Epidemiology of paediatric inherited arrhythmogenic diseases under "Real World" conditions: findings from a 10-year longitudinal study in Eastern Austria

Sulaima Albinni ¹, Julian Heno ¹, Marianne Gwechenberger ²

⁰Department of Paediatrics and Adolescent Medicine, Paediatric Heart Centre, Medical University of Vienna, Vienna, Austria.

European Journal of Pediatrics +

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December 2, 2025

View abstract on PubMed

Summary

This study found lower prevalence of inherited arrhythmogenic diseases (IADs) in children than previously reported. Early detection through targeted screening and family care is crucial for managing these rare cardiac conditions.

Area Of Science

Cardiology
Genetics
Pediatrics

Background

Hereditary primary electrical disorders, a group of rare diseases, contribute significantly to sudden cardiac deaths in young individuals.
Early detection of these conditions in the pediatric population is critical for timely intervention and prevention of adverse outcomes.
Existing prevalence data for inherited arrhythmogenic diseases (IADs) may not fully reflect real-world scenarios.

Purpose Of The Study

To determine the "Real World" prevalence of pediatric inherited arrhythmogenic diseases (IADs) including long QT syndrome (LQTS), Brugada syndrome (BrS), arrhythmogenic right ventricular cardiomyopathy (ARVC), catecholaminergic polymorphic ventricular tachycardia (CPVT), and laminopathies (LP).
To analyze the diagnostic pathways for each IAD in a pediatric cohort.
To compare findings with previously published data and inform future diagnostic strategies.

Main Methods

A single-center, cross-sectional study conducted over 10 years in Eastern Austria.
Inclusion of all pediatric patients with genetically and/or clinically diagnosed IADs.
Data collection on clinical symptoms, family history, and electrocardiogram (ECG) findings for prevalence and diagnostic path analysis.

Main Results

A total of 112 pediatric patients with IADs were enrolled, yielding an overall prevalence of 1:7000.
Subgroup prevalence: LQTS at 1:13,000, BrS at 1:22,000, ARVC at 1:43,000, and CPVT at 1:368,000.
Diagnostic paths varied: LQTS often diagnosed via incidental ECG (62%), while BrS (79%) and ARVC (64%) were primarily identified through family screening.

Conclusions

This study reports significantly lower pediatric IAD prevalence under "Real World" conditions compared to published data.
Findings suggest potential benefits from age-dependent screening programs for LQTS.
Intensive family screening and collaboration between pediatric and adult care providers are essential for diagnosing BrS and ARVC.

Keywords:

Arrhythmogenic right ventricular cardiomyopathy Brugada syndrome children Catecholaminergic polymorphic ventricular tachycardia IADs Intergenerational units Long QT screening Sudden cardiac death