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Updated: Apr 20, 2026

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
Inherited progressive cardiac conduction disorders
Alban-Elouen Baruteau1, Vincent Probst, Hugues Abriel
1aL'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, Centre National de la Recherche Scientifique (CNRS) UMR 6291, French Reference Center for Inherited Arrhythmias, Nantes University, Nantes bMarie Lannelongue Hospital, Department of Pediatric and Congenital Cardiac Surgery, M3C - French Reference Center for Complex Congenital Heart Diseases, Le Plessis Robinson/Paris Sud University, Le Kremlin Bicêtre, Paris, France cDepartment of Clinical Research, Swiss National Centre of Competence in Research (NCCR) TransCure, University of Bern, Bern, Switzerland.
Progressive cardiac conduction disorder (PCCD) is an inherited heart condition. Genetic screening identifies mutations in ion channel and transcription factor genes, crucial for risk assessment and family guidance.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Progressive cardiac conduction disorder (PCCD) is an inherited cardiac disease.
- It can manifest as a primary electrical issue or alongside structural heart disease.
Purpose of the Study:
- To review recent clinical, genetic, and molecular findings in PCCD.
- To highlight the genetic underpinnings of this inherited cardiac condition.
Main Methods:
- Review of recent clinical studies.
- Analysis of genetic and molecular data related to PCCD.
- Examination of gene variants associated with cardiac conduction.
Main Results:
- Inherited PCCD in normal hearts linked to variants in ion channel genes (e.g., SCN5A, TRPM4) and connexin proteins.
- SCN5A mutations can cause 'cardiac sodium channelopathy overlap syndrome'.
- Mutations in transcription factor genes (NKX2.5, TBX5) are associated with PCCD and congenital heart defects.
Conclusions:
- PCCD is a hereditary syndrome with multiple identified genetic variants.
- Genetic screening is essential for risk stratification.
- Identifying causal mutations aids in family counseling for inherited cardiac conditions.
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