About Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic Polymorphic Ventricular Tachycardia is a severe inherited arrhythmia syndrome in which adrenergic stimulation during exercise or emotional stress triggers bidirectional or polymorphic ventricular tachycardia, leading to syncope and sudden cardiac death in structurally normal hearts. Mutations in RYR2, encoding the cardiac ryanodine receptor responsible for intracellular calcium release during excitation-contraction coupling, account for the majority of cases, with recessive mutations in CASQ2 (calsequestrin 2) responsible for a smaller proportion. The arrhythmia is highly reproducible on exercise stress testing, which is both the key diagnostic tool and a monitoring method used in clinical trials.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Catecholaminergic Polymorphic Ventricular Tachycardia trials.
Exercise stress testing is the definitive diagnostic tool and is used as a primary outcome measure in CPVT trials; a baseline graded exercise test with continuous ECG monitoring is typically required.
Genetic confirmation of RYR2 or CASQ2 pathogenic variants is important; given the implications for family members, cascade genetic testing should be performed before trial screening.
Current treatment with beta-blockers and flecainide is standard of care; many trials require patients to be on maximally tolerated medical therapy before enrolment, so document dosing history.
Patient Resources
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