Dilated Cardiomyopathy (DCM1)

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Dilated Cardiomyopathy (DCM1)

Description:

Dialted Cardiomyopathy (DCM) is a heart disease in which the heart becomes thin walled, dilated, and ceases to contract properly. This causes a backflow problem due to valves weakening so that the blood doesn't enter the heart normally, which results in congestive heart failure.

 

The left or right side heart can be affected in different ways. If the left side is affected by DCM the lungs will begin to fill with fluid (pulmonary edema). When the right side is affected fluid builds up in the body, affecting the chest cavity (pleural fluid), abdomen (ascities), or in the body tissue itself (edema).

 

Additionally, the heart will often have scar tissue or fatty build up which interferes with the conduction of nerve signals and causes uncoordinated contractions (dysrhythmia or arrhythmia). Forward and backward heart failure can arise from this. Forward heart failure occurs when the left ventricle doesn't provide enough blood flow to the body leading to collapse, fainting, weakness and sudden death. Backwards heart failure is when not enough blood enters the right atrium.

 

Not all affected breeds will be at risk to develop the DCM due to the fact that it shows incomplete penetrance (does not show sign of disease despite having a copy of the mutation).

 

The PDK4 gene is specifically associated with Doberman Pinschers, although this is only one of the genes associated with DCM1 in Dobermans. It is an autosomal dominant gene, meaning that only one copy of the mutation is needed to increase the risk of developing the disease.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at test now.

Test Is Relevant To the Following Breeds:

Doberman

Results:

Animal Genetics offers a DNA test to identify the mutated PDK4 gene associated with Dilated Cardiomyopathy (DCM1). The genetic test verifies the presence of the recessive DCM1 mutation and presents results as one of the following:

DCM/DCM At Risk The dog has inherited two copies of the mutated gene and is homozygous for the mutation. The dog is at risk to develop the disorder during its lifetime. The dog will always pass a copy of the mutation to its offspring.
n/DCM Carrier/Low Risk Both the normal and mutant copies of the gene detected. The chances that the dog will develop the disease are very low and could pass on either allele to any offspring.
n/n Clear Dog tested negative for the DCM mutation and will not pass on the defective gene to its offspring.