Familial dilated cardiomyopathy is a primary myocardial disease that can result in the development of congestive heart failure and sudden cardiac death. Doberman pinscher dog is one of the most commonly reported canine breeds with familial dilated cardiomyopathy. The disease is genetically heterogeneous and is inherited in an autosomal dominant manner. Recently Meurs et. al reported a mutation strongly associated with the development of dilated cardiomyopathy in Doberman pinschers. Mutation shows incomplete penetrance (68%) which means that there may be other genetic or environmental factors affecting development of the disease.

Inheritance: autosomal dominant with incomplete penetrance

Mutation: PDK4 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.