eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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vol. 16
Letter to the Editor

Catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias

Antonio Gallegos Cortez
Néstor Alonso Ortiz
Erika Antunez Argüellez
Teresa Villarreal Molina
Armando Totomoch Serra
Pedro Iturralde Torres
Manlio F. Márquez

Arch Med Sci 2020; 16 (2): 466–470
Online publish date: 2019/11/12
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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon arrhythmogenic disorder characterized by adrenergic- induced bidirectional and polymorphic VT occurring in young patients with a structurally normal heart [1–3]. Although the actual prevalence of CPVT is unknown, it is estimated at 1 : 10,000 [4]. We present the case of a 12-year-old girl suffering multiple falls while cycling finally diagnosed with CPVT and found to be heterozygous for a pathogenic RYR2 gene mutation. She did not have a family history of syncope or sudden cardiac death and was referred because of suffering multiple falls and minor trauma while riding her bicycle starting at age eight years. Initially, her parents attributed the falls to inexperience but sought medical assistance when tonic movements of both arms occurred during one of the falls. The first clinical diagnosis was epilepsy, and, without further studies, she was treated with magnesium valproate for six months without clinical improvement. Due to the lack of response and the correlation of falls with exercise she was referred for evaluation to the Electrophy¬siology Department of the Hospital General Naval de Alta Especialidad.
On interrogation, the child (and her mother corroborated) had reduced exercise tolerance, quick fatigue, pallor, shortness of breath, and fast and irregular heartbeats associated with exercise. Physical examination was normal. The ECG showed normal P wave, PR, and QT intervals; only a fragmented QRS complex and nonspecific T wave abnormalities were observed, particularly in precordial leads, where a small notch in the descending limb of the T wave could be found (Figure 1 A). The chest X-ray and echocardiogram were normal. Holter monitoring (Figure 1 B) showed frequent ventricular premature beats (VPB) with multiple morphologies (14%, n = 1603), and presence of couplets and triplets (pleomorphic), reproducible with heart rates above 110 bpm. Also, a self-limited supraventricular tachycardia at 261 bpm was documented.
In an exercise stress test (Bruce protocol; Figure 2) a monomorphic VPB occurred when the heart rate reached 100 bpm. Ventricular premature beats in bigeminy and pleomorphic couplets were observed shortly after, then bidirectional VT at 200 bpm occurred, and a brief episode of polymorphic VT (7 beats) was recorded just before the exercise was stopped. These findings were associated with pallor, diaphoresis, and dyspnea. Paroxysmal supraventricular...

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