The influence of clinical and genetic factors on left ventricular wall thickness in Ragdoll cats

J Vet Cardiol. 2015 Dec:17 Suppl 1:S258-67. doi: 10.1016/j.jvc.2015.06.005.


Objectives: To investigate the effect of various genetic and environmental modifiers on left ventricular (LV) wall thickness in a cohort of cats genotyped for the myosin binding protein C3 mutation (MYBPC3).

Animals: Sixty-four Ragdoll cats.

Methods: All cats were screened for HCM with echocardiography and genotyping for the HCM-associated MYBPC3:R820W mutation. Cats were also genotyped for previously identified variant polymorphisms of the angiotensin-converting enzyme (ACE) and cardiac beta-adrenergic receptor (ADRB1) genes. Plasma N-terminal pro-B-type natriuretic peptide and cardiac troponin I were also measured. Associations were evaluated between genotype (MYBPC3 negative/positive, and ACE and ADRB1 negative/heterozygous/homozygous), patient factors (body weight, age and sex) and echocardiographic measurements of LV wall thickness.

Results: Male cats had greater maximum wall thickness (LVmax; 5.8 mm, IQR 5.1-6.4 mm) than females (4.7 mm, IQR 4.4-5.3 mm, p = 0.002). Body weight positively correlated with LVmax (ρ = 0.604, p < 0.001). The MYBPC3:R820W-positive cats had a greater LVmax (5.44 mm, IQR 4.83-6.28 mm) than the negative cats (4.76 mm, IQR 4.36-5.32 mm, p = 0.001). Also, the ACE polymorphism genotype was associated with LVmax: the homozygous cats (5.37 mm, IQR 5.14-6.4 mm) had greater LVmax than the heterozygous cats (4.73 mm, IQR 4.41-5.55 mm, p = 0.014). Only the MYBPC3 genotype and body weight were independently associated with wall thickness in multivariable analysis.

Conclusions: This study provides evidence that the MYBPC3:R820W mutation is independently associated with LV wall thickness in Ragdoll cats. Body weight is also independently associated with maximum LV wall thickness, but is not currently accounted for in HCM screening. In addition, other genetic modifiers may be associated with variation in LV wall thickness in Ragdolls.

Keywords: Breed screening; Cardiomyopathy; Genetics; Modifier genes.

MeSH terms

  • Animals
  • Body Weight
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cats / anatomy & histology*
  • Cats / genetics
  • Female
  • Gene Expression Regulation
  • Genotype
  • Heart Ventricles / anatomy & histology*
  • Male
  • Mutation
  • Polymorphism, Genetic
  • Sex Factors


  • Carrier Proteins
  • myosin-binding protein C