Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
September 10, 2025

Beyond the Beat, Next-Generation Sequencing Discovery of Novel

View Full Paper
Ask AI
Bookmark
Share

Authors

SKSamira KalayiniaAJAmir Ghaffari JolfayiASAmirali Soheili

Discussion

Loading...

Member takes

Overview

This analysis reveals a pathogenic RYR2 variant in a child with long QT syndrome, suggesting improved genetic testing approaches.

Key Points

  • A pathogenic RYR2 variant was identified, clarifying the genetic causes of long QT syndrome.
  • The patient's QTc increased from 470 ms to 500 ms during testing, indicating significant risk for arrhythmias.
  • Whole-exome sequencing and Sanger sequencing confirmed the missense variant's pathogenicity in the child and mother.
  • The findings support the inclusion of RYR2 in genetic testing panels for atypical LQTS cases.

Cite This Study

Kalayinia et al. (2025) studied this question.

synapsesocial.com/papers/68c23caeb210217d6478a868https://doi.org/10.1155/crp/1928541
View Full Paper
Ask AI
Bookmark
Share

Also Consider

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

  1. 1Genetic Profile of Pediatric-Onset Cardiac Channelopathies2025
  2. 2Long QT syndrome in paediatric patients: a single-centre perspective2026
  3. 3Paediatric long QT syndrome: clinical outcomes and therapy in the Spanish National Registry2026 · 1 citations
  4. 4Multimodality Risk Stratification in Athletes With Long QT Syndrome2026
  5. 5Fetal Bradycardia Prompting the Diagnosis and Management of Parental Long QT Syndrome2025