Small Animal Review: December 2020

Dilated cardiomyopathy in Dobermanns may be associated with a genetic variant in both the PDK4 gene (mitochondrial energy production) and the TTN gene (cardiac contraction), although some cases do not have either of these, suggesting other genetic causes. Although these genes are recognised, their importance in the general population is unknown. Meurset al (2020) report on 48 Dobermanns, of which 28 had the TTN variant only, 10 had both variants, 6 had neither variant, and 4 had the PDK4 variant only. Dogs with the PDK4 variant presented at a mean age of 38 months, dogs with the TTN variant at 77 months, those with both variants at 93 months and those with neither variant at 97 months. However, there was overlap across all groups and due to small case numbers could not attribute any significance to this data. There were no specific clinical, radiographic, echocardiographic or electrocardiographic findings identified in the genotype groups. The authors were unable to assess the impact of the genetic variations on disease severity or progression. In humans, multiple genetic variations are associated with cardiac disease and there are undefined variations in dogs. The role they play in contributing to the clinical course will be elucidated by larger prospective studies.