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Cardiac Health & Myosin Binding Protein C3

Clinician's Brief (Capsule)


|February 2015

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Hypertrophic cardiomyopathy (HCM) in ragdoll cats has been associated with a substitution mutation in the myosin binding protein C3 (MYBPC3) gene. Prognosis is poor with HCM, and HCM is more likely to be severe in those homozygous for the mutation; however, the outcome for ragdoll cats tested for the MYBPC3 mutation has not been studied. Breeders and owners of MYBPC3 genotyped ragdolls completed a questionnaire to determine the influence of genotype on survival. Questions focused on signalment, genotype, current status (alive or dead), and date and circumstance of death (cardiac or noncardiac), if applicable.

Results found ragdoll cats homozygous for the C3 mutation were more likely to die from cardiac death and had a significantly shorter time before cardiac death. Mean survival time for homozygous cats was 5.65 years compared with >16.7 years and >15.2 years for heterozygous and wild-type (WT) cats, respectively. There was no significant difference in survival time between heterozygous or WT cats. Data suggest an incomplete dominance inheritance pattern. Study information may be helpful in counseling breeders and owners regarding genetic testing outcomes.


Now that genetic testing is available for a specific genetic mutation, cats can be tested at an early age. Cats that test positive for the mutation can be brought to their veterinarian where owners can ask 2 basic questions: 1) What does this mean in terms of health and disease development, and; 2) Should I breed my cat? In this study, homozygous-positive cats were at a significantly greater risk for dying from a cardiac cause, and for dying at a much younger age, than heterozygous-positive cats or cats without the mutation. Thus, answers for the questions above would be: 1) If the cat is homozygous positive for the mutation, it is more likely to develop and suffer clinical signs from HCM. If the cat is heterozygous-positive for the mutation, this does not necessarily mean that it will develop the disease or clinical signs associated with HCM. And, 2) breeders should not breed homozygous positive cats but should be encouraged to breed heterozygous-positive cats to cats negative for the mutation to reduce the incidence of homozygous-positive cats and cats developing clinical signs.—Amara Estrada, DVM, DACVIM (Cardiology)


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