Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmic hereditary disease induced by an adrenergic stress (physical exercise or emotional stress) in the absence of any structural heart defect. Genetic analysis of CPVT is generally limited to RYR2 (50-60%), CASQ2 (3-5%) and KCNJ2 genes. The percentage indicates the frequency of variants found in these genes. Variants in the RYR2 gene can be found in the autosomal dominant form of the disease, whereas for the autosomal recessive form, they can be found in the CASQ2 gene. The MHI Molecular Diagnostic Laboratory reports the RYR2, CASQ2 and KCNJ2 genes in their first line testing. If no variant is identified, the ANK2, CALM1, CALM2 and TRDN genes are analyzed as second line.
PMID: 21787999, 2011
PMID: 21459272, 2011
PMID: 22119737, 2012
Tested Genes :
| 1st intent | 2nd intent | 3rd intent |
|---|---|---|
| CASQ2 KCNJ2 RYR2 | ANK2 CALM1 CALM2 TRDN | None |