Catecholaminergic Polymorphic Ventricular Tachycardia
|ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN|
|Lab method:||NGS panel with CNV analysis|
|Specimen requirements:||2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
|Ordering information:||Go to online ordering or download sample submission form|
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis
3. Carrier testing for at-risk family members
4. Predictive testing
5. Testing patients with unexplained cardiac arrest
6. Prenatal testing and preimplantation genetic diagnosis
7. Genetic counseling
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease that can cause syncope during exercise or acute emotion. Some individuals may also experience palpitations and dizziness. Symptoms are caused by fast ventricular tachycardia. The mean age of onset of symptoms is between age seven and twelve years.
Spontaneous recovery may occur when these arrhythmias self-terminate. Ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death. Sudden death during exercise or while experiencing acute emotions may be the first manifestation of the disorder in previously asymptomatic individuals.
The estimated prevalence of CPVT is 1:10,000.
CPVT is most commonly inherited in an autosomal dominant pattern. CASQ2-related CPVT and TDRN-related CPVT are autosomal recessive.
Napolitano C et al 2013. Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). European Journal of Human Genetics volume 22, page152(2014).
Napolitano C et al 2004. Catecholaminergic Polymorphic Ventricular Tachycardia. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020. 2004 Oct 14 [updated 2016 Oct 13].
Priori et al 2002. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69–74.