Common Symptoms
Cardiomyopathy and juvenile mortality is an inherited cause of early mortality in dogs. Puppies present as early as 6 weeks of age with variable clinical signs that may include tremors, gastrointestinal issues or difficulty breathing. A veterinarian may observe an enlarged heart and/or narrow trachea via an X-ray exam. Affected dogs have degenerative changes to the heart muscle likely from abnormal metabolism in the cells. Puppies with this condition die within 8 weeks of age from heart failure.
Testing Tips
Genetic testing of the YARS2 gene in dogs will reliably determine whether it is a genetic Carrier of Cardiomyopathy and Juvenile Mortality. This disease is inherited in an Autosomal Recessive manner. This means that dogs must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the YARS2 gene mutation. Reliable genetic testing is important for determining breeding practices. To eliminate this mutation from breeding lines and avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that do not carry the mutation are not at increased risk of having affected pups.
There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.
References
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Gurtner C, Hug P, Kleiter M, Köhler K, Dietschi E, Jagannathan V, Leeb T. YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality. Genes (Basel). 2020 Mar 14;11(3):313.
[PubMed: 32183361]
