Dilated Cardiomyopathy, DCM2

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.

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 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.

Talk to your vet about your dog’s dilated cardiomyopathy result so you can plan ongoing monitoring and care.

Annual echocardiograms and Holter monitoring can help detect early heart changes before symptoms appear.

Watch for signs such as fatigue, coughing, or difficulty breathing, and contact your vet if you notice any of these.

If diagnosed with DCM, avoid strenuous exercise or sudden bursts of activity, and maintain a calm, consistent routine to help reduce strain on your dog’s heart.

This mutation was first identified in the Doberman Pinscher.

Penetrance: Important note about the TTN mutation (also known as DCM2): 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, DCM2 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

TTN

Inheritance type

dominant

Clinical category

Cardiac

Citations

1. Meurs et al 2019

• Doberman Pinscher