Description: Dilated cardiomyopathy (DCM) is an inherited heart disorder. DCM is a primary myocardial disease that can lead to the development of congestive heart failure and sudden cardiac death. In affected dogs, the heart muscle is weak, and the ventricles are dilated with thin walls. These enlarged hearts have poor contractility and are prone to arrhythmias. Affected dogs show clinical signs of poor heart function between 1 and 8 years of age. Affected dogs develop clinical signs ranging from mild exercise intolerance to sudden death or congestive heart failure as they age. Symptoms of heart disease include exercise intolerance, fatigue, cough, difficulty breathing, rapid breathing, fainting, and sudden death. Affected dogs that do not die suddenly of arrhythmias usually die of congestive heart failure by around 7 years of age. The mutation shows incomplete penetrance, which means that there may be other genetic or environmental factors influencing the development of the disease.
Inheritance: autosomal dominant with incomplete penetrance
Mutation: chr36:22657035 (canFam3),: C/T, g.22321955 C/t in TTN gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Doberman
Notes: The second genetic mutation in Doberman Pinschers with DCM, has been identified (DCM- PDK4 gene).