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Dilated Cardiomyopathy for Doberman Pinschers only, DCM2 risk variant

Dilated Cardiomyopathy (DCM) is a severe heart condition in which the heart walls become thin and weak, leading to heart enlargement and eventual heart failure due to a decreased pumping ability. To date, DCM2 has only been associated with DCM in American Doberman Pinschers. However, please note that the genetic markers included in this panel do not explain all occurrences of DCM in the breed, suggesting additional genetic factors may be involved.

Found in

5 in 10 dogs

in our testing

Key Signs

Heart enlargement, Weakened heart muscle contractions, Arrhythmia, Congestive heart failure, Sudden cardiac death

Age of Onset

3 to 7 yrs

Adult to mature onset

Inheritance

Autosomal Dominant

For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.

Likelihood of the Condition

Moderate likelihood

At risk dogs may show signs of this disease in their lifetime, although some will not develop the condition due to absence of additional risk factors.

What to Do

Here’s how to care for a dog with DCM2

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about DCM2

Dilated Cardiomyopathy is the second most common heart disease in dogs and is characterized by systolic dysfunction with left or biventricular dilation, normal to reduced wall thickness, and cardiomegaly (an enlarged heart). More specifically, DCM in the Doberman Pinscher is characterized by left ventricular systolic dysfunction and secondary left ventricular enlargement, typically presenting in middle to older aged dogs. These changes result in the heart’s diminished ability to serve as a pump, leading to cardiac failure. The symptoms of cardiac failure are exercise intolerance, persistent cough, breathing difficulties, and ascites (fluid accumulation within the abdomen causing swelling). DCM is also characterized by arrhythmias, such as ventricular premature complexes (VPCs), which can cause sudden cardiac death without any previous symptoms. Dilated cardiomyopathy is a progressive condition in Dobermans, and the life expectancy of affected dogs is often significantly reduced. Clinical research indicates males tend to show echocardiographic changes earlier in life while females are more likely to have VPCs as the only abnormality. Genetic research supports a possible association of the tested TTN variant, known as DCM2, and development of DCM in some family lines of American Dobermans. It is estimated that 50% of American Dobermans with one or two copies of this variant will develop DCM. And the estimation increases to 60% of American Dobermans who inherit one or two copies of both DCM1 and DCM2 risk variants. However, please note these variants are risk factors and some dogs with one or two copies of the variants will not go on to develop heart disease–indicating incomplete penetrance. Additionally, DCM1 and DCM2 are considered most relevant for American Dobermans at this time, and further research is needed to understand the clinical relevance of these risk variants in the global Doberman population. DCM is a complex disorder, and the tested variants do not explain all occurrences of DCM in Dobermans suggesting additional genetic factors may be involved.

Dogs that are at risk of developing DCM should be examined at least once yearly by a veterinary cardiologist. A full cardiac workup is recommended including chest radiographs (X-rays), an echocardiogram (heart ultrasound), and an electrocardiogram (ECG). Clinical signs may vary among affected dogs, and Holter monitoring can be used for asymptomatic dogs since arrhythmias can occur without other indications of disease. As there is no curative treatment, therapy should be optimized for the individual. Medical therapy may be implemented to improve the heart’s pumping ability, control heart rate, manage arrhythmias, and remove lung congestion if present. Owners should be instructed to reduce and avoid stress in affected dogs, as stress can exacerbate clinical signs. Unfortunately, DCM is a progressive condition and Dobermans tend to carry a worse prognosis than other breeds. The life expectancy of affected dogs is often significantly reduced. However, medical therapy may help improve quality of life and short-term prognosis in those who respond favorably.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

Four genetic risk factors for Dilated Cardiomyopathy in the Doberman Pinscher have been screened by this panel. The risk variants DCM1 and DCM2 have been associated with cardiomyopathy in American Doberman, but not European Doberman, and should therefore be considered for American Dobermans only. The risk variants DCM3 and DCM4 were identified in Dobermans within Germany and Finland, with further validation in samples from the Netherlands, Slovenia and Sweden. Thus, the variants are likely to be highly relevant for European Dobermans but currently of unknown relevance in other Doberman populations. However, this should not discourage using imported lines to maintain diversity. Where possible, it is advisable to breed away from risk variants using a gradual, measured strategy to maintain diversity within the breed. Subsequent generations should be genetically tested before choosing breeding pairs to responsibly manage the condition and gradually work towards decreasing its incidence. For breeding where DCM1 and DCM2 are primarily considered, mating pairs should be selected to avoid high risk genotype offspring and weight given to family lines that have low clinical expression of DCM. Highest risk genotypes are considered to be dogs with both DCM1 and DCM2 variants. Please visit our website for further resources and breeder advice. Additionally, please note that these four genetic variants do not explain all occurrences of DCM in the breed, suggesting additional genetic factors may be involved. Further research is needed to understand the clinical relevance of DCM3 and DCM4 risk variants in American and other Doberman populations.

Technical Details

Gene TTN
Variant C>T
Chromosome 36
Coordinate 22,321,955

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Meurs, K.M., Friedenberg, S.G., Kolb, J., Saripalli, C., Tonino, P., Woodruff, C.,… Granzier, H. (2019). A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. Human Genetics volume 138, pages515–524 View the article