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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited condition characterized by abnormal heartbeat (arrhythmia) resulting in sudden cardiac death (SCD) for approximately 1 in 10 000 people. It is one of the most lethal pathologies involving ion channels and is most commonly due to mutations in the ryanodine receptor 2 (RYR2) gene.

Abnormal heartbeat is triggered by an increased heart rate as a result of exercise or stress, however CPVT cannot be detected while at rest, making the diagnosis difficult. Cardiologists have neither optimal tools to assess risk nor effective interventions available to diagnose or treat the condition.

This project brings together global clinical leaders and basic scientists with expertise in inherited arrhythmia conditions and international registries to develop an effective strategy for rationalizing therapies based on an individual’s risk profile, while reducing and preventing SCD.

This international team aims to establish an international CPVT registry and a corresponding biobank to enable identification of relevant new genes, correlate genetic variants with corresponding physical characteristics, and to generate risk prediction tools for clinical use. Throughout this work, the team hopes to enhance understanding of RYR2 mutations in CPVT by performing basic research experiments that reflect conditions observed in the clinic.

By treating CPVT patients according to risk stratification based on demographics, family history, clinical presentation, genetics, and functional characteristics, we aim to improve patient outcomes and save lives.