Dilated cardiomyopathy (DCM)

General description

Dilated cardiomyopathy is a disease of the heart muscle. Due to the disease, the left ventricle (the heart‘s main pumping chamber) is enlarged, dilated and weak, so that the heart is not able to pump the blood effectively. In the breed Welsh Springer Spaniel, a genetic variant of the phospholamban gene has been found to be associated with DCM. Usually, the symptoms become visible until the age of 20 months. In the breeds Manchester Terrier and English Toy Terrier, a genetic variant in the cardiac ATP-sensitive potassium channel gene ABCC9 gene was found to be associated with DCM, which can lead to sudden death. This happens before the age of 2 years, typically around 6 months. The dogs appear healthy prior to sudden death. In the breed Nova Scotia Duck Tolling Retriever, an autosomal recessive variant in the LMNA gene was found to be associated with DCM. The age of onset slightly differs between cases and DCM can lead to sudden death at a young age (10-15 months).

Breeds

English Toy Terrier, Manchester Terrier, Nova Scotia Duck Tolling Retriever, Welsh Springer Spaniel

Order details
Test number8764
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexcardiologisch
Inheritanceautosomal dominant with incomplete penetrance
CausalityHigh-risk factor
GeneTitin
LiteratureOMIA:000162-9615
Detailed description

Dilated cardiomyopathy is a disease of the heart muscle. Due to the disease, the left ventricle (the heart‘s main pumping chamber) is enlarged, dilated and weak, so that the heart is not able to pump the blood effectively.


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