeders want to preserve ... so he would suggest ONE and ONLY ONE breeding of a heterozygote to a negative cat and replace the heterozygote with a negative kitten. What is important (at least to me as a potential pet owner) is that breeders replace heterozygous cats within one generation. There after, they can honestly make claims that they do not have those two mutations in their breeding lines ... though, of course, it is still possible for an unknown mutation to still exist within the breed. However, I'm still under the impression (and I'd be interested in hearing more info if you have it) that clinical HCM in Ragdolls that don't have either of the two known mutations is very rare.

            From what I've heard, Ragdolls seem to be in a better position than most breeds. Even in Dr Kittleson's Maine Coon colony, he has cats with severe HCM that are negative for the MC (and RD) mutation. So they know they have an unidentified mutation causing disease ... and I think it is more common than unknown mutations in Ragdolls. I know RagaMuffins also have the RD mutation ... though, interestingly, all so far are heterozyous and none have clinical HCM ... but there are a small number of RagaMuffins with HCM and none of them have either the RD or MC mutations. So, like the MC, they know they have an unknown mutation that can't yet be tested for that causes disease. I think that the last I heard, in humans there are something like 400 or more mutations on 12 or so genes that can cause HCM ... so there could be many more mutations found in cats as well.

            While it is true that the homozygous cats are much more likely to have severe disease with an earlier onset and heterozyous cats more likely to have less severe (and frequently no clinical disease at all) with a later onset (and males generally have earier onset and more severe disease than females) ... the one point that Dr Kittleson made repeatedly is that it is a completely unpredictable disease. Some have mild disease that never progresses ... and others in the same litter can have an earlier onset of disease that progresses rapidly. He even has some that progress quickly to severe HCM but then stabilize for years. He hasn't found anything that consistently alters the course of disease (other than lasix after the onset of congestive heart failure). I could sense his frustration after so many years of research that very few answers have been found. All we can do at this point is to try to breed away from known mutations, scan all breeding cats
            regularly and continue the research.

            I agree that the 25% figure of HCM mutation in Ragdolls is misleading ... not just because many do not show clinical signs of disease ... but because the cats selected for DNA testing are not arbitrary and representative of the entire breed. Only cats used in breeding programs are, for the most part, tested and breeders will generally firsttestcats that they have more suspicions about (e.g. related to cats that had heart disease, etc). Once cats have tested negative, then it is unlikely that any of their offspring will be DNA tested (at least for those mutations) since both parents were tested negative. So, those many negative offspring will not be included in the percentages of tested cats (of whom 25% have been found to be positive). I hope that makes sense. I think (again as a non-breeder) that there needs to be a balance between not panicking over the mutations on the one hand, and taking them seriously and breeding away from them as quickly as
            possible on the other.

            While there isn't anything we can do about unknown mutations ... other than having breeding cats scanned (i.e. via echocardiogram by a cardiologist) regularly during and after their breeding years, I think (from my perspective as a pet owner) that at this point, ethical breeding means DNA testing for the mutations that we do have tests for and eliminating them as soon as possible. Dr Kittleson feels that it is unethical to sell heterozygous kittens, and breeders should be prepared to keep heterozygous kittens that they produce ... but if they are offered for sale, he believes that the potential owner should be fully informed of the test results and what that means in terms of potential of developing HCM. I hope no breeder will ever feel it is okay to sell a heterozygous kitten because they "may" not ever develop HCM. I hope that all breeders will use the DNA tests to eliminate ASAP the known causes of HCM ... and keep scanning all cats to identify cats
            that may have unknown mutations causing HCM. That is all any pet owner could ever ask of a breeder and the best that can be done for now to produce healthy kittens ... in any breed.

            I also believe that pet owners need to be better educated so that they will understand the importance of informing breeders of any serious health issue with their cats. If I were a breeder ... I think it would be good to have in the contract a requirement that any cats that die unexpectedly, particularly at a young age, be given a necropsy ... especially looking for HCM ... with the results given to the breeder. Pet owners have an important role in helping the health of breeds.

            Sorry to get on a soap box. I'm hoping to get a new kitten soon and these issues have become personal as well as important to me. I am very appreciative of all the good and conscientious breeders that do all they can to produce healthy kittens.

            Again, my apologies for the quick reply this morning that gave misleading information and left out important points. Thank you for correcting them.

            Stephanie in Montreal (currently visiting Toronto)

            PS: Let me know if you would like a copy of the Proceedings for Dr Kittleson's four 1 hour talks at last Junes ACVIM forum.

            ________________________________

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