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The influence of clinical and genetic factors on left ventricular wall thickness in Ragdoll cats
Kieran Borgeat1, Joshua Stern2, Kathryn M Meurs3
1Royal Veterinary College, Hatfield, AL9 7TA, United Kingdom; Highcroft Veterinary Referrals, Bristol, BS14 9BE, United Kingdom.
Insights
The myosin binding protein C3 (MYBPC3) mutation is linked to increased left ventricular wall thickness in Ragdoll cats. Body weight also independently affects this measurement, highlighting potential factors in hypertrophic cardiomyopathy screening.
Area of Science:
- Cardiology
- Genetics
- Veterinary Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a common cardiac disease in cats.
- Genetic mutations, such as in the MYBPC3 gene, are known risk factors.
- Environmental and other genetic factors may also influence disease presentation.
Purpose of the Study:
- To examine how genetic variations (MYBPC3, ACE, ADRB1) and environmental factors (body weight, age, sex) affect left ventricular (LV) wall thickness in Ragdoll cats.
- To identify independent predictors of LV wall thickness in this cohort.
Main Methods:
- Echocardiography and genotyping were performed on 64 Ragdoll cats.
- Cats were genotyped for MYBPC3:R820W, ACE, and ADRB1 gene variants.
- Associations between genotypes, patient factors, and LV wall thickness were analyzed.
Main Results:
- Male cats and cats with the MYBPC3 mutation exhibited greater LV wall thickness.
- Body weight showed a positive correlation with LV wall thickness.
- The angiotensin-converting enzyme (ACE) polymorphism genotype was also associated with LV wall thickness.
Conclusions:
- The MYBPC3:R820W mutation is an independent risk factor for increased LV wall thickness in Ragdoll cats.
- Body weight is another independent factor influencing LV wall thickness, crucial for HCM screening.
- Further research into other genetic modifiers is warranted.
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.
