Dilated Cardiomyopathy 4 (DCM4)
Dilated Cardiomyopathy, DCM
Dilated Cardiomyopathy (DCM) causes the heart to dilate to increase output which prevents heart muscle cells from contracting normally. The dilation seen during disease progression leads to increased pressure within the heart and eventual heart failure. Almost half of dogs diagnosed with this disease do not survive beyond a few months. Although testing for the DCM4 mutation can be used as a guide for diagnosing the disease, it is recommended to use echocardiogram testing at 1 – 2 years along with a baseline Holter monitor test to confirm disease presence and progression. It is also recommended that dogs in breeding programs be physically tested every six months to determine disease status. Four mutations have been identified that are associated with dilated cardiomyopathy. The DCM4 mutation is associated with a higher risk of developing DCM and has a recessive inheritance pattern which means the dog must have two copies of the mutation to suffer from the disease. The DCM4 mutation is recommended for primary testing in European Dobermans and secondary testing in North American Dobermans following DCM1 and DCM2 testing. It is important to note that the DCM4 mutation is a risk-based test. This means that dogs that carry no copies of the DCM4 variant are still at risk for DCM due to the complex nature of the disease. Additionally, dogs that have two copies of the DCM4 mutation may not exhibit symptoms of the disease. Future research will hopefully locate and identify the actual causative mutation but in the meantime, the DCM4 mutation may provide information for breeding and healthcare decisions.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Dilated Cardiomyopathy due to the DCM4 mutation nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Dilated Cardiomyopathy due to the DCM4 mutation but will, if bred, pass the mutation to 50% of their offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Dilated Cardiomyopathy which can result in heart dilation and eventual heart failure.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
RNF207 abnormal expression
Chromosome
Ch. 5
Mutation
chr5:60,531,090: G>A
Publication:
Niskanen, J.E., Ohlsson, A., Ljungvall, I. et al. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human. Genome Med 15, 73 (2023). [PubMed: 37723491]