scholarly journals A Case of Brugada Syndrome Associated with Inferolateral Early Repolarization Presenting Idiopathic Ventricular Fibrillation

2011 ◽  
Vol 31 (5) ◽  
pp. 476-484
Author(s):  
Shioto Yasuda ◽  
Yousuke Kokawa ◽  
Hisataka Nakamura ◽  
Mitsuhiro Fukata ◽  
Keita Odashiro ◽  
...  
Keyword(s):  
Ventricular Fibrillation ◽  
Brugada Syndrome ◽  
Early Repolarization ◽  
Idiopathic Ventricular Fibrillation

Abstract 15210: Do Idiopathic Ventricular Fibrillation and Brugada Syndrome Patients Have Favor Outcomes in the Targeted Temperature Management Era?

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Eisuke Kagawa ◽  
Masaya Kato ◽  
Noboru Oda ◽  
Eiji Kunita ◽  
Michiaki NAGAI ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Survival Rate ◽  
Ventricular Fibrillation ◽  
Brugada Syndrome ◽  
Cardiac Dysfunction ◽  
Targeted Temperature Management ◽  
Temperature Management ◽  
Circulatory Support ◽  
Idiopathic Ventricular Fibrillation ◽  
Coronary Syndrome

Introduction: Idiopathic ventricular fibrillation (IVF) including Brugada syndrome (BS) is one of causes of cardiac arrest without prior overt cardiac dysfunction. Hypothesis: We assessed the hypothesis that patents of IVF had favor outcomes than those of non-IVF after cardiac arrest treated with targeted temperature management (TTM). Methods: Patients who were treated with TTM after cardiac arrest between 2000 and 2019 were enrolled in the study. Patients were divided into 2 groups according to whether the patients were diagnosed as IVF or not. The patients treated with TTM were routinely performed coronary angiography. Results: Among the study patients (N = 306), 35 (11%) patients were IVF and 7 were BS. The patients of the IVF group were significantly younger (median 53 y vs. 64 y) than those of the non-IVF group. The prevalence of initial rhythm was shockable (69% vs. 47%, P = 0.02) was significantly higher in the patients of the IVF group than those of the non-IVF group. Among the patients in the non-IVF group, 114 patients (42%) were diagnosed as acute coronary syndrome and 93 patients (35%) were treated with coronary revascularization. The prevalence of male sex (77% vs 74%, P = 0.70) and witnessed to arrest (80% vs. 81%, P = 0.87), and low-flow time (29 min vs. 38 min [20 - 43 min vs. 21 - 52 min, P = 0.15]) were similar between the 2 groups. The prevalence of performing extracorporeal resuscitation (9% s 43%, P < 0.001) were lower in the patients of the IVF group. The 8-y survival rate were shown in the figure. All of the BS patients were witnessed arrest and were discharged without severe neurological deficit. The IVF as the cause of arrest was independently associated with 8-y survival. Conclusions: The patients of IVF had favor outcomes than those of non-VF. One of causes may be the lower prevalence of requiring extracorporeal circulatory support due to less cardiac dysfunction. The patients of BS had the tendency toward higher survival rate than those of non-BS IVF patients.

Abstract 5317: Identification and Characterization of a Novel Susceptibility Gene, SCN3B, for Idiopathic Ventricular Fibrillation

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Carmen R Valdivia ◽  
Argelia Mereidos-Domingo ◽  
Thimothy J Algiers ◽  
Michael J Ackerman ◽  
Jonathan C Makielski
Keyword(s):  
Ventricular Fibrillation ◽  
Sodium Channel ◽  
Brugada Syndrome ◽  
Mutational Analysis ◽  
Sodium Current ◽  
Susceptibility Gene ◽  
Site Directed Mutagenesis ◽  
Macromolecular Complex ◽  
Patch Clamp Technique ◽  
Idiopathic Ventricular Fibrillation

Background: Mutations in the Na V 1.5 sodium channel macromolecular complex have been identified in some cases classified as idiopathic ventricular fibrillation (IVF). IVF and Brugada syndrome (BrS) are partially overlapping syndromes. Here, we report a mutation in SCN3B- encoded sodium channel β3 subunit as a novel pathogenic mechanism for IVF. Methods: Comprehensive open reading frame mutational analysis of SCN5A, GPD1L, and the beta subunit genes ( SCN1–4B ) was performed using PCR, DHPLC, and direct DNA sequencing of DNA extracted from a 20-year-old patient diagnosed with IVF. The SCN3B mutation was made by site directed mutagenesis and co-transfected with SCN5A into HEK-293 cells for functional chraracterization using the patch clamp technique. Results: A novel missense mutation, V54G-SCN3B, was identified in a 20-year-old male following collapse and external defibrillation from VF. After recovery, there was no detectable electrocardiographic abnormality. Imaging studies demonstrated a structurally normal heart, and the patient was diagnosed with IVF. The mutation was absent in 800 reference alleles and involved a highly conserved residue in the extracellular domain of the beta 3 subunit. No other mutations were identified in the 5 other genes. HEK cells expressing SCN5A and either WT-, or V54G-SCN3B were studied 24 hours after transfection. Cells expressing V54G-SCN3B showed significant decrease in sodium current density of 60±20 pA/pF compared to 203±35 pA/pF in WT-SCN3B (n=14–19). In addition V54G-SCN3B significantly shifted the activation curve +5 mV without affecting inactivation. Conclusions: This study provides the first molecular and cellular evidence implicating SCN3B in IVF. Given the marked loss-of-function to the sodium channel by V54G-SCN3B and the overlap between IVF and BrS, it will be interesting to determine whether mutations in SCN3B explain some cases of genotype negative Brugada syndrome.

scholarly journals Novel SCN5A mutation associated with idiopathic ventricular fibrillation due to subclinical Brugada syndrome

2011 ◽  
Vol 2 (1) ◽  
pp. 1
Author(s):  
Juan Jiménez-Jáimez ◽  
Miguel Álvarez-López ◽  
Luis Tercedor-Sánchez ◽  
Pablo Santiago ◽  
Maria Algarra ◽  
...  
Keyword(s):  
Ventricular Fibrillation ◽  
Brugada Syndrome ◽  
Idiopathic Ventricular Fibrillation ◽  
Scn5a Mutation
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