ABSTRACT
Resumen La taquicardia ventricular polimórfica catecolaminérgica es una enfermedad caracterizada por arritmias ventriculares desencadenadas por estrés o actividad física. Existen casos descritos de taquicardia ventricular polimórfica catecolaminérgica asociada a ventrículo izquierdo no compactado, en relación con mutaciones del gen RYR2 localizadas en el exón 3. Se expone el caso clínico de una paciente joven que debutó con clínica de síncopes recurrentes asociados a estrés físico o emocional. En el estudio posterior se descubrió taquicardia ventricular polimórfica catecolaminérgica, con áreas de miocardio no compactado y una nueva variante genética posiblemente asociada a la enfermedad.
Abstract Catecholaminergic polymorphic ventricular tachycardia is disease characterised by ventricular arrhythmias triggered by stress or physical activity. There are some cases of catecholaminergic polymorphic ventricular tachycardia described that are associated with non-compacted left ventricle in relation to mutations of the RYR2 gene located in exon 3. A case is presented of a young patient in whom the clinical signs started with recurrent syncope associated with physical or emotional stress. In the subsequent study, catecholaminergic polymorphic ventricular tachycardia was discovered, with areas of non-compacted myocardium and new genetic variant possibly associated with the disease.