Dilatative Kardiomyopathie (DCM)

Left ventricular dilation, poor systolic function, arrhythmia and sudden cardiac death are... more
Disease
Dilated cardiomyopathy is a disease of the heart muscle. Due to the disease, the left ventricle (the heart’s main pumping chamber) is enlarged, dilated and weak, so that the heart is not able to pump the blood effectively.

In the breed Welsh Springer Spaniel, a genetic variant of the phospholamban gene has been found to be associated with DCM. Phospholamban plays an important role in regulating the intracellular calcium concentration and therefore the cardiac contraction and relaxation. Left ventricular dilation, poor systolic function, arrhythmia and sudden cardiac death are typical symptoms of affected dogs. Usually, the symptoms become visible until the age of 20 months. The disease is inherited in an autosomal dominant manner with variable penetrance. Compared to other canine cardiac diseases, the dilated cardiomyopathy in the Welsh Springer Spaniel has a high penetrance. This means, that almost every dog carrying the variant shows symptoms at the relevant age.
Breed
Welsh Springer Spaniel
Heredity
autosomal dominant, variable penetrance
Test duration
1-2 weeks after arrival of the sample in the lab
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