Gene variants found in Doberman Pinschers with dilated cardiomyopathy

Abstract

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 ofandgenetic variants. Dogs were grouped on the basis of whether they had thevariant 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 thevariant alone, 10 had both variants, 6 had neither variant, and 4 had thevariant alone. The mean age was younger for dogs with thevariant alone, compared with other dogs. However, the number of dogs with thevariant 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 thevariant 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.