| Recommendation | Consensus statement instruction | Ref. |
|---|---|---|
| In any patient satisfying the diagnostic criteria for CPVT (such as Class 1 clinical diagnosisa or CPVT diagnostic score >3.5b), molecular genetic testing is recommended for the currently established definite/strong evidence CPVT-susceptibility genes: RYR2, CASQ2, CALM1-3, TRDN, and TECRL. |
|
91, 141–145 |
| In phenotype-positive CPVT patients (definition: see rec. 1) who are negative for those established CPVT-susceptibility genes, genetic testing may be considered for CPVT phenocopies resulting from pathogenic variants in the KCNJ2, SCN5A, and PKP2 genes. |
|
17, 146–148 |
| In patients with a modest phenotype for CPVT (i.e. CPVT diagnostic score ≥ 2 but < 3.5b), genetic testing may be considered for the established definite/strong evidence CPVT-susceptibility genes: RYR2, CASQ2, CALM1-3, TRDN, and TECRL. |
|
17, 91, 141–145 |
| Variant-specific genetic testing is recommended for family members and appropriate relatives following the identification of the disease-causative variant. |
|
149, 150 |
| Predictive genetic testing in related children at risk of inheriting a P/LP variant is recommended from birth onward (any age). |
|
Expert opinion |
Adapted from HRS/EHRA/APHRS Expert consensus recommendations on diagnosis of CPVT.15
Adapted from Giudicessi et al.,151 see Supplementary material online, Table S4.