Dilatation cardiomyopathy (CLAM / DCM) in Nova Scotia Duck Tolling Retriever

Dilated cardiomyopathy is a serious heart muscle disease that causes the heart chambers (ventricles) to thin and stretch, growing larger (dilate) and heart muscle weakening, leading to impaired ability of the heart to pump blood. It is manifested by fatigue, weakness and shortness of breath and usually ends in death in young individuals. Sometimes sudden death can occur without any previous signs of disease.

The disease is caused by mutation c.1726del in the LMNA gene, which codes for the protein lamin A/C.

The mode of inheritance of the mutation is probably autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Bannasch, D.L., Oertle, D.T., Vo, J., Batcher, K.L., Stern, J.A., Kaplan, J.L., Li, R.H.L., Madden, I.E., Christen, M., Leeb, T., Joshi, N. : Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever. Sci Rep 13:19077, 2023. Pubmed reference: 37925523