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Cardiomyopathy and Juvenile Mortality (Belgian Shepherd)

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Test Overview:

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.

Category:

Cardiorespiratory (Associated with Heart and Lungs)

Gene:

YARS2, chr13

Variant Detected:

chr27:30417127 (canFam4): C/T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

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]

Associated Breed(s):

Belgian Groenendael Shepherd, Belgian Lakenois Shepherd, Belgian Malinois Shepherd, Belgian Tervueren Shepherd , Mixed Breed,

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