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February 29, 2024Heart and MindOpen Access

Clinical and Genetic Characteristics of 18 Cases with Suspected Congenital Long QT Syndrome: A Retrospective Cross-Sectional Study

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Authors

CGChunyu GuYZYing ZhangMSMei Sun

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Overview

Retrospective cross-sectional study identifies pathogenic variants in pediatric long QT syndrome, highlighting diagnostic value of combining genetic testing with electrocardiograms.

Key Points

  • Pathogenic genetic variants were identified in 44.4% of pediatric patients with long QT syndrome, with syncope presenting as the primary clinical symptom.
  • Mean corrected QT interval reached 522 ms in variant-positive patients compared to 481 ms in negative cases, while 63.6% with high Schwartz score had the condition.
  • Whole-exome sequencing and Sanger sequencing in 18 probands expanded the SCN5A variant spectrum and revealed asymptomatic carrier parents on electrocardiogram.

Cite This Study

Gu et al. (2024) studied this question.

synapsesocial.com/papers/68e76e68b6db6435876e408fhttps://doi.org/10.4103/hm.hm-d-23-00002
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1CLINICAL AND GENETIC CHARACTERISTICS OF LONG QT SYNDROME: A SINGLE-CENTER ANALYSIS2026
  2. 2Clinical, genetic characteristics, and course of congenital long QT syndrome in children: a nine years single-center experience2020 · 8 citations
  3. 3Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk2026
  4. 4Clinical characteristics of patients with various genetic types of long QT syndrome2022 · 2 citations
  5. 5Congenital Long QT Syndrome: a Systematic Review2021 · 24 citations