Neurologic presentation unmasks arrhythmogenic channelopathy: KCNH2 variant Long-QT syndrome managed with subcutaneous implantable cardioverter-defibrillator. A case report
- 1Instituto Nacional Cardiovascular, INCOR-EsSalud, Lima, Peru. Instituto Nacional Cardiovascular, INCOR-EsSalud Lima Peru
- 2Unidad de arritmias, Instituto Nacional Cardiovascular, INCOR-EsSalud, Lima, Peru. Unidad de arritmias, Instituto Nacional Cardiovascular, INCOR-EsSalud Lima Peru
Abstract
A previously healthy 10-year-old boy developed febrile seizure-like episodes after an appendectomy, which were diagnosed as epilepsy despite a normal electroencephalogram. He later presented with dyspnea and palpitations and was prescribed propafenone for frequent premature ventricular complexes. The electrocardiogram showed a markedly prolonged QTc interval of 550 ms with a notched T wave in lead V2. Phenytoin and propafenone were discontinued, and propranolol was initiated, but QTc prolongation persisted. The combination of severely prolonged QTc, characteristic T-wave morphology, and absence of structural heart disease redirected the diagnosis toward a repolarization channelopathy; genetic testing confirmed long-QT syndrome type 2 due to a pathogenic KCNH2 c.1814C>T variant. β-blocker therapy was optimized, QT-prolonging triggers were avoided, and a subcutaneous implantable cardioverter-defibrillator was implanted. Cascade genetic screening identified no additional KCNH2 carriers. One variant-negative sister had frequent idiopathic right ventricular outflow tract premature ventricular complexes and was referred for catheter ablation.
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BibTeX
@article{vallejosbarrientos2026neurologic,
title = {{Neurologic presentation unmasks arrhythmogenic channelopathy: KCNH2 variant Long-QT syndrome managed with subcutaneous implantable cardioverter-defibrillator. A case report}},
author = {Alexis Vallejos-Barrientos and Alessandra Centeno-Araujo and Richard Soto-Becerra and Mario Cabrera-Saldaña and Carolina Guevara-Caicedo and Ana Cecilia Gonzales-Luna and Marisel Payano-Rojas and Ángel Cueva-Parra and Ronal Calle-García and Carlos Ramos-Godoy and Pío Zelaya-Castro},
journal = {Archivos Peruanos de Cardiología y Cirugía Cardiovascular},
year = {2026},
month = sep,
doi = {10.47487/apcyccv.v7i3.601},
url = {https://doi.org/10.47487/apcyccv.v7i3.601},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Neurologic presentation unmasks arrhythmogenic channelopathy: KCNH2 variant Long-QT syndrome managed with subcutaneous implantable cardioverter-defibrillator. A case report
AU - Alexis Vallejos-Barrientos
AU - Alessandra Centeno-Araujo
AU - Richard Soto-Becerra
AU - Mario Cabrera-Saldaña
AU - Carolina Guevara-Caicedo
AU - Ana Cecilia Gonzales-Luna
AU - Marisel Payano-Rojas
AU - Ángel Cueva-Parra
AU - Ronal Calle-García
AU - Carlos Ramos-Godoy
AU - Pío Zelaya-Castro
PY - 2026
DA - 2026/09/26
JO - Archivos Peruanos de Cardiología y Cirugía Cardiovascular
DO - 10.47487/apcyccv.v7i3.601
UR - https://doi.org/10.47487/apcyccv.v7i3.601
AB - A previously healthy 10-year-old boy developed febrile seizure-like episodes after an appendectomy, which were diagnosed as epilepsy despite a normal electroencephalogram. He later presented with dyspnea and palpitations and was prescribed propafenone for frequent premature ventricular complexes. The electrocardiogram showed a markedly prolonged QTc interval of 550 ms with a notched T wave in lead V2. Phenytoin and propafenone were discontinued, and propranolol was initiated, but QTc prolongation persisted. The combination of severely prolonged QTc, characteristic T-wave morphology, and absence of structural heart disease redirected the diagnosis toward a repolarization channelopathy; genetic testing confirmed long-QT syndrome type 2 due to a pathogenic KCNH2 c.1814C>T variant. β-blocker therapy was optimized, QT-prolonging triggers were avoided, and a subcutaneous implantable cardioverter-defibrillator was implanted. Cascade genetic screening identified no additional KCNH2 carriers. One variant-negative sister had frequent idiopathic right ventricular outflow tract premature ventricular complexes and was referred for catheter ablation.
SN - 2708-7212
ER -