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Influence of Clinical Aspects and Genetic Factors on Feline HCM Severity and Development
Victoria Korobova1, Yulia Kruglova1
1Moscow State Academy of Veterinary Medicine and Biotechnology Named after K.I. Skryabin, 23 Akademika Skryabina str., Moscow 109472, Russia.
Insights
Hypertrophic cardiomyopathy (HCM) in cats is linked to the MYBPC3 gene mutation. Homozygous cats show severe HCM, while disease onset increases with age, particularly after seven years.
Area of Science:
- Veterinary Cardiology
- Genetics
- Feline Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a common cardiac disease in cats, often with a hereditary basis.
- Mutations in the MYBPC3 and MYH7 genes are frequently implicated in feline HCM.
- Understanding genetic factors and age-related penetrance is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the impact of MYBPC3 gene p.A31P mutation (c.91G>C) heterozygosity and homozygosity on HCM severity and development in cats.
- To compare echocardiographic and clinical data for objective HCM detection across different cat breeds and ages.
- To assess the age-related penetrance of HCM in relation to the identified MYBPC3 mutation.
Main Methods:
- Genetic analysis to identify heterozygosity or homozygosity for the p.A31P mutation in the MYBPC3 gene.
- Echocardiographic assessment to evaluate cardiac structure and function.
- Clinical evaluation of cats across various age groups and breeds.
- Statistical analysis to correlate genotype, age, and HCM severity.
Main Results:
- HCM was diagnosed in 59% of the 103 cats with heart disease studied.
- Of cats with HCM, 34% were heterozygous and 26% were homozygous for the p.A31P MYBPC3 mutation.
- Homozygous cats exhibited moderate to severe HCM, indicating high penetrance and increased risk of cardiac death.
- HCM incidence increased with age, with the highest prevalence (44.3%) observed in cats aged 7 years and older.
Conclusions:
- The p.A31P mutation in the MYBPC3 gene is strongly associated with severe HCM in cats, particularly in homozygous individuals.
- HCM exhibits age-related penetrance, with a higher incidence in older cats (≥7 years).
- Genotyping for the MYBPC3 mutation and age are critical factors in assessing HCM risk and severity in cats.
Abstract:
Hypertrophic cardiomyopathy (HCM), which is associated with thickening of the left ventricular wall, is one of the most common heart pathologies in cats. This disease has a hereditary etiology and is primarily related to mutations in the MYBPC3 and MYH7 genes. This study aims to determine the effect of the presence of heterozygosity or homozygosity for the p. A31P mutation (c.91G>C) in the MYBPC3 gene in cats (Maine Coon) of different ages referring to the HCM severity and development, and to compare echocardiographic data and various clinical aspects for the most objective detection of disease in cats of different breeds. The incidence of HCM was 59% of the 103 cases of heart disease in cats in this study. In 23 cats diagnosed with HCM, cats heterozygous for the mutation accounted for 34%, and homozygous cats accounted for 26%. Cats homozygous for this mutation had moderate to severe HCM, suggesting an association with high penetrance of HCM and a significant risk of cardiac death in this group. The penetrance of the heterozygous type was lower than that of the homozygous genotype. This study also indicates that HCM has some age-related penetrance. The disease did not occur in the study group of cats aged up to 1 year, whereas at the age of 7 and older, the percentage of animals diagnosed with HCM was the highest and amounted to 44.3% of the total number of studied cats with HCM.
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