Description:  Familial dilated cardiomyopathy is a primary myocardial disease that can lead to the development of congestive heart failure and sudden cardiac death. Doberman is one of the most commonly reported dog breeds with familial dilated cardiomyopathy. The disease is genetically heterogeneous. The mutation results in decreased PDK4 activity. The main role of this protein is to regulate energy metabolism in the heart muscle. In particular, it decreases the oxidation of glucose and thus ensures the oxidation of fatty acids that are more suitable for energy gain. The mutation shows incomplete penetration (68%), which means that there may be other genetic or environmental factors affecting the development of the disease.

Inheritance: autosomal dominant with incomplete penetrance

Mutation: 16 bp deletion in intron 10 of the PDK4 gene

Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.

The analysis is suitable for the following breeds: Doberman, Rhodesian ridgeback

Notes: The second genetic mutation in Doberman Pinschers with DCM, has been identified recently (NCSU/DCM2).