| 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, 142, 143, 144, 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, 147, 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, 142, 143, 144, 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 |