Store


Arrhythmogenic Right Ventricular Cardiomyopathy (Boxer Type)

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

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 , Mixed Breed,