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Introduction
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 two breeds of cats, Maine Coon and Ragdoll, the condition is inherited due to breed specific mutations in the cardiac myosin binding protein C gene (MYBPC3).
Procedure for collecting a feline DNA sample
SUBMISSION FORM - Allow 5-10 business days for test results.
Maine Coon HCM
The mutation for inherited HCM in Maine Coon cats produces moderate to severe cardiac disease which can lead to sudden death by age 4 years or less for cats that carry two copies of the mutation (homozygotes). Cats that carry one copy of the mutation (heterozygotes) have a longer life expectancy, but will still develop HCM. The mutation is a single base pair change in MYBPC3 that disrupts the production of protein needed for normal heart muscle development. The Veterinary Genetics Laboratory offers a test for the Maine Coon-specific HCM mutation.
Results reportd as:
| Test Result | Maine Coon HCM Status |
|---|---|
| N/N | Normal, cat does not have the Maine Coon HCM mutation* |
| N/HCMmc | One copy of the Maine Coon HCM mutation present; cat is affected |
| HCMmc/HCMmc | Two copies of the Maine Coon HCM mutation present; cat is affected |
Note: This test only detects the mutation associated with HCM in Maine Coon cats and outcrosses as described by Meurs et al. 2005. Test performed under license from the University of California.
Ragdoll HCM
The breed-specific mutation for HCM in Ragdoll cats produces early onset of the disease with average age at diagnosis of 15 months. It also appears that homozygotes (2 copies) for the mutation have an earlier age of onset of disease than heterozygotes (1 copy). The mutation 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 Veterinary Genetics Laboratory offers a test for the Ragdoll breed specific HCM mutation.
Results reportd as:
| Test Result | Ragdoll HCM Status |
|---|---|
| N/N | Normal, cat does not have the Ragdoll HCM mutation |
| N/HCMrd | One copy of the Ragdoll HCM mutation present; cat is affected |
| HCMrd/HCMrd | Two copies of the Ragdoll HCM mutation present; cat is affected |
Note: This test only detects the mutation associated with HCM in Ragdoll cats and outcrosses as described by Meurs et al. 2007.
References:
Meurs K., X. Sanchez, R.M. David, N.E. Bowles, J.A. Towbin, P.J. Reiser, J.A. Kittleson, M.J. Munro, K. Dryburgh, K.A. MacDonald, M.D. Kittleson. A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Human Molecular Genetics (2005) Vol.14, No. 23, doi:10.1093/hmg/ddi386.
Meurs, K., M.M. Norgard, M.M. Ederer, K.P. Hendrix, M.D. Kittleson. A substitution mutation in the myosin binding protein C gene in ragdoll hypertrohic cardiomyopathy. Genomics 90 (2007) 261-264