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Arrhythmogenic Right Ventricular Cardiomyopathy
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Arrhythmogenic Right Ventricular Cardiomyopathy
OMIA
878
Gene Name
STRN
Mutation
c.*3063delCATACACA
Test Type
Genetic Disease/Disorder
Details
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by arrhythmias, and sudden cardiac death. Because the presenting sign can be sudden death, many dogs die without a diagnosis. The mode of inheritance appears to be multivariate, or possibly autosomal dominant with low incomplete penetrance. Expert advice on using test results for breeding decisions recommended. Tests not considered diagnostic at this time.
Details 2
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by arrhythmias, and sudden cardiac death. Because the presenting sign can be sudden death, many dogs die without a diagnosis. The mode of inheritance appears to be multivariate, or possibly autosomal dominant with low incomplete penetrance. An associated mutation was identified in STRN.
Published
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 128:315-24, 2010. Pubmed reference: 20596727. DOI: 10.1007/s00439-010-0855-y.
Published 2
Meurs, K.M., Stern, J.A., Sisson, D.D., Kittleson, M.D., Cunningham, S.M., Ames, M.K., Atkins, C.E., DeFrancesco, T., Hodge, T.E., Keene, B.W., Reina Doreste, Y., Leuthy, M., Motsinger-Reif, A.A., Tou, S.P. : Association of dilated cardiomyopathy with the striatin mutation genotype in boxer dogs. J Vet Intern Med 27:1437-40, 2013. Pubmed reference: 24033487. DOI: 10.1111/jvim.12163.
Published 3
Sargan, D. : Inherited disease in boxer dogs: a cautionary tale for molecular geneticists. Vet Rec 176:490-1, 2015. Pubmed reference: 25953873. DOI: 10.1136/vr.h2371.
Published 4
Cattanach, B.M., Dukes-McEwan, J., Wotton, P.R., Stephenson, H.M., Hamilton, R.M. : A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation. Vet Rec 176:492, 2015. Pubmed reference: 25661582. DOI: 10.1136/vr.102821.
Body/System/Process
Cardiovascular
OMIA Url
Inheritance
Multifactorial
Breed Specific Info
Researched Breeds
Boxer
