Dilated Cardiomyopathy, DCM1

Heart

DCM is the most common acquired heart disease of adult dogs. The heart has two heavily muscled ventricles that pump blood away from the heart. This disease causes progressive weakening of the ventricles by reducing the muscle mass, which causes the ventricles to dilate. Dilated ventricles do not contract and circulate oxygenated blood well, which eventually leads to heart failure.

  • Signs and symptoms

    In the early stages of DCM, you will likely not notice any changes in your dog. DCM typically presents at the end stages of the disease, when the heart is failing. Signs include weakness, cold toes and ears, blue-grey gums and tongue, and respiratory distress. If you see these signs, take your dog immediately to an emergency veterinarian!

    This disease can rarely be seen in puppies and young adults. It is typically seen in middle aged to older dogs.

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  • Diagnosis

    The earlier a diagnosis can be reached, the better the outcome. If you are concerned about your dog’s heart, discuss it with your veterinarian who can run basic preliminary tests. They may recommend a visit to a veterinary cardiologist for a complete evaluation, including an ultrasound of the heart (echocardiogram).

  • Treatment

    Treatment is completely dependent on how advanced the disease is at the time of diagnosis. It can range from monitoring the patient periodically to intensive hospitalization at specialty veterinary practices.

  • What to do if your dog is at risk

    Actions

    • The cause of this disease is multifactorial and not completely understood. Genetics, nutrition, infections and environmental exposures can all play a role in the development of DCM. In fact, DCM has recently been featured extensively in the news due to suspected nutritional deficiencies in some grain free diets.
    • Annual echocardiograms by a board certified cardiologist and annual Holter monitoring are the best ways to diagnose DCM early.

  • Genetic Information

    This mutation was first identified in the Doberman Pinscher.

    Important note about the PDK4 mutation (also known as DCM1): The vast majority of research exploring the genetics of DCM has been performed on purebred American Dobermans, a high risk population for DCM. Even in the Doberman, DCM1 is incompletely penetrant, meaning that while having one or two copies of this mutation is thought to confer some increased risk of developing DCM, it is by no means predictive of disease. DCM is a highly complex disease that is modulated by many genetic factors, most unknown.

    In addition, Embark and others have identified this mutation in multiple breeds, including breeds where DCM is not a common disease. The impact of this mutation in these breeds is unknown: Embark hopes to change this. If you have recently had your dog's heart evaluated by your veterinarian, please email us at askthevets@embarkvet.com.

    Gene names:

    PDK4 ‐ chr14

    Inheritance type:

    dominant

  • Breeds affected

    This health condition affects the following breeds

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