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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in Boxers

We can test for two different genetic mutations associated with ARVC

Boxer ARVC (also called Boxer Cardiomyopathy) is a hereditary disease with adult onset. The disease affects the heart muscle and can result in sudden death or the development of congestive heart failure. The average age at onset of clinical symptoms and/or abnormal Holter monitor results is about six years old. However, some dogs may show signs earlier and others later in life.

Currently, two mutations have been identified that are associated with the development of ARVC, which are offered through our ARVC1 (STRN), ARVC2 (FOS), and ARVC combo test. Our results in boxers suggest that additional genes may be associated with disease development and severity, which we hope to have a better understanding of in the future.

ARVC is a disease of incomplete penetrance. Some boxers with the genetic mutation may not show the disease until they get older, and some individuals with the mutation may never show the disease. In addition, a boxer that is negative for these mutations may still develop ARVC. However, results from our genetic tests can be beneficial in guiding breeding practices and potential therapeutic measures.

Testing Prices:

Boxer ARVC1 = $48.00 per dog

Boxer ARVC2 = $48.00 per dog

Boxer ARVC Combo (ARVC1 and ARVC2) = $70.00 per dog

Boxer Litter Discount = $38.00/$60.00 per puppy

Sample Type for Submission:

Acceptable samples include a cheek swab or 1-2 mL whole blood collected in an EDTA tube. If these sample types are unavailable, please reach out to us at cvm-cardiacgenetics@ncsu.edu for more information. Alternative sample types may result in an additional charge.

Holter Monitoring:

ARVC is a disease that primarily affects the electrical system of the heart, so the best way to test for it is a 24 hour Holter monitor. Since the disease is adult-onset and can start at varying ages, we recommend that Holtering be started at three years of age and repeated annually. Holter monitors for Boxers can be requested in combination with our genetic test or on its own without the genetic test. In addition, your veterinarian can request a diagnostic holter with our service which will provide interpretation from a veterinary cardiologist. For more information regarding holter monitoring, and directions on how to request this service, please visit – here

Explanation of Results:

Two copies of each gene are inherited, one from each parent. Possible results include:

Negative

Dogs have two copies of the normal gene, which is not predicted to be at an increased risk of ARVC. They cannot transmit this mutation to their offspring.

Positive Heterozygous

Dogs have one copy of the normal gene and one copy of the mutated gene, which is associated with an increased risk of developing ARVC.

Positive Homozygous

Dogs have two copies of the mutated gene, which is associated with an increased risk of developing ARVC. Dogs that are positive homozygous appear to have more significant disease and should be carefully monitored for symptoms of disease. They will transmit one copy of the mutation to their offspring.

Research is ongoing to determine the risk of disease development for a positive ARVC1 results versus a positive ARVC2 result. However, dogs that are positive for both ARVC1 and ARVC2 are at a higher risk of developing ARVC and should be carefully monitored by your veterinarian for signs of disease.

Other factors could contribute to this condition in dogs, and a negative result does not rule out the presence of a different mutation that could cause a similar genetic disorder or trait.