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Dilated Cardiomyopathy Welsh Springer Spaniel Type
| Acronym: | DCM-WSS |
| Gene: | PLN |
| Mutation: | c.26G>A |
| Inheritance: | Autosomal dominant with variable penetrance |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dilated Cardiomyopathy (DCM) is one of the most common forms of cardiomyopathy, a larger group of heart muscle diseases that affect the ability of the heart to pump blood around the body. Cardiomyopathy is not found only in humans but also in various types of animals including dogs and it can have a genetic cause, meaning a specific mutation occured and is passed to the offspring. DCM is characterized by cardiac enlargement and decreased myocardial function with a high incidence of sudden death. Affected dogs suffer from ventricular dilation, decreased systolic function, and ventricular arrhythmias leading to an enlarged heart that can no longer pump efficiently, resulting in heart failure. Causative mutations for dilated cardiomyopathy found in Welsh Springer Spaniel dogs have been identified in the phospholamban (PLN) gene. Phospholamban plays a critical role in regulating intracellular calcium, a factor in both cardiac relaxation and contraction.
This type of genetic heart disease is inherited as an autosomal dominant trait meaning Welsh Springer Spaniel dogs with only one mutated copy of the gene will develop the disease, not only those with two mutated genes. Dogs with only one mutated gene may develop a milder form of the disease, but since the environment has a great impact on the development of the disease too, those cases may end fatally as well. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding by proper selection of mating pairs.
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:
Yost, O., Friedenberg, S. G., Jesty, S. A., Olby, N. J., Meurs, K. M. (2019). The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene, 697, 118–122. https://doi.org/10.1016/j.gene.2019.02.022
Gaar-Humphreys, K. R., Spanjersberg, T., Santarelli, G., Grinwis, G., Szatmári, V., Roelen, B., Vink, A., van Tintelen, J. P., Asselbergs, F. W., Fieten, H., Harakalova, M., van Steenbeek, F. G. (2022). Genetic Basis of Dilated Cardiomyopathy in Dogs and Its Potential as a Bidirectional Model. Animals : an open access journal from MDPI, 12(13), 1679. https://doi.org/10.3390/ani12131679