Andersen-Tawil Syndrome, a differential of bidirectional ventricular tachycardia: a case report

Tejeda-Camargo M.J.; Vanegas-Rincón P.N.; Villamil-Ramírez L.E.; Rojas-Rojas J.C.; Soto Becerra R. · Archivos Peruanos de Cardiologia y Cirugia Cardiovascular (2024) · DOI: 10.47487/apcyccv.v5i3.378

Resumen

We present the case of a patient with Andersen-Tawil syndrome (ATS), a rare genetic disorder characterized by ventricular arrhythmias, dysmorphic features at the skeletal level and periodic muscle paralysis. The diagnosis was delayed due to the non-simultaneous presentation of symptoms. This case underscores the importance of investigating neurological symptoms in patients with unexplained ventricular arrhythmias, as well as considering cardiac symptoms in those with periodic paralysis. The diagnosis was confirmed through the identification of a mutation in the KCNJ2 gene (c.224C>T(p. Thr75Met)); which has not been reported in the gnomAD database, suggesting a minor allele frequency (MAF) of less than 1%. The patient is currently being managed pharmacologically with a beta-blocker and remains free of arrhythmias episodes.

Instituciones: Universidad Nacional Mayor de San Marcos