A confirmed pathogenic mutation in a CPVT disease-causing gene establishes the diagnosis — even when the patient is completely asymptomatic. Current evidence supports active pharmacological management in this setting rather than watchful waiting.
The patient is a confirmed genetic carrier of a pathogenic mutation in a CPVT disease-causing gene. They are currently asymptomatic, with no documented ventricular arrhythmia and no history of aborted cardiac arrest.
The approach is anchored by non-selective beta-blocker therapy at the highest tolerated dose. Depending on the clinical picture, an additional antiarrhythmic agent may be layered on — the complete regimen is available in the structured protocol below.
DOI: 10.1093/eurheartj/ehac262
It is recommended that CPVT is diagnosed in patients who are carriers of a mutation in disease-causing genes.
Therapy with beta-blockers should be considered for genetically positive CPVT patients without phenotype.
This panel has confirmed the indication to treat genetically positive family members with beta-blockers, even in the absence of documented exercise- or stress-induced VAs.
Data suggest that flecainide significantly reduces the VA burden in CPVT patients and should be considered in addition to beta-blockers when control of arrhythmias is incomplete.
View source ↗