Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats

ObjectivesA mutation identified in the myosin binding protein C3 gene (MYBPC3 R820W) has been associated with hypertrophic cardiomyopathy (HCM) in Ragdoll cats. Ragdolls with HCM are reported to have a poor prognosis and homozygous cats seem particularly likely to develop severe HCM, although the outcome in Ragdolls tested for the MYBPC3 mutation has not been reported. We aimed to determine the influence of genotype on survival in Ragdoll cats using a questionnaire, and hypothesized that homozygous Ragdolls had shorter lifespans and were more likely to suffer cardiac death than heterozygous or wild-type (WT) cats.Animals251 client owned Ragdoll cats.MethodsA questionnaire for breeders/owners of MYBPC3 genotyped Ragdolls included items related to genotype, age, sex, current status (alive/dead), and date and circumstances of death. Death was categorized as cardiac or non-cardiac. Survival was analyzed using Kaplan–Meier curves and log rank tests.ResultsCompleted questionnaires were received for 236 cats (156 WT, 68 heterozygous, 12 homozygous). Median survival time for homozygous cats was 5.65 years (95%CI 0.4–10.9 years) compared to heterozygous (>16.7 years) or WT (>15.2 years). Homozygous cats were more likely to die from cardiac death (p = 0.004 vs. WT; p = 0.003 vs. heterozygous) and had significantly shorter time to cardiac death (vs. WT p < 0.001; vs. heterozygous p < 0.001).ConclusionsRagdoll cats homozygous for the MYBPC3 R820W mutation have a shorter survival time than WT or heterozygous cats. This suggests a mode of inheritance that follows an incomplete dominance pattern.