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Hypertrophic Cardiomyopathy Ragdoll Type (HCM)
| Acronym: | HCM, HCM3 |
| Gene: | MYBPC3 |
| Mutation: | c.2453C>T |
| Inheritance: | Autosomal dominant (with decreased penetrance) |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Feline hypertrophic cardiomyopathy (HCM), the most common heart disease in cats, is a clinically heterogeneous disorder that is characterized by progressive enlargement of the heart and thickening of the heart muscle, particularly of the left ventricle. Affected cats may progress into congestive heart failure, thromboembolic events, or sudden cardiac death. Sudden death has been noted in cats only a few years old although affected cats may live for 10 years or more before developing symptoms including exercise intolerance, fatigue, fainting, fluid collection in the lungs, abdomen, and limbs, or blood clots that arise in the heart and travel to the kidney, brain, or legs. Ultrasound screening is a common tool utilized by veterinarians to see this disorder, though it can be difficult to diagnose this condition.
No data are available on the prevalence of the mutation in Ragdolls. Affected cats have an average age of diagnosis of 15 months compared to the reported age of diagnosis of 5–7 years for the general feline hypertrophic cardiomyopathy population. Cats homozygous for the mutation develop moderate to severe disease and most die of their disease at 4 years of age or less.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Godiksen, M.T., Granstrøm, S., Koch, J., and Christiansen, M. (2011). Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation – the clinical significance of having the mutation. Acta Vet Scand 53, 7.
Longeri, M., Ferrari, P., Knafelz, P., Mezzelani, A., Marabotti, A., Milanesi, L., Pertica, G., Polli, M., Brambilla, P.G., Kittleson, M., et al. (2013). Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy. J. Vet. Intern. Med. 27, 275–285.
Meurs, K.M., Norgard, M.M., Ederer, M.M., Hendrix, K.P., and Kittleson, M.D. (2007). A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics 90, 261–264.
Shelton, L. and Helmrich, H.G. (2006). Heritable diseases and abnormalities in cats.