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A 10-year-old boy has syncope during a soccer game. Baseline ECG is normal, but exercise stress test induces bidirectional ventricular tachycardia.
- AD: RYR2 (60%)
- AR: CASQ2
- Exercise or emotion-induced syncope/cardiac arrest
- Normal baseline ECG and normal heart structure
- Exercise test: bidirectional or polymorphic VT
- Young age of onset
- Resting ECG and cardiac structure (echo/MRI) are normal, so the diagnosis rests on a provoked arrhythmia
- Exercise stress testing (or catecholamine challenge) reproducibly induces bidirectional or polymorphic VT, the diagnostic hallmark
- Genetic testing of RYR2 (and CASQ2) confirms the diagnosis and enables cascade screening of relatives
- Beta-blockers, ICD, flecainide, avoid competitive sports