Deutsch
Hrvatski
Русский
Português
Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Boxer Type
| Acronym: | ARVC |
| Gene: | STRN |
| Mutation: | g.32373915_32373922del8 |
| Inheritance: | Autosomal Incompletely Dominant |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic degenerative heart disease often found in Boxer dogs. It is a late-onset familial disease, affecting dogs mostly at the age of six years and because of that it may present a problem for breeders and boxer owners. The late-developing signs of disease include coughing, seizures , breathlessness , irregular heartbeats/ arrhythmias and congestive heart failure. Once the symptoms start to show, the disease starts to develop rapidly and often ends with sudden death. The cause of ARVC is a deletion in the striatin (STRN) gene which encodes a protein that contributes to normal cell-to-cell adhesion and mechanical stability of the heart muscle cells.
ARVC in Boxer dogs is inherited as an autosomal dominant trait with incomplete penetrance meaning not only dogs with two mutated genes can develop the disease, but also dogs carrying only one mutated gene. Even though in this case most of the heterozygotes are asymptomatic, there have been reported some cases of heterozygous dogs that develop this lethal disease. Early detection by genetic testing can identify affected dogs and help breeders in selecting mating pairs and preventing the future development of the disease.
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:
Cattanach, B. M., Dukes-McEwan, J., Wotton, P. R., Stephenson, H. M., & Hamilton, R. M. (2015). A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation. The Veterinary record, 176(19), 492. https://doi.org/10.1136/vr.102821
Meurs, K. M., Stern, J. A., Sisson, D. D., Kittleson, M. D., Cunningham, S. M., Ames, M. K., Atkins, C. E., DeFrancesco, T., Hodge, T. E., Keene, B. W., Reina Doreste, Y., Leuthy, M., Motsinger-Reif, A. A., & Tou, S. P. (2013). Association of dilated cardiomyopathy with the striatin mutation genotype in boxer dogs. Journal of veterinary internal medicine, 27(6), 1437–1440. https://doi.org/10.1111/jvim.12163