Breeds Affected: Ragdoll 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 the MYBPC3 gene that is specific to Ragdolls and related mixes. Up to one third of Ragdolls with 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.
Meurs, KM., Norgard, MM., Ederer, MM., Hendrix, KP., Kittleson, MD.: A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics 90:261-4, 2007. Pubmed reference: 17521870. DOI: 10.1016/j.ygeno.2007.04.007.
Further information is available at the Online Mendelian Inheritance in Animals website.