scholarly journals A rare case of Brugada syndrome induced by hyperglycemia

2021 ◽  
Vol 8 (2) ◽  
pp. 25-30
Author(s):  
Brandon Knopp ◽  
Bailey Pierce ◽  
Vishnu Muppala
Keyword(s):  
Cardiac Arrest ◽  
Sodium Channel ◽  
Brugada Syndrome ◽  
Genetic Disorder ◽  
Diabetic Patients ◽  
Channel Blockers ◽  
Increased Risk ◽  
Cardiac Sodium Channel ◽  
Cardiac Sodium Channels ◽  
Brugada Pattern

Brugada syndrome is a rare genetic disorder of the cardiac sodium channels associated with an increased risk of sudden cardiac death. It is characterized by an electrocardiogram (EKG) showing a right bundle branch block with an elevation in the ST segment. This condition is associated with mutations in several pathologic genes including the most notable mutation in the SCN5A gene, which encodes for a voltage-gated cardiac sodium channel. The Brugada pattern on EKG can be spontaneous but can also be induced by a variety of etiologies including fever, electrolyte abnormalities, increased vagal tone and drugs such as sodium channel blockers, calcium channel blockers, tricyclic antidepressants and alcohol. One uncommon cause of Brugada syndrome is hyperglycemia. Of particular importance in diabetic patients, hyperglycemia can induce chronic cardiovascular complications as well as acute cardiac events via the induction of the Brugada pattern on EKG. We present a case of a 21-year-old non-insulin compliant diabetic man presenting to the Emergency Department with diabetic ketoacidosis (DKA) who exhibits the Brugada pattern EKG prior to developing ventricular tachycardia followed by cardiac arrest. The patient’s condition was induced by prolonged hyperglycemia in the setting of DKA with relatively mild electrolyte and pH abnormalities. Herein, this case is presented to highlight the Brugada pattern leading to cardiac arrest as a potential consequence of hyperglycemia and inform physicians on its incidence.

Abstract 20133: Not All ST Elevations Mandate Emergent Catheterization: A Case Report of Brugada Syndrome Induced by Severe Hyponatremia

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Jasmin Martinