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Updated: May 28, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Estimation of Incidence and Prevalence of Pediatric Channelopathies in a Mediterranean Population Based on a

Alena Bagkaki1, John Papagiannis2, Aris Anastasakis2

  • 1School of Medicine, University of Crete, 71 003 Heraklion, Greece.

Children (Basel, Switzerland)
|May 27, 2026
PubMed

Insights

Pediatric channelopathies, rare inherited heart conditions, show an incidence in Crete comparable to other regions, with Long QT syndrome being most common. Further research is needed to understand regional variations and improve screening programs.

Area of Science:

  • Cardiology
  • Genetics
  • Epidemiology

Background:

  • Channelopathies are rare inherited cardiac diseases causing life-threatening arrhythmias.
  • Epidemiological data on pediatric channelopathies are limited, especially in Mediterranean populations.
  • This study investigates the epidemiology of channelopathies in children on Crete, Greece.

Purpose of the Study:

  • To evaluate the epidemiology of pediatric channelopathies in a Mediterranean population.
  • To determine the incidence and prevalence of channelopathies in children on Crete.
  • To identify common types and diagnostic patterns of pediatric channelopathies.

Main Methods:

  • A retrospective study was conducted over 24 years (2002-2025).
  • Included were children under 18 years diagnosed with channelopathies at a tertiary pediatric cardiology unit.
  • Disease-specific diagnostic criteria were used for enrollment.

Main Results:

  • 43 children from 32 families were identified, with an annual incidence of 1.43 per 100,000 children.
  • Long QT syndrome (LQTS) was predominant (38 cases), with rare Brugada syndrome and catecholaminergic polymorphic tachycardia.
  • Genetic testing was positive in 77% of cases, with LQT2 and LQT1 being the most frequent LQTS genotypes.

Conclusions:

  • The incidence of pediatric channelopathies in Crete is comparable to international data.
  • Regional clusters of increased incidence were observed, suggesting potential environmental or genetic factors.
  • Further epidemiological studies are crucial for understanding regional/ethnic differences and optimizing screening programs.
Abstract

Keywords:
CreteMediterraneanchannelopathychildhoodepidemiologylong QT syndromepediatric channelopathy

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