Next Article in Journal
Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference
Next Article in Special Issue
Left Ventricular Non-Compaction Spectrum in Adults and Children: From a Morphological Trait to a Structural Muscular Disease
Previous Article in Journal
Acknowledgment to Reviewers of Cardiogenetics in 2021
Previous Article in Special Issue
Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation
Article

Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3

1
German Heart Center Munich, Department of Congenital Heart Defects and Pediatric Cardiology, School of Medicine & Health, Technical University of Munich, 80636 Munich, Germany
2
Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine & Health, Technical University of Munich, 81675 Munich, Germany
3
Department of Internal Medicine I, Klinikum Rechts der Isar, School of Medicine & Health, Technical University of Munich, 81675 Munich, Germany
4
Heart Center Leipzig, Department of Pediatric Cardiology, University of Leipzig, 04289 Leipzig, Germany
5
DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, 80802 Munich, Germany
*
Author to whom correspondence should be addressed.
Academic Editor: Matteo Vatta
Cardiogenetics 2022, 12(1), 90-101; https://doi.org/10.3390/cardiogenetics12010009
Received: 30 December 2021 / Revised: 12 February 2022 / Accepted: 17 February 2022 / Published: 21 February 2022
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with sudden cardiac death (SCD). This study aimed to identify the clinical and molecular genetic risk factors that contribute to major arrhythmic events (MAEs) in patients with genetically confirmed childhood onset LQTS 1–3. This study was a retrospective double-center study. An MAE was defined as the occurrence of SCD, aborted SCD, appropriate implantable cardioverter defibrillator discharge, or sustained ventricular tachycardia. During a median follow-up of 4.6 years (range 0.1–24.3 years), MAEs occurred in 18 (17.8%) of 101 patients diagnosed with LQTS at a median of 7.7 years (range 0.0–18.0 years) despite the use of beta-blockers in 91.6% of patients at the last follow-up. A multivariate analysis identified a genetic diagnosis of LQTS2 and LQTS3 and variants within the KCNH2 S5-loop-S6 pore region as independent risk factors for MAEs, independent of the QTc value or a history of syncope detected from a univariate analysis. MAEs occur frequently in childhood onset LQTS despite beta-blocker treatment. A detailed molecular genetic diagnosis can contribute to the arrhythmia risk stratification and optimize the use of preventive measures in this vulnerable patient population. View Full-Text
Keywords: Long QT; LQTS; risk factors; major arrhythmic event; pediatric Long QT; LQTS; risk factors; major arrhythmic event; pediatric
Show Figures

Figure 1

MDPI and ACS Style

Burkard, T.; Westphal, D.S.; Markel, F.; Gebauer, R.A.; Hessling, G.; Wolf, C.M. Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3. Cardiogenetics 2022, 12, 90-101. https://doi.org/10.3390/cardiogenetics12010009

AMA Style

Burkard T, Westphal DS, Markel F, Gebauer RA, Hessling G, Wolf CM. Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3. Cardiogenetics. 2022; 12(1):90-101. https://doi.org/10.3390/cardiogenetics12010009

Chicago/Turabian Style

Burkard, Tobias, Dominik S. Westphal, Franziska Markel, Roman A. Gebauer, Gabriele Hessling, and Cordula M. Wolf. 2022. "Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3" Cardiogenetics 12, no. 1: 90-101. https://doi.org/10.3390/cardiogenetics12010009

Find Other Styles

Article Access Map by Country/Region

1
Back to TopTop