The Ryanodine receptor 2 mutations are linked to an inherited genetic disorder functioning in the myocardium.
RyR2 is primarily expressed in myocardium (heart muscle) Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited genetic disorder that predisposes those affected to potentially life-threatening abnormal heart rhythms or arrhythmias. 
