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Arrhythmogenic Right Ventricular Cardiomyopathy (RESEARCH)
Test Overview:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial cardiac disease characterized by ventricular arrhythmias and sudden cardiac death. It is most frequently inherited as an autosomal dominant trait with incomplete and age-related penetrance and variable clinical expression.
Category:
Cardiovascular - Associated with the heart and blood vessels
Gene:
Striatin (STRN) on chromosome 17
Variant Detected:
Nucleotide deletion chr17:29269446-29272662 deletion CATACACA (canFam3) 3’Untranslated region of the STRN gene
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Dominant with Incomplete Penetrance
Research Citation(s):
Meurs KM et al. Genome-wide association identifies a deletion in the 30 untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. (2010), Hum Genet, 128, 315–324.
Associated Breed(s):
Boxer ,
