Dilated Cardiomyopathy (DCM) is a hereditary disease known in animals and humans with many similarities including familial nature, clinical signs and phenotypic features. It is characterised by cardiac enlargement (cardiomegaly) and decreased myocardial function. Due to heart arrhythmias affected individuals suffer from heart failure or collapse. The symptoms in dogs usually occur 20 months postnatal and include ventricular dilation, systolic dysfunction, ventricular arrhythmias, myofiber loss, interstitial oedema, mild interstitial fibrosis and mild lymphocytic infiltration. Mentioned disease is well-described in Welsh Springer Spaniel and has a high incidence to result in sudden death due to R9H mutation. With the right medical care and treatment affected dog can live a longer life.

Inheritance: autosomal dominant, variable penetrance

Mutation: PLN gene

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

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