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Arrhythmogenic Right Ventricular Cardiomyopathy

Breed: Yugoslavian shepherd dog/ Sharplanina

Breeds

Relevance Rating: There is moderate evidence or research available in this breed

General

Disease Name
Arrhythmogenic Right Ventricular Cardiomyopathy
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.
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