A ten-year-old girl was seen in the emergency room for loss of knowledge of about 4 minutes while she was doing gymnastics at school, without sphincter relaxation, or accompanying tonic-clonic movements.
Family history: she has no history of syncope or sudden death.
Personal history without interest.
The patient remained stable in the emergency room with a normal physical examination, blood tests and rest electrocardiogram.
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She was admitted under observation in the Pediatrics ward, monitored, with no incidents.
The following complementary tests were performed: normal echocardiogram, electrocardiogram (ECG) normal ECG-Holter.
Ergometry, at peak exertion at 178-180 beats per minute, shows bigeminism and couples of ventricular extrasystoles (VRS) with asymptomatic morphology of right bundle branch block (BRD).
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These findings are derived to the Arrhythmia Unit of the Vall d'Hebrón Hospital.
A provocation test is carried out with frequent voiding episodes as from stage 3 with bigeminism, followed by bidirectional VoiSS couples and even a saved bidirectional ventricular tachycardia
The test is considered positive for catecholaminergic polymorphic ventricular tachycardia (CPVT).
A arrhythmias detector was implanted subcutaneously and treatment with nadolol 20 mg/12 h was initiated.
At regular visits, the patient reported no symptoms and the electrocardiograms were normal.
Two months after starting treatment, the patient is asymptomatic, the ECG-Holter is normal, and no electrocardiographic changes were observed at 66% of the predicted 20 mg heart rate on exercise testing (treatment for his age).
A genetic study was performed on the parents, and the mother was positive for the variant c.7426T>A (p.Tyr2476Asn) in the RYR2 gene, responsible for CVT.
