Arrhythmogenic Right Ventricular Cardiomyopathy (Boxer Type) Overview
Arrhythmogenic Right Ventricular Cardiomyopathy (Boxer Type)
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Category: Cardiorespiratory (Associated with Heart and Lungs)
Gene: Striatin (STRN) on chromosome 17
Variant Detected: Nucleotide deletion chr17:29269446-29272662 deletion CATACACA (canFam3) 3’Untranslated region of the STRN gene
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Dominant with Incomplete Penetrance
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.
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 , Mixed Breed,