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Per una buona causa, ovvero aiutare la ricerca sul HCM, Sphynx Forum Italia chiede a tutti i suoi iscritti di prendere in considerazione l'acquisto del "Calendario 2010" i cui proventi andranno devoluti per ricerca. Info e adesioni
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 Special Report to the Winn Feline Foundation

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Senior Sphynx
Senior Sphynx

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Data d'iscrizione : 02.01.08

MessaggioTitolo: Special Report to the Winn Feline Foundation   Mar Feb 09, 2010 5:21 pm


Feline Hypertrophic Cardiomyopathy:
Advice for Breeders
Mark Kittleson, DVM, PhD, DACVIM (Cardiology)
School of Veterinary Medicine
University of California, Davis
Rebecca Gompf, DVM, MS, DACVIM (Cardiology)
College of Veterinary Medicine,
University of Tennessee
Susan Little, DVM, DABVP (Feline)
President, Winn Feline Foundation
What is hypertrophic cardiomyopathy?
Hypertrophic cardiomyopathy
(HCM) is the most common heart disease of cats, whether they are random
bred or pedigreed. It is a heart muscle disease in which the papillary
muscles (the muscles in the left ventricle that anchor the mitral
valve) and the walls of the left ventricle become abnormally thickened.
HCM is often a progressive disease, and a proportion of affected cats
develop heart failure if the muscle hypertrophy and subsequent scarring
of the heart muscle significantly affects heart function. Cats with the
disease may die suddenly and may develop a blood clot in the chamber
above the left ventricle (i.e., the left atrium) that often then gets
carried into the systemic arterial system, most commonly lodging in the
terminal aorta, stopping blood flow to the rear legs.
For more information on HCM, see: members.aol.com/jchinitz/hcm/index.htm
What causes HCM in cats?
This is currently unknown in most cats
although familial (hereditary) HCM has been observed in several breeds,
such as the Maine Coon and American Shorthair. Anecdotal information
suggests there is familial HCM in many other breeds. Heart muscle
hypertrophy in cats can be caused by other diseases, such as systemic
hypertension (high blood pressure) and hyperthyroidism. HCM is a
primary disease of the heart muscle. Hypertension and hyperthyroidism
cause secondary thickening of the left ventricle and so are not causes
of HCM (although it is possible that they may exacerbate the disease if
they become present in a cat with mild to moderate HCM). HCM is
diagnosed when these other causes are ruled out.
Is HCM genetic?
In Maine Coons and American Shorthairs, HCM has
been confirmed as an autosomal dominant inherited trait, as it is in
humans where over 200 gene mutations in 10 genes have been found to
cause the disease. The disease has variable expression; meaning some
cats are severely affected, others are only mildly to moderately
affected, and some cats may not have evidence of the disease yet
produce affected offspring.
Recently, a mutation in the cardiac myosin binding protein C
(cMyBP-C) gene causing HCM in the Maine Coon cat has been identified.
Undoubtedly, other mutations responsible for HCM in cats remain to be
discovered. However, since few veterinary cardiologists and geneticists
have the expertise to study genes, it may be some time before the
responsible gene or genes for each affected breed will be found. The
mutation identified as a cause of HCM in Maine Coon cats may not be the
same mutation or even on the same gene in other breeds. The genetics of
HCM in each breed will require investigation of each individual breed.
Can HCM have a nutritional cause?
There is no evidence in cats, humans or other species of animals that HCM can have a nutritional cause.
How is HCM diagnosed?
HCM is diagnosed using ultrasound of the
heart an echocardiogram. Echocardiography is a good way to detect
moderate to severely affected cats. However, it may not always detect
mildly affected cats where changes in the heart can be minimal.
Ideally, an echocardiogram to test cats for HCM should be performed by
a board-certified cardiologist or radiologist.
In addition to an echocardiogram, other tests may also be useful in
assessing cats with HCM. For example, a chest x-ray is necessary to
detect heart failure in cats with severe HCM. An electrocardiogram is
useful in cats that have abnormal heart rhythms. Blood pressure
measurement and blood testing for hyperthyroidism are indicated to rule
out other diseases that mimic HCM, especially mild to moderate HCM.
A genetic test is now available for the known cMyBP-C mutation
causing HCM in Maine Coon cats. The test is available from the
Veterinary Cardiac Genetics Lab of Dr. Kathryn Meurs at the College of
Veterinary Medicine, Washington State University (http://www.vetmed.wsu.edu/deptsvcgl/).
The test can identify which cats have the mutation. If a cat is
identified as having the mutation, the test can also determine whether
the cat carries one copy of the gene (a heterozygote) or two copies of
the gene (a homozygote).
Should my cats be tested for HCM and how often should they be tested?
clinical practice, the most common patients tested for HCM with
echocardiography are cats with suggestive clinical signs of heart
disease, such as a heart murmur. Testing cats used in a pedigreed
breeding program is a more difficult endeavor. Echocardiography is not
a perfect tool for diagnosis of HCM some affected individuals will
escape detection and access to good quality ultrasound services may be
difficult and expensive for some breeders. At the very least, breeding
cats should be ausculted (examined by a vet with a stethoscope) for
heart murmurs or arrhythmias once yearly. Any cat with an abnormality
should have an echocardiogram. A significant percentage of cats with
HCM will not have a heart murmur, however.
Since HCM can occur at any age, a single normal echocardiogram does
not guarantee a cat is free of disease. Breeding cats should probably
have an echocardiogram yearly during their breeding years. Examining
retired cats periodically is also advantageous as this may allow the
identification of affected cats that have offspring in a breeding
A Maine Coon cat that tests negative for the cMyBP-C mutation is not
guaranteed to be free of HCM, for it is not known if other mutations
causing HCM are present in this breed. Ideally, cats that test negative
for the cMyBP-C mutation should still undergo echocardiogram screening.
Cats that test positive for the disease should not be bred. They will
most likely develop the disease at some time during their life although
it may be too mild to detect even on an echocardiogram.
At what age should a cat be tested for HCM?
HCM can affect cats
at any age. It has been seen in kittens only a few months of age and in
cats over the age of 10. In Maine Coons, most affected male cats have
evidence of disease by 2 years of age, and most affected females have
evidence of disease by 3 years of age although instances have been
documented where the disease has not shown up until much later.
Ragdolls with severe disease seem to develop it earlier in life, often
at under 1 year of age. Guidelines for other breeds have not yet been
developed. It is therefore hard to recommend a specific age to start
testing. It may make sense to screen most breeding cats with an
echocardiogram for the first time around the age of 2 years. Maine
Coons may be tested for the cMyBP-C mutation as kittens.
What do I do if my cat is diagnosed with HCM?
The cat should be
removed from the breeding program and all offspring should be watched
closely for the development of HCM. Statistically, 50% of the cats
offspring would be expected to have the genetic mutation that causes
HCM if one parent was a heterozygote. However, the most prudent
approach may be not to use any of the offspring in a breeding program.
The offspring of Maine Coon cats with the cMyBP-C mutation should be
individually tested to determine their status.
The parents of an affected cat should also be examined with
echocardiography (and tested for the cMyBP-C if a Maine Coon), as one
of them likely carries a gene mutation for HCM. In some cases,
identification of the affected parent may be difficult, especially if
the disease is mild. In these cases, the most prudent approach may be
to remove both parents from the breeding program. It is possible for a
cat to develop a spontaneous mutation that causes HCM during embryonic
development but this is an unlikely cause in a breed known to have the
All breeders that are using cats related to an affected cat should
be notified that a cat has been diagnosed with HCM. Similarly, pet
owners should be notified that a relative has been diagnosed with the
disease. Echocardiographic examination (and genetic testing if a Maine
Coon) of cats related to the affected cat should be performed.
Will we ever eliminate HCM from my breed?
The tools we currently
have to diagnose HCM (i.e., echocardiography and necropsy) are not
perfect and will not allow us to totally eliminate this disease.
However, echocardiographic screening will be able to reduce the
incidence of HCM within a breed if enough breeders are involved.
The identification of the cMyBP-C mutation in the Maine Coon and the
development of a genetic test provide breeders with a new tool to
reduce the prevalence of or theoretically eliminate the mutation within
this breed by not breeding affected cats. Breeders should use all the
information they can gather about HCM in family lines, including
pedigree analysis based on accurate identification of affected cats.
Any cat that dies suddenly or dies from HCM should have a necropsy
(i.e., post mortem examination). Most cats with HCM will have a heart
that weighs more than 20 grams and most cats with severe HCM will have
a heart that weighs more than 30 grams. Myocardial fiber disarray, the
hallmark microscopic heart muscle abnormality seen in humans with
familial HCM is seen in all Maine Coon cats with HCM. Unfortunately,
most veterinary pathologists are not trained to recognize this lesion.
In the long term, we will need a genetic test for HCM in each breed.
A genetic test allows us to identify affected cats before they were
bred and do so accurately. Since the disease is inherited as an
autosomal dominant trait, once a mutation is identified, if all
breeders cooperated by testing their breeding cats for the mutation the
disease could be eliminated from the breed within several generations.
However, the money and resources necessary to identify the gene or
genes and to develop a genetic test for each breed are scarce in
veterinary medicine. Breeders and cat fanciers can help by supporting
research through organizations such as the Ricky Fund established by
the Winn Feline Foundation.
Can two normal parents produce a kitten with HCM?
Since HCM is
known to be an autosomal dominant trait in the breeds where the
inheritance is known, each affected cat must have one affected parent.
However, there are possible situations in which an affected cat may
come from two apparently normal parents.
The first possibility is that one of the parents has been
misdiagnosed. This can happen due to inexperience of the
ultrasonographer or poor quality equipment. It can also happen if a
cats status is decided on the basis of only one or two ultrasounds
early in life. Since HCM can develop at any age, a cat that is normal
on ultrasound one year could still have HCM and show signs later in
Since the trait has variable expression, not every affected cat will
have echocardiographic evidence of HCM. It is therefore possible for a
cat to test negative for HCM on ultrasound, and yet still carry a
genetic mutation and pass it to offspring.
Finally, it is possible for spontaneous mutations to occur in cats
from normal parents. These cats may then pass on their mutation to
offspring. We do not know how often spontaneous mutations causing HCM
occur in cats. Statistically, spontaneous mutations are more likely to
occur in random bred cats than in pedigreed cats.
What does "HCM free cattery" mean?
There is no universally agreed
upon definition of an HCM free cattery. The terminology is currently
unclear, as different breeders mean different things when they use this
term. Ideally, each breed should develop a specific definition and
guidelines for use of this designation for catteries.

TICA outstanding cattery
since 1996

Se fosse possibile incrociare l'uomo con il gatto, la cosa migliorerebbe l'uomo, ma di certo peggiorerebbe il gatto.
Mark Twain

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