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. 2022 Apr 4;24(8):1307–1367. doi: 10.1093/europace/euac030
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. graphic file with name euac030ilf1.jpg 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. graphic file with name euac030ilf2.jpg 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. graphic file with name euac030ilf2.jpg 17, 91, 141–145
Variant-specific genetic testing is recommended for family members and appropriate relatives following the identification of the disease-causative variant. graphic file with name euac030ilf1.jpg 149, 150
Predictive genetic testing in related children at risk of inheriting a P/LP variant is recommended from birth onward (any age). graphic file with name euac030ilf1.jpg Expert opinion
a

Adapted from HRS/EHRA/APHRS Expert consensus recommendations on diagnosis of CPVT.15

b

Adapted from Giudicessi et al.,151 see Supplementary material online, Table S4.