A novel RyR2 mutation associated with co-morbid catecholaminergic polymorphic ventricular tachycardia (CPVT) and benign epilepsy with centrotemporal spikes (BECTS).
J Electrocardiol
; 84: 75-80, 2024.
Article
en En
| MEDLINE
| ID: mdl-38574633
ABSTRACT
In this case report, we describe a 14-year-old patient with a novel RyR2 gene mutation (c.6577G > T/p.Val2193Leu), identified through a comprehensive review of medical history, examination findings, and follow-up data. The pathogenic potential of this mutation, which results in the loss of some interatomic forces and compromises the closure of the RyR2 protein pore leading to calcium leakage, was analyzed using the I-TASSER Suite to predict the structural changes in the protein. This mutation manifested clinically as co-morbid catecholaminergic polymorphic ventricular tachycardia (CPVT) and benign epilepsy with centrotemporal spikes (BECTS), a combination not previously documented in the same patient. While seizures were successfully managed with levetiracetam, the patient's exercise-induced syncope episodes could not be controlled with metoprolol, highlighting the complexity and challenge in managing CPVT associated with this novel RyR2 variation.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Taquicardia Ventricular
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Canal Liberador de Calcio Receptor de Rianodina
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Mutación
Límite:
Adolescent
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Humans
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Male
Idioma:
En
Revista:
J Electrocardiol
Año:
2024
Tipo del documento:
Article