Disease overview

Arrhythomogenic right ventricular cardiomyopathy (ARVC) is an adult onset heart muscle disease that is most commonly diagnosed in Boxers. As a result, it is often called Boxer cardiomyopathy. ARVC can be caused by Striatin (STRN) gene mutation, which results in heart muscle death, eventual arrhythmias, and abnormal heart function.

Gene name

STRN

Inheritance

Autosomal dominant with incomplete penetrance

Signs and symptoms

Affected dogs may present with exercise intolerance, lethargy, and breathing difficulties. They may have abdominal distension if heart disease has progressed or experience syncope (sudden loss of consciousness).

How is it diagnosed

ARVC diagnosis is a process of exclusion. A veterinarian will conduct a thorough physical exam that focuses on the heart, as well as a review of health history and any clinical signs. Further diagnostics, such as electrocardiography (ECG/EKG) to detect ventricular arrhythmias or a 24-hour Holter, which is a continuous test to record the heart's rate and rhythm, may be performed. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Meurs KM, Mauceli E, Lahmers S, Acland GM, White SN, Lindblad-Toh K. Genome-wide association identifies a deletion in the 3' untranslated region of striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. Hum Genet. 2010 Sep;128(3):315-24. doi: 10.1007/s00439-010-0855-y. Epub 2010 Jul 2. PMID: 20596727; PMCID: PMC2962869.

Cattanach BM, Dukes-McEwan J, Wotton PR, Stephenson HM, Hamilton RM. A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation. Vet Rec. 2015 May 9;176(19):492. doi: 10.1136/vr.102821. Epub 2015 Feb 6. PMID: 25661582; PMCID: PMC4433500.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.