Breeds Affected: Maine Coon Cat
Samples Accepted: Blood, Buccal Swabs
Disease Information: HCM is the most common heart disease in cats. The heart wall thickens, leading to heart failure and blood clot formation.
Inheritance Information: HCM is autosomal dominant, with variable penetrance, meaning that animals which have just one copy of this allele are affected, but that clinical signs and severity may vary. 50% of their offspring will also be affected
The possible genotypes are:
n/n The cat is normal, and cannot produce affected offspring.
n/HCM The cat is affected, and 50% of the offspring will be affected.
HCM/HCM The cat is affected, and 100% of the offspring will also be affected.
– Affected animals (n/HCM, HCM/HCM) should not be used for breeding.
Test Information: This mutation test identifies a single base pair change in exon 3 of the MYBPC3 gene that is specific to Maine Coons and related mixes. Up to one third of Maine Coons may have a copy of this mutation; however, it is believed that other causative mutations may exist in the population that have not yet been discovered. Animals with two copies of the mutation usually have an earlier onset of the disease.
Longeri, M., Ferrari, P., Knafelz, P., Mezzelani, A., Marabotti, A., Milanesi, L., Pertica, G., Polli, M., Brambilla, P.G., Kittleson, M., Lyons, L.A., Porciello, F.: Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy. J Vet Intern Med 27:275-85, 2013. Pubmed reference: 23323744. Doi: 10.1111/jvim.12031.
Meurs, KM., Sanchez, X., David, RM., Bowles, NE., Towbin, JA., Reiser, PJ., Kittleson, JA., Munro, MJ., Dryburgh, K., Macdonald, KA., Kittleson, MD.: A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet 14:3587-93, 2005. Pubmed reference: 16236761. Doi: 10.1093/hmg/ddi386.
Further information is available at the Online Mendelian Inheritance in Animals website.