Assessment of and gene variants in 48 Doberman Pinschers with dilated cardiomyopathy.

Objective: To evaluate the frequency of variants in the pyruvate kinase dehydrogenase 4 () and titin () genes in a group of Doberman Pinschers with dilated cardiomyopathy (DCM) and to determine whether there were unique clinical attributes to each variant.

Animals: 48 Doberman Pinschers with DCM.

Procedures: Doberman Pinschers with recently diagnosed DCM were identified, and genomic DNA from each was genotyped with a PCR assay for detection of and genetic variants. Dogs were grouped on the basis of whether they had the variant alone, variant alone, both variants, or neither variant. Descriptive statistics were compiled for dog age, body weight, and left ventricular dimensions and fractional shortening and for the presence of ventricular and supraventricular arrhythmias and heart failure. Results were compared across groups.

Results: Of the 48 dogs, 28 had the variant alone, 10 had both variants, 6 had neither variant, and 4 had the variant alone. The mean age was younger for dogs with the variant alone, compared with other dogs. However, the number of dogs with the variant alone was very small, and there was an overlap in age across groups. No other meaningful differences were detected across groups, and independent genotype-phenotype relationships were not identified.

Conclusions And Clinical Relevance: Although findings indicated that the variant was most common, 6 dogs had neither variant, and this fact supported the concept of ≥ 1 other genetic contributor to DCM in Doberman Pinschers. Future studies are warranted to evaluate genotype-phenotype relationships in Doberman Pinschers with DCM.