Cardiomyopathy, Arrhythmic Right Ventricular (ARVC)

 

Gene: STRN

Transmission: Autosomal, dominant, variable penetration (complex genetics, multifactorial)

For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease.  Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation.  One or both of the parents of an animal with the mutation has one or two copies of the mutation.  Animals that have one or two copies of the mutation can pass the mutation on to future generations.

Mutation: Deletion, STRN gene; c.*3063 del.8bp, exon16

Medical system: Cardiac

Breeds: Boxer

Age of onset of symptoms: Variable

ARVC is a degenerative genetic disorder of the myocardium specific to the Boxer breed. Unlike the dilated cardiomyopathy seen in other dog breeds, ARVC is characterized by an absence of dilation of the ventricles of the heart and by the presence of ventricular arrhythmias. This disease can occur in different ways and at different levels of severity depending on the individual: some affected dogs will not present clinical signs, others will have mild clinical symptoms and will be intolerant to exercise (with or without fainting); others will be severely affected with congestive heart failure.  Some individuals live several years without presenting clinical signs.  Male dogs are more often affected than female dogs.

 

References:

OMIA link: [0878-9615]

Aherne, M. (2023) Cardiac disease and screening in breeding dogs. Vet Clin North Am Small Anim Pract 53(5):985-1012.  [pubmed/37353418]

Shen L, Estrada AH, Meurs KM, et al. (2022) A review of the underlying genetics and emerging therapies for canine cardiomyopathies. J Vet Cardiol 40:2-14. [pubmed/34147413]

Cattanach BM, Dukes-McEwan J, Wotton PR, et al. (2015) A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation. Vet Rec. 176(19):492-497. [pubmed/25661582]

Sargan D. (2015) Inherited disease in boxer dogs: a cautionary tale for molecular geneticists. Vet Rec. 176(19):489-491. [pubmed/25953873]

Meurs KM, Stern JA, Sisson DD, et al. (2013) Association of dilated cardiomyopathy with the striatin mutation genotype in boxer dogs. J Vet Intern Med. 27(6):1437-40. [pubmed/24033487]

Meurs KM, Mauceli E, Lahmers S, et al. (2010) Genome wide association identifies a deletion in the 3’ untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. Human Genetics 128(3) :315-324. [pubmed/20596727]