DCM in Welsh Springer Spaniels

The familial dilated cardiomyopathy (DCM) is a hereditary disease that affects animals across the animal kingdom. This disease is characterized by cardiomegaly (enlarged heart) and worsening of its function. Affected dogs may have heart failure or collapse due to heart arrhythmias.

This disease is caused by mutation in the phospholamban gene (PLN) that plays an important role in the regulation of intracellular calcium that is an important factor of contractions and relaxations of cardiac muscles and determines the correct heart function.

This disease in the population of Welsh Springer Spaniel is characterized by high penetration and high incidence of sudden death of affected dogs.

The clinical examination of the dogs with DCM revealed dilatation of left heart chamber (left ventrical), systolic dysfunction and arrythmia. The phenotypic signs of the disease occur at the age of around 20 months. The heart condition gets worse with the increasing age of the affected dog and the dogs die in the advanced stage of the disease.

In Welsh Springer Spaniels, a missense mutation c.26G>A in exon 1 of the PLN-gene have been discovered in connection with the dilated cardiomyopathy. The clinical symptoms occur in individuals that have a heterozygous genotype for this gene. The genetic penetration of this mutation may be influenced not only by genetic factors (inheritance), but also by environmental impacts and therefore the inheritance of the dilated cardiomyopathy in Welsh Springer Spaniels has not be clarified so far.

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Reference:

Yost, O., Friedenberg, S.G., Jesty, S.A., Olby, N.J., Meurs, K.M.: The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene 697:118-122, 2019. Pubmed reference: 30794913.