title: Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats.
abstract: OBJECTIVE
  A 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.
  
  
  METHODS
  251 client owned Ragdoll cats.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  Completed 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).
  
  
  CONCLUSIONS
  Ragdoll 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.
authors.affiliation: Clinical Science and Services, Royal Veterinary College, Hawkshead Lane, North Mymms, Hertfordshire, AL9 7TA, United Kingdom. Electronic address: kborgeat@rvc.ac.uk.
authors.forename: Kieran
authors.initials: K
authors.lastname: Borgeat
authors.affiliation: Langford Veterinary Services, University of Bristol, Langford House, Lower Langford, Bristol, BS40 5DU, United Kingdom.
authors.forename: Domingo
authors.initials: D
authors.lastname: Casamian-Sorrosal
authors.affiliation: Langford Veterinary Services, University of Bristol, Langford House, Lower Langford, Bristol, BS40 5DU, United Kingdom.
authors.forename: Chris
authors.initials: C
authors.lastname: Helps
authors.affiliation: Clinical Science and Services, Royal Veterinary College, Hawkshead Lane, North Mymms, Hertfordshire, AL9 7TA, United Kingdom.
authors.forename: Virginia
authors.initials: V
authors.lastname: Luis Fuentes
authors.affiliation: Clinical Science and Services, Royal Veterinary College, Hawkshead Lane, North Mymms, Hertfordshire, AL9 7TA, United Kingdom.
authors.forename: David J
authors.initials: DJ
authors.lastname: Connolly
mesh_terms: D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000401:mortality / Q000662:veterinary*; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D002371:Cat Diseases / Q000235:genetics* / Q000401:mortality; D002415:Cats; D020022:Genetic Predisposition to Disease; D009154:Mutation; D011379:Prognosis; D011795:Surveys and Questionnaires
chemical_list: D002352:Carrier Proteins
keywords: Cardiomyopathy; Feline; Genetics