scholarly journals Brugada syndrome masked by complete left bundle branch block. A clinical and functional study of its association with the p.1449Y>H SCN5A variant.

2021 ◽  
Author(s):  
Eduardo Arana-Rueda ◽  
Rosa Pezzotti ◽  
Alonso Pedrote ◽  
Juan Acosta ◽  
Manuel Frutos-López ◽  
...  
Keyword(s):  
Left Bundle Branch Block ◽  
Brugada Syndrome ◽  
Functional Study ◽  
Loss Of Function ◽  
Bundle Branch Block ◽  
Conduction Disturbances ◽  
Disease Penetrance ◽  
Functional Consequences ◽  
Patch Clamp Electrophysiology ◽  
Scn5a Gene

SCN5A gene variants are associated with both Brugada syndrome and conduction disturbances, sometimes expressing an overlapping phenotype. Functional consequences of SCN5A variants assessed by patch clamp electrophysiology are particularly beneficial for a correct pathogenic classification and are related to disease penetrance and severity. Here, we identify a novel SCN5A loss of function variant, p.1449Y>H, which presented with high penetrance and complete left bundle branch block, totally masking the typical findings on the electrocardiogram. We highlight the possibility of this overlap combination that makes impossible an electrocardiographic diagnosis and, through a functional analysis, associate the p.1449Y>H variant to SCN5A pathogenicity.

scholarly journals Brugada Syndrome: Current Practices in Diagnosis, Prognosis, and Treatment

2017 ◽  
Vol 9 ◽  
Author(s):  
Muhammad Ali
Keyword(s):  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Loss Of Function ◽  
Bundle Branch Block ◽  
Effective Measure ◽  
Cardiac Sodium Channel ◽  
Class Iib ◽  
Current Practices

<p>Brugada syndrome (BrS) is a hereditable syndrome, first reported in 1992, characterized by right bundle branch block and an uncommon form of ST-T wave elevation in the V1 and V2 leads and associated with risk of sudden cardiac death (SCD) arising from polymorphic ventricular tachyarrhythmias. BrS is an autosomal dominant inherited condition; however, more than 50% of BrS cases may be sporadic. Approximately 20% to 25% of BrS cases originate from loss of function mutations in the SCN5A cardiac sodium channel.</p><p>The diagnosis of BrS is mainly based on electrocardiogram. SCD due to ventricular fibrillation can be the first clinical presentation of BrS. The insertion of an implantable cardioverter-defibrillator remains the only approved effective measure to prevent SCD in BrS patients. Risk stratification in BrS is still challenging. Because the role of electrophysiological study (EPS) for estimating prognosis in BrS patients has been controversial, but the expert consensus published in 2013 (Priori et al, 2013) considered the performance of EPS, class IIb. Future randomized studies focused on risk stratification and the value of radiofrequency ablation in BrS patients are needed.</p><p>This review provides a succinct general overview of BrS focusing on<strong> </strong>current practices in diagnosis, prognosis, and treatment.</p>

scholarly journals Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
A. L. M. J. van der Knijff-van Dortmont ◽  
M. Dirckx ◽  
J. J. Duvekot ◽  
J. W. Roos-Hesselink ◽  
A. Gonzalez Candel ◽  
...  
Keyword(s):  
Case Report ◽  
Adverse Events ◽  
Epidural Analgesia ◽  
Brugada Syndrome ◽  
Low Dose ◽  
Gene Mutations ◽  
Pregnant Patient ◽  
Cardiac Conduction ◽  
Conduction Disturbances ◽  
Scn5a Gene

SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. In the presence of specific ECG characteristics, this mutation is called Brugada syndrome. Many drugs are associated with adverse events, making anesthesia in patients with SCN5A gene mutations or Brugada syndrome challenging. In this case report, we describe a pregnant patient with this mutation who received epidural analgesia using low dose ropivacaine and sufentanil during labour.

Intraventricular conduction disturbances

ESC CardioMed ◽  
2018 ◽  
pp. 345-358
Author(s):  
Antoni Bayés de Luna ◽  
Marcelo V. Elizari
Keyword(s):  
Left Bundle Branch Block ◽  
Clinical Implications ◽  
Bundle Branch Block ◽  
Intraventricular Conduction ◽  
Conduction Disturbances ◽  
Key Concepts ◽  
Ecg Criteria ◽  
Electrocardiogram Ecg

This chapter highlights the key concepts related to the electrocardiogram (ECG) diagnosis of intraventricular conduction disturbances, including right and left bundle branch block. In both cases, but especially in left bundle branch block, the chapter discusses the diagnosis when the block is at a proximal level and in the fascicles. This includes the ECG diagnosis of the superoanterior and inferoposterior fascicles of the left bundle (the hemiblocks). The possible diagnosis of the block of middle fibres (septal fascicle) of left bundle is briefly mentioned. Finally, the ECG criteria for the diagnosis of bifascicular and trifascicular block are described. In all cases, the most important clinical implications of each diagnosis are discussed.

Intraventricular conduction disturbances

ESC CardioMed ◽  
2018 ◽  
pp. 345-358
Author(s):  
Antoni Bayés de Luna ◽  
Marcelo V. Elizari
Keyword(s):  
Left Bundle Branch Block ◽  
Clinical Implications ◽  
Bundle Branch Block ◽  
Intraventricular Conduction ◽  
Conduction Disturbances ◽  
Key Concepts ◽  
Ecg Criteria ◽  
Electrocardiogram Ecg

This chapter highlights the key concepts related to the electrocardiogram (ECG) diagnosis of intraventricular conduction disturbances, including right and left bundle branch block. In both cases, but especially in left bundle branch block, the chapter discusses the diagnosis when the block is at a proximal level and in the fascicles. This includes the ECG diagnosis of the superoanterior and inferoposterior fascicles of the left bundle (the hemiblocks). The possible diagnosis of the block of middle fibres (septal fascicle) of left bundle is briefly mentioned. Finally, the ECG criteria for the diagnosis of bifascicular and trifascicular block are described. In all cases, the most important clinical implications of each diagnosis are discussed.

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