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letter
. 2022 May 31;38(4):491–553. doi: 10.1002/joa3.12717
Disease Diagnostic Prognostic Therapeutic
CPVT +++ + +
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 JOA3-38-491-g003.jpg 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. graphic file with name JOA3-38-491-g008.jpg 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. graphic file with name JOA3-38-491-g008.jpg 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. graphic file with name JOA3-38-491-g003.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 JOA3-38-491-g003.jpg Expert opinion