Table 1 Clinical characteristic of six children with CPVT in our center
Patient | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
Sex | Male | Male | Male | Male | Female | Male |
Initial admitted Department | Neurology | Neurology | Cardiology | Cardiology | Cardiology | Cardiology |
Primary diagnosis | Epilepsy | Epilepsy | Ventricular arrhythmia | Epilepsy? Ventricular arrhythmia | Ventricular arrhythmia CPVT? Early repolarization syndrome? | Adam-Stokes Syndrome; Ventricular arrhythmia; CPVT? |
Age of onset, years | 7.0 | 8.0 | 7.8 | 3.3 | 11.0 | 9 |
Age at diagnosis, years | 12.9 | 8.2 | 8.8 | 5.9 | 14.1 | 11.9 |
Delay of diagnosis, years | 5.9 | 0.2 | 1.0 | 2.6 | 3.1 | 2.9 |
Positive family history | - | - | - | - | - | - |
Syncope | Monthly | 4 times | 7 times | Monthly | 3 times | 6 times |
Cardiac arrest | + | + | - | + | - | - |
Trigger | ||||||
Exercise | + | - | + | - | + | + |
Emotional stress | - | + | - | + | - | - |
Genetic results | RYR2, c.537T>G | RYR2, c.6737 C>T | RYR2, c.13952G > T SCN5A, c.3183 A > C | RYR2, c.7580T>G SCN5A, c.677 C > T | RYR2, c.14876G > A | RYR2, c.12284G > A |
Positive exercise testing | + | NA | + | NA | + | + |
Electrocardiogram | Sinus bradycardia | Sinus bradycardia | Sinus bradycardia | Sinus bradycardia | Sinus bradycardia | Sinus bradycardia |
Exercise testing result | Ventricular premature beat and bigeminy | Ventricular premature beat, bVT | pVT, bVT | Ventricular premature beat, pVT | Ventricular premature beat, pVT | pVT, bVT |
Medical therapy | Metoprolol | Metoprolol | Metoprolol | Metoprolol | Metoprolol | Metoprolol |
Initial dose | 0.5 mg/kg/d | 0.5 mg/kg/d | 0.6 mg/kg/d | 0.4 mg/kg/d | 1 mg/kg/d | 1 mg/kg/d |
Maintain dose | 1 mg/kg/d | 1 mg/kg/d | 2 mg/kg/d | 1 mg/kg/d | 1 mg/kg/d | 1.5 mg/kg/d |
Beta-blocker failure | - | + | + | - | - | - |
Pacemaker | - | - | - | - | - | - |
Implantable cardioverter defibrillator (ICD) | - | - | + | - | - | - |
Prognosis | Die | Die | Survive | Die | Survive | Survive |