Peer-reviewed veterinary case report
MYBPC3-A31P gene mutation linked to heart disease in Maine Coon cats
By Mary, Jérôme et al.·Published in Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology·2010·ANTAGENE, France·View original on PubMed →
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Original publication title: Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed.
- Species:
- cat
Plain-English summary
A study found that a genetic mutation linked to heart disease was common in Maine Coon cats in Europe. Out of nearly 2,800 Maine Coons tested, about 42% had the MYBPC3-A31P mutation, which is associated with hypertrophic cardiomyopathy (HCM), a condition that causes the heart to thicken and can lead to serious health issues. Among a smaller group of Maine Coons that underwent heart scans, 34% carried the mutation, but only 7% showed signs of HCM. This suggests that while the mutation is prevalent, not all affected cats will develop heart problems.
People also search for: Maine Coon heart disease symptoms · cat HCM treatment · MYBPC3 mutation in cats
Abstract
OBJECTIVES: The MYBPC3-A31P mutation has been identified in the USA in a colony of Maine Coon cats with an autosomal dominant hypertrophic cardiomyopathy (HCM). The objectives of this prospective study were: 1) to evaluate the prevalence of this mutation in a large feline population from Europe; 2) to compare these data with the prevalence of HCM in the Maine Coon breed. ANIMALS AND METHODS: 1) 3757 cats from different breeds including 2744 Maine Coon cats were screened for the mutation. 2) 164/2744 Maine Coon cats were subjected to echocardiography (Echo-Group, mean age = 2.6 years [0.3-11.5]). RESULTS: 1) In the whole study population, the mutation was only found in Maine Coon cats (prevalence = 41.5%), except for one British Longhair cat. 2) 55/164 (34%) cats from the Echo-Group carried the mutation while only 12/164 (7%; 5/48 heterozygous, 5/7 homozygous mutated, 2/109 homozygous wild-type cats) showed HCM. MYBPC3-A31P was associated with a significant increased risk of HCM (relative risk = 9.91). CONCLUSION: The MYBPC3-A31P mutation is highly prevalent in Maine Coon cats in Europe and appears to be breed specific with potential marginal events. Young unaffected mutated cats and affected homozygous wild-type cats illustrate the phenotypic and etiological heterogeneity of feline HCM, as demonstrated in humans.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/21051304/