Applied Clinical Genetics Case Library
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)
What diagnostics would you perform?
- 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)
What is your assessment?
- Occult DCM at six years of age by echocardiogram.
What is your plan?
- 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.
Learn More: Polygenic Risk
- 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).
References/Additional Resources
- Meurs KM, Stern JA, Adin D, Keene BW, De Francesco TC, Tou SP. Assessment of PDK4 and TTN gene variants in 48 Doberman Pinschers with dilated cardiomyopathy. J Am Vet Med Assoc. 2020 Nov 15;257(10):1041-1044. doi: 10.2460/javma.2020.257.10.1041. PMID: 33135971.
- https://www.purinaproclub.com/resources/dog-articles/health/alternative-treatments-studied-for-dobermans-with-dilated-cardiomyopathy
- https://www.uvsonline.com/dilated-cardiomyopathy-dcm/
- https://www.drugs.com/vet/thyro-tabs.html#:~:text=Dosages%3A%20The%20initial%20recommended%20daily,10%20lb%20(4.5%20kg)
- https://vcahospitals.com/know-your-pet/dilated-cardiomyopathy-dcm-in-dogs–indepth
- https://www.vin.com/apputil/content/defaultadv1.aspx?meta=&pId=11149&id=3846592
* Embark is not necessarily affiliated with any of these websites or references, and does not necessarily endorse their content.