Catecholaminergic polymorphic ventricular tachycardia genetic testing

Genetic testing helps in the confirmation of the diagnosis of catecholaminergic polymorphic ventricular tachycardia. It allows the identification of mutations in up to 65% of patients with a clinical diagnosis of CPVT. There are HRS/EHRA Expert Consensus Recommendations for Genetic testing in Catecholaminergic polymorphic ventricular tachycardia.

• Genetic testing helps in the confirmation of the diagnosis of CPVT.
• Genetic screening allows the identification of mutations in up to 65% of patients with a clinical diagnosis of CPVT.
• Identification of heterozygous pathogenic variants in RYR2 or CALM1 or of biallelic pathogenic variants in CASQ2 or TRDN can also establish the diagnosis of CPVT.
• Recommendations for genetic testing are:^[1][2]
  1. Comprehensive or CPVT1 and CVPT2 (RYR2 and CASQ2) targeted CPVT genetic testing is recommended for any patient in whom a clinical index of suspicion for CPVT has been established based on examination of the patient’s clinical history, family history, and expressed electrocardiographic phenotype during exercise stress testing or catecholamine infusion.
  2. Mutation-specific genetic testing is recommended for family members and appropriate relatives following the identification of the CPVT-causative mutation in an index case. Those family members with identified mutations should be treated even in the absence of a positive exercise stress test.^[3]

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