Related Experiment Video

Updated: Aug 5, 2025

Ablation of Ischemic Ventricular Tachycardia Using a Multipolar Catheter and 3-dimensional Mapping System for High-density Electro-anatomical Reconstruction
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Ablation of Ischemic Ventricular Tachycardia Using a Multipolar Catheter and 3-dimensional Mapping System for High-density Electro-anatomical Reconstruction

Published on: January 31, 2019

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CPVT and Complete Atrio-Ventricular Block: The Flipside of the Same Coin

Mattia Petrungaro1,2, Antonio Scarà3, Alessio Borrelli3

  • 1Unit of Electrophysiology, Belcolle Hospital, 01100 Viterbo, Italy.

Journal of Cardiovascular Development and Disease
|March 28, 2023
PubMed

Insights

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare genetic heart condition. This study describes a family with CPVT caused by a RyR2 gene mutation, linked to complete AV block.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare genetic disorder.
  • It causes dangerous heart rhythms triggered by stress in structurally normal hearts.
  • Mutations in calcium homeostasis genes, especially RyR2, are common causes.

Purpose of the Study:

  • To report the first description of familial CPVT.
  • To identify the genetic cause linked to a specific cardiac mutation.
  • To investigate the association with complete AV block.

Main Methods:

  • Genetic analysis of affected family members.
  • Identification of mutations in the RyR2 gene.
  • Clinical assessment for cardiac arrhythmias and heart block.

Main Results:

  • A novel mutation in the RyR2 gene was identified as the cause of familial CPVT.
  • The CPVT in this family was associated with complete atrioventricular (AV) block.
  • This represents the first documented link between RyR2 mutation-related CPVT and complete AV block.

Conclusions:

  • Familial CPVT can be caused by RyR2 gene mutations.
  • The presence of complete AV block is a significant finding in this context.
  • Further research is needed to understand the combined implications of RyR2 mutations and AV block in CPVT.

Keywords:
CPVTRyr2TVNScatecholaminergic polymorphic ventricular tachycardiasudden cardiac death

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