Taquicardia ventricular polimórfica catecolaminérgica en adolescente: un diagnóstico clínico, electrocardiográfico y genético

María Concepción Rocha-Arrieta; Antonio Arias-Díaz; Carlos Alberto Quiróz-Romero; Yermis Rocha-Arrieta

doi:10.47487/apcyccv.v2i3.151

Authors

María Concepción Rocha-Arrieta Universidad de Cartagena. Cartagena, Colombia. https://orcid.org/0000-0003-0823-6918
Antonio Arias-Díaz Unidad de Cuidados Intensivos Pediátricos, Fundación Unidad de Cuidados Intensivos Dona Pilar. Cartagena, Colombia.
Carlos Alberto Quiróz-Romero Fundación Cardiovascular del Oriente Colombiano. Bucaramanga, Colombia.
Yermis Rocha-Arrieta Universidad de Antioquia. Medellín, Colombia. https://orcid.org/0000-0002-0390-8255

DOI:

https://doi.org/10.47487/apcyccv.v2i3.151

Keywords:

Tachycardia, ventricular, Syncope, Death, sudden, Genetic, Ryanodine

Abstract

Catecholaminergic polymorphic ventricular tachycardia is one of the most lethal channelopathies, characterized by ventricular arrhythmias triggered by stress or physical activity. We present the case of an adolescent who consulted for recurrent syncope precipitated by exercise. In the diagnostic approach, catecholaminergic polymorphic ventricular tachycardia was reached, with a mutation in the cardiac ryanodine receptor gene, Heterozygous c.14311G> A (p.v4771I exon 100), antiarrhythmic drugs and implantable cardioverter-defibrillator were necessary with satisfactory evolution. Clinical suspicion, stress test and genetic tests are essential for a timely diagnosis and management of this pathology.

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