Paediatric long QT syndrome: clinical outcomes and therapy in the Spanish National Registry

BACKGROUND AND AIMS: Congenital long QT syndrome (LQTS) is a heterogeneous disorder in which genotype and QTc duration modulate the risk of major arrhythmic events (MAEs), but contemporary paediatric outcome data remain limited. This study aimed to characterize clinical features, management strategies, and predictors of MAEs in a nationwide paediatric LQTS cohort. METHODS: This retrospective multicentre study analysed children (<18 years) diagnosed with LQTS across 30 tertiary centres (2004-24) using 2022 European Society of Cardiology criteria. MAEs were defined as sudden cardiac death, aborted cardiac arrest, or appropriate implantable cardioverter-defibrillator (ICD) therapy. RESULTS: The cohort included 371 children (58% male; median diagnosis age 6.0 years; interquartile range .25-11 years). Pathogenic/likely pathogenic variants were identified in 86.5%, mainly in KCNQ1, KCNH2, or SCN5A, while 5.7% harboured high-risk genotypes (Jervell-Lange-Nielsen, calmodulinopathies, CACNA1C/Timothy). Beta-blockers were prescribed in 92.4%. Over a median 6-year follow-up, 14 children (3.8%) experienced MAEs, which occurred predominantly in those with high-risk genotypes, QTc ≥550 ms or very early presentation. MAEs were rare in LQT1-3 with QTc <500 ms. Foetal/neonatal bradycardia (5.1%) correlated with high-risk genotypes and adverse outcomes. ICDs were implanted in 33 children (8.9%); 10 (30%) received appropriate therapies, and 8 (24%) experienced complications. Left cardiac sympathetic denervation was performed in 33 (8.9%), mainly high-risk patients, and was associated with >80% arrhythmia-free survival without major complications. CONCLUSIONS: In this nationwide paediatric LQTS cohort, MAEs were uncommon and clustered in children with malignant genotypes, markedly prolonged QTc and very early presentation, particularly foetal or neonatal bradycardia. These data support the current genotype and QTc-guided management strategy, with beta-blockers as the cornerstone therapy and selective use of left cardiac sympathetic denervation and ICDs in high-risk profiles.

Authors

Institutions

Publication Details

Journal
European Heart Journal
Published
2026-07-17
DOI
https://doi.org/10.1093/eurheartj/ehag513
Primary Topic
Cardiac electrophysiology and arrhythmias
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Paediatric long QT syndrome: clinical outcomes and therapy in the Spanish National Registry

María Isabel Robles, María Teresa Viadero, Georgia Sarquella‐Brugada, Ángeles Ortega Montes et al.
European Heart Journal
Cardiac electrophysiology and arrhythmias
article

Paediatric long QT syndrome: clinical outcomes and therapy in the Spanish National Registry

María Isabel Robles, María Teresa Viadero, Georgia Sarquella‐Brugada, Ángeles Ortega Montes, Francesca Perín, Enrique Blanca Jover, Elena Montañés Delmás, Francisco Bermúdez-Jiménez, Francisco José Castro-García, Estefanía Martinez-Barrios, Beatriz Plata Izquierdo, Juan Jiménez‐Jáimez, A. Ayerza Casas, Paula de Vera McMullan, María del Mar Rodríguez Vázquez del Rey, Ferran Rosés‐Noguer, Andrea Greco, Ana Siles, Sandra Rocamora Salort, Marta Villares Alonso, Laura Marcos-Fuentes, Gloria López-Blanco, Bárbara C. Fernández-Barrio, Roger Esmel-Vilomara, Antonio J. Cartón, María Arroyas, L. Megías, C. Gatta, Andrea Bueno-Gómez, Beatriz Salamanca-Zarzuela, Soledad Jimenez Casso, Belén Fernández-Tudela, Laura Caravaca-Pantoja, Miguel Ángel Matamala Morillo, Fernando Rueda Nuñez
article en

