Genetic testing for DCM in the Nova Scotia Duck Tolling Retriever

Dilated cardiomyopathy (DCM) is a disease of the heart muscle. Because the left ventricle (which is responsible for the main pumping action of the heart) is thickened, dilated and weakened in DCM, the heart cannot pump blood effectively through the body. An autosomal recessive variant in the LMNA gene associated with DCM has been found in the Nova Scotia Duck Tolling Retriever breed. The disease causes sudden, paroxysmal accelerated heart activity (paroxysmal ventricular tachycardia). There may also be signs of malformation (dysplasia) of the mitral valve (heart valve between the left atrium and the left ventricle) and tissue changes in the heart muscle (myocardial fibrosis). The age at which the disease occurs varies from case to case. Even at a young age (10-15 months), DCM can cause sudden death.