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Arrhythmogenic Right Ventricular Cardiomyopathy
Breed: Boxer
Generic Phene Data
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
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
German Shepherd Arrhythmia
Gene Name
unpublished
Mutation
c.*3063delCATACACA
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
144
GTP Breed
Boxer
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
ARVC
Gene Name
STRN
Mutation Comment
g.32373916_32373923del8
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
German Shepherd Arrhythmia
Gene Name
unpublished
Mutation
c.*3063delCATACACA
Nature of test
mutation test
FCI Number
144
GTP Breed
Boxer
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
German Shepherd Arrhythmia
Gene Name
unpublished
Mutation
c.*3063delCATACACA
Nature of test
mutation test
FCI Number
144
GTP Breed
Boxer
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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