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.

References:

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.