Hypertrophic Cardiomyopathy (HCM) in Ragdolls

Quick Summary

Cats affected by hypertrophic cardiomyopathy (HCM) are at risk of sudden cardiac death. In Ragdoll cats, a breed-specific mutation has been found to be associated with increased risk for HCM.

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Phenotype: Cats affected by hypertrophic cardiomyopathy (HCM) are at risk of sudden cardiac death. Ragdoll cats with two copies of the disease-associated mutation are at high risk of developing severe signs of HCM, usually between 1-2 years of age, and have a greater likelihood of early cardiac death. Cats that carry one copy of the mutation are not likely to show signs of the disease and may live a normal lifespan.

Mode of Inheritance: Autosomal dominant (incomplete penetrance)

Alleles: N = Normal, HCMrd = hypertrophic cardiomyopathy-associated mutation

Breeds appropriate for testing: Ragamuffin, Ragdoll and related outcrosses. This variant has also been detected in the American Bobtail (Longhair), Highlander and Munchkin.

Explanation of Results:

  • Cats with N/N genotype are not predicted to be at increased risk of HCM and cannot transmit this hypertrophic cardiomyopathy-associated mutation to their offspring.
  • Cats with N/HCMrd genotype may be at increased risk of HCM. They will transmit this hypertrophic cardiomyopathy-associated mutation to 50% of their offspring.
  • Cats with HCMrd/HCMrd genotype are at high risk of developing HCM, a potentially fatal condition. 

Turnaround Time
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Price

$44 one test per animal

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Sample Collection:

Cat DNA tests are carried out using cells collected from your cat's cheeks and gums using household cotton swabs.

The cat DNA submission form with instructions and a place to tape the cotton swabs is sent to you via email after you place an order, and can be printed from your home computer. Test kits are not mailed.

Step-By-Step Instructions:

1.

Person looking at different brands of cotton swabs in a storePurchase regular household cotton swabs for cat DNA collection (the cotton swabs can be purchased at a pharmacy or drug store)

 

2.

Label indicating both ends of the two cotton swabsUse both ends of the two cotton swabs for a total of four swabs.

 

3.

Demonstration of swabbing the inner cheek of a cat with a cotton swabCollect the DNA sample by swabbing the cheek and gums of the cat. Wave the swab in the air for 10-15 seconds to air dry it before attaching it to the submission form. We recommend swabbing different areas of the cat's cheeks.

 

 

 

 

4.

Cotton swabs taped to bar-coded submission form for VGLAfter swabbing the cheek and gums, tape the cotton swabs to the bar-coded submission form printed from your MyVGL account.

Additional Details

Hypertrophic cardiomyopathy is the most common cardiac disease in cats. Affected cats are at risk of sudden cardiac death due to defects that produce increased left ventricular heart muscle thickness. In Ragdolls, the condition is inherited due to breed specific mutations in the cardiac myosin binding protein C gene (MYBPC3).

The Ragdoll HCM mutation, known as R820W, is a single base pair change in MYBPC3 that is thought to alter the shape and function of this essential protein for normal heart muscle development. The same R820W mutation has been found to be associated with HCM and left ventricular non-compaction in humans (see reference below, Ripoll et al. 2010). Recent studies show cats that are heterozygous (1 copy) for the mutation are not likely to show signs of the disease and may live a normal lifespan. Homozygous (2 copies) cats for the mutation are at high risk of developing severe HCM signs, usually between 1-2 years of age and have a greater likelihood of early cardiac death. Infrequently, homozygous cats do not show clinical signs of HCM.

Breedings between 2 heterozygous cats are expected to produce 25% high risk kittens. It is not recommended to use cats homozygous for the R820W mutation in a breeding program.

Testing for the Ragdoll HCM mutation to helps owners and breeders identify the Ragdoll HCM status of their cats.

 

Note: This test only detects the R820W mutation associated with HCM in Ragdoll cats and outcrosses as described by Meurs et al. 2007. The VGL offers a separate test for the A31P mutation associated with HCM in Maine Coon cats.
Other Resources

UC Davis School of Veterinary Medicine Health Topics

Type of Sample
Cotton Swab

Species

Cat

Breed

American Bobtail Highlander Munchkin Ragamuffin Ragdoll
Type of Test
Health
Results Reported As
Test Result Ragdoll HCM Status
N/N Normal. Cat does not have the Ragdoll HCM mutation.
N/HCMrd 1 copy of the Ragdoll HCM mutation present.
HCMrd/HCMrd 2 copies of the Ragdoll HCM mutation present. Cat is at high risk for HCM.
References

Meurs, K.M., Sanchez, X., David, R.M., Bowles, N.E., Towbin, J.A., Reiser, P.J., Kittleson, J.A., Munro, M.J., Dryburgh, K., MacDonald, K.A., & Kittleson, M.D. (2005). A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Human Molecular Genetics, 14(23), 3587-3593. doi: 10.1093/hmg/ddi386

Meurs, K.M., Norgard, M.M., Ederer, M.M., Hendrix, K.P., & Kittleson, M.D. (2007). A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics, 90(2), 261-264. doi: 10.1016/j.ygeno.2007.04.007

Ripoll Vera, T., Monserrat Iglesias, L., Hermida Prieto, M., Ortiz, M., Rodriguez Garcia, I., Govea Callizo, N., Gómez Navarro, C., Rosell Andreo, J., Gámez Martínez, J.M., Pons Lladó, G., Cremer Luengos, D., & Torres Marqués, J. (2010). The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. International Journal of Cardiology, 145(2), 405-407. doi: 10.1016/j.ijcard.2010.04.032

Borgeat, K., Casamian-Sorrosal, D., Helps, C., Luis Fuentes, V., & Connolly, D. J. (2014). Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats. Journal of Veterinary Cardiology: The Official Journal of the European Society of Veterinary Cardiology, 16(2), 73-80. doi: 10.1016/j.jvc.2014.03.005
 
Kittleson, M. D., Meurs, K. M., & Harris, S. P. (2015). The genetic basis of hypertrophic cardiomyopathy in cats and humans. Journal of Veterinary Cardiology: The Official Journal of the European Society of Veterinary Cardiology, 17 Suppl 1(Suppl 1), S53–S73. doi: 10.1016/j.jvc.2015.03.001
 
Anderson, H., Davison, S., Lytle, K. M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O. P., Lohi, H., & Donner, J. (2022). Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS genetics, 18(6), e1009804. doi: 10.1371/journal.pgen.1009804

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