Assessment of PDK4 and TTN gene variants in 48 Doberman Pinschers with dilated cardiomyopathy

Kathryn M. Meurs, Joshua A. Stern, Darcy Adin, Bruce W. Keene, Theresa C. DeFrancesco, Sandra P. Tou

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


OBJECTIVE To evaluate the frequency of variants in the pyruvate kinase dehydrogenase 4 (PDK4) and titin (TTN) 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 PDK4 and TTN genetic variants. Dogs were grouped on the basis of whether they had the TTN variant alone, PDK4 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 TTN variant alone, 10 had both variants, 6 had neither variant, and 4 had the PDK4 variant alone. The mean age was younger for dogs with the PDK4 variant alone, compared with other dogs. However, the number of dogs with the PDK4 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 TTN 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.

Original languageEnglish (US)
Pages (from-to)1041-1044
Number of pages4
JournalJournal of the American Veterinary Medical Association
Issue number10
StatePublished - Nov 15 2020

ASJC Scopus subject areas

  • veterinary(all)


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