Applied Clinical Genetics Case Library
Case 7

Signalment
  • 6-year-old 
  • Neutered male 
  • Doberman pinscher
History & Presenting Complaint
  • Gastropexy at time of neuter
  • Baseline ECG desired in light of Embark genetics report
Physical Exam
  • Temp: 101.5 F; Pulse: 70 bpm; Respiration: 25/min; MM: pink/moist CRT: 2 sec; BCS: 5/9; Eyes: wnl; Ears: wnl; Mouth: wnl; LN’s: wnl; Cardio: wnl; Resp: wnl; Abd: wnl; GI: wnl; MS: wnl; CNS: wnl; Weight: 90 lbs (41 kg)
  • Echocardiogram
    • Left ventricular diastolic dimension: 5.0 cm (≤ 4.6 is normal)
    • Systolic dimension: 3.9 cm (≤3.8 cm is normal)
  • ECG (Secondary option)
  • Occult DCM at six years of age by echocardiogram.
  • Heart (pimobendan: 0.25-0.3 mg/kg PO q12h)
  • Additional supplements the owner researched. 
  • Echo every six months, Holter monitoring every three months.
Outcome
  • Because of genetic testing, this dog’s owners were able to take preemptive action to reduce the effects of DCM. His condition has not progressed, and he is currently 11 years old.
  • While the statistics have not been published, Dr. Kate Meurs at NC State quotes 37% of Dobermans with the DCM1 (PDK4) mutation will develop disease, 50% with the DCM2 (TTN) mutation will develop disease, and 60% with the DCM1 and DCM2 mutations will go on to develop disease. These statistics correlate more to disease in American lines of Dobermans than European lines of Dobermans (European dogs have a lower rate of clinical disease). Additionally, while present in other breeds of dogs, the variants do not seem to be clinically correlated to heart disease in breeds other than Dobermans, and even Doberman mixes appear to have a lower risk from the variant(s). Dogs with at least one copy of each variant are 30x more likely to develop DCM than dogs with zero copies of each variant (fully clear dogs).

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