Dilated Cardiomyopathy (DCM)

44.90 € inc. Vat


Acronyms: DCM
Gene: PDK4
Mutation: Deletion
Mode of inheritance: Autosomal dominant
Breeds: Doberman pinscher, Australian shepherd, biewer, Chinese crested, French bulldog, Jack Russell Terrier, Mexican Hairless Dog, Miniature American Shepher, Parson Russell Terrier, Xoloitzcuintli, Yorkshire Terrier

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SKU: CD064 Categories: , Tags: , , , , , ,

Product Description

Dilated Cardiomyopathy

Dilated cardiomyopathy is a primary myocardial disease that can result in the development of congestive heart failure and sudden cardiac death. In Doberman pinscher DCM is caused by a deletion in PDK4 gene that has an important regulatory role in cardiac energy metabolism. The penetrance of this deletion mutation in the population studied was approximately 68 %.

Note: Study was performed on American Doberman pinscher population, European population still has not been studied in details.


Meurs, K.M., Lahmers, S., Keene, B.W., White, S.N., Oyama, M.A., Mauceli, E., and Lindblad-Toh, K. (2012). A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher. Human Genetics 131, 1319–1325.

Owczarek-Lipska, M., Mausberg, T.-B., Stephenson, H., Dukes-Mcewan, J., Wess, G., and Leeb, T. (2013). A 16-bp deletion in the canine PDK4 gene is not associated with dilated cardiomyopathy in a European cohort of Doberman Pinschers. Animal Genetics 44, 239.

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