Síndrome de Andersen-Tawil, un diferencial de taquicardia ventricular bidireccional: reporte de un caso

Paula N. Vanegas-Rincón; Luis E. Villamil-Ramírez; Julio C. Rojas-Rojas; Miguel J. Tejeda-Camargo; Richard Soto Becerra

doi:10.47487/apcyccv.v5i3.378

Authors

Paula N. Vanegas-Rincón Angiografía de Colombia, Clínica Cardiovascular; Villavicencio, Meta, Colombia. https://orcid.org/0009-0009-8816-8724
Luis E. Villamil-Ramírez Angiografía de Colombia, Clínica Cardiovascular; Villavicencio, Meta, Colombia. https://orcid.org/0009-0001-6295-5609
Julio C. Rojas-Rojas Angiografía de Colombia, Clínica Cardiovascular; Villavicencio, Meta, Colombia. https://orcid.org/0000-0002-3247-3983
Miguel J. Tejeda-Camargo Angiografía de Colombia, Clínica Cardiovascular; Villavicencio, Meta, Colombia; Cardiometa, Villavicencio, Meta, Colombia. https://orcid.org/0000-0002-4971-2258
Richard Soto Becerra Facultad de Medicina, Universidad Nacional Mayor de San Marcos, Lima, Perú. https://orcid.org/0000-0003-3447-061X

DOI:

https://doi.org/10.47487/apcyccv.v5i3.378

Keywords:

Andersen Syndrome, Long QT Syndrome, Tachycardia, Ventricular, Mutation

Abstract

We present the case of a patient with Andersen-Tawil syndrome (ATS), a rare genetic disorder characterized by the presence of ventricular arrhythmias, skeletal dysmorphic features, and periodic muscle paralysis,. The diagnosis was delayed due to the non-simultaneity of symptom presentation. The report highlights the importance of investigating neurological symptoms in the presence of ventricular arrhythmias of unclear origin or cardiac symptoms in patients with periodic paralysis. The diagnosis was confirmed by the identification of a mutation in the KCNJ2 gene (c.224C>T(p.Thr75Met)); this specific mutation has not been reported in the gnomAD database, suggesting a minor allele frequency (MAF) of less than 1%. The patient is currently managed pharmacologically with a betablocker and remains free of arrhythmias.

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