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Dilated Cardiomyopathy (Doberman Pinscher Type Risk Factor, Variant 1)

Dilated Cardiomyopathy (DCM1) (Doberman Pinscher Type Risk Factor, Variant 1) is an inherited cardiac disorder characterized by an enlarged, poorly contracting heart and a risk of sudden death, specific to Doberman Pinschers.

Affected Genes: PDK4

Inheritance: Autosomal Dominant With Incomplete Penetrance

Variant(canFam6):
chr14:20388586

Breed: Doberman Pinscher

General Information: Dilated Cardiomyopathy, Variant 1 (DCM1) in Doberman Pinschers involves the weakening of the heart's muscular walls and an enlargement of its chambers, leading to decreased efficiency in blood pumping. This condition manifests between 1 to 8 years of age and progresses with the dog's age. Symptoms can range from mild, such as reduced exercise tolerance, to severe, including coughing, difficulty breathing, fainting, and potentially sudden death from cardiac arrhythmias. Congestive heart failure is a common outcome, typically resulting in death around 7 years of age if not managed. Environmental factors along with genetic predispositions contribute to the variability of the onset and severity of the disease.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the PDK4 gene mutation offers insights into whether a Doberman Pinscher may carry the genetic risk factor associated with Dilated Cardiomyopathy (DCM1) (Doberman Pinscher Type Risk Factor, Variant 1). This particular form of DCM is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene can significantly increase the risk of developing the disease. Puppies from an affected parent have a 50% chance of inheriting the mutation. Due to the incomplete penetrance of the mutation, not all dogs with the mutation will develop DCM, making regular cardiac examinations crucial. It is recommended not to breed Doberman Pinschers that are known to carry the mutation to prevent propagating the disease. While the mutation has been identified in other breeds, there is no established correlation between the mutation and DCM outside of Doberman Pinschers, so decisions should not be based solely on genetic status in these cases. Regular health screenings and consultations with a veterinary cardiologist are advised for all dogs, but especially for those carrying the PDK4 mutation, to guide breeding and health management decisions.

References:
Meurs KM, Lahmers S, Keene BW, White SN, Oyama MA, Mauceli E, Lindblad-Toh K. A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher. Hum Genet. 2012 131(8):1319-1325.

Owczarek-Lipska M, Mausberg TB, Stephenson H, Dukes-McEwan J, Wess G, Leeb T. A 16-bp deletion in the canine PDK4 gene is not associated with dilated cardiomyopathy in a European cohort of Doberman Pinschers. Anim Genet. 2013 44(2):239.