Abstract

BACKGROUND AND AIMS: Congenital long QT syndrome (LQTS) is a heterogeneous disorder in which genotype and QTc duration modulate the risk of major arrhythmic events (MAEs), but contemporary paediatric outcome data remain limited. This study aimed to characterize clinical features, management strategies, and predictors of MAEs in a nationwide paediatric LQTS cohort. METHODS: This retrospective multicentre study analysed children (<18 years) diagnosed with LQTS across 30 tertiary centres (2004-24) using 2022 European Society of Cardiology criteria. MAEs were defined as sudden cardiac death, aborted cardiac arrest, or appropriate implantable cardioverter-defibrillator (ICD) therapy. RESULTS: The cohort included 371 children (58% male; median diagnosis age 6.0 years; interquartile range .25-11 years). Pathogenic/likely pathogenic variants were identified in 86.5%, mainly in KCNQ1, KCNH2, or SCN5A, while 5.7% harboured high-risk genotypes (Jervell-Lange-Nielsen, calmodulinopathies, CACNA1C/Timothy). Beta-blockers were prescribed in 92.4%. Over a median 6-year follow-up, 14 children (3.8%) experienced MAEs, which occurred predominantly in those with high-risk genotypes, QTc ≥550 ms or very early presentation. MAEs were rare in LQT1-3 with QTc <500 ms. Foetal/neonatal bradycardia (5.1%) correlated with high-risk genotypes and adverse outcomes. ICDs were implanted in 33 children (8.9%); 10 (30%) received appropriate therapies, and 8 (24%) experienced complications. Left cardiac sympathetic denervation was performed in 33 (8.9%), mainly high-risk patients, and was associated with >80% arrhythmia-free survival without major complications. CONCLUSIONS: In this nationwide paediatric LQTS cohort, MAEs were uncommon and clustered in children with malignant genotypes, markedly prolonged QTc and very early presentation, particularly foetal or neonatal bradycardia. These data support the current genotype and QTc-guided management strategy, with beta-blockers as the cornerstone therapy and selective use of left cardiac sympathetic denervation and ICDs in high-risk profiles.

European Heart Journal
Universitat de Vic - Universitat Central de Catalunya (ES), Hebron University (PS), Universitat Autònoma de Barcelona (ES), Hospital Sant Joan de Déu Barcelona (ES), Universidad de Granada (ES), Universidad de Salamanca (ES), Universitat de Girona (ES), Hospital Universitario de Canarias (ES), Hospital Universitario La Paz (ES), Hospital de Sant Pau (ES), Hospital Universitari i Politècnic La Fe (ES), Research Institute Hospital 12 de Octubre (ES), Hospital General De Segovia (ES), Barcelona Graduate School of Mathematics (ES), Royal Brompton Hospital (GB), Marqués de Valdecilla University Hospital (ES), Hospital Universitario 12 De Octubre (ES), Hospital Universitario Puerta de Hierro Majadahonda (ES), Thomas Foundation (AU), Hospital General de Granollers (ES), Hospital Infantil Universitario Niño Jesús (ES), Instituto de Investigación Biosanitaria de Granada (ES), Hospital Universitario Miguel Servet (ES), Hospital General Universitario de Elche (ES), Hospital Universitario Virgen de las Nieves (ES), Hospital San Juan de Dios (CL), Sant Joan de Déu Research Foundation (ES), Vall d'Hebron Hospital Universitari (ES), Hospital Materno-Infantil (ES), Hospital Universitario Central de Asturias (ES), Complexo Hospitalario Universitario A Coruña (ES), ERN GUARD-Heart (NL), Hospital General Universitario de Albacete (ES), Hospital Universitario Virgen de la Arrixaca (ES), Complejo Hospitalario Torrecárdenas (ES), Hospital Universitario Virgen del Rocío (ES), Hospital Universitario de Móstoles (ES), Hospital Universitario Río Hortega (ES), Hospital Universitario Severo Ochoa (ES), Instituto de Investigación Biomédica de A Coruña (ES), Hospital Universitario de León (ES), Hospital Universitario Infanta Cristina (ES), Barcelona School of Economics (ES), Universidad Autónoma de Madrid (ES), Universitat de Barcelona (ES), Universidad de Murcia (ES), Universidad de Málaga (ES)
Good health and well-being
Openalex Percentile: Top 8%
Cardiac electrophysiology and arrhythmias
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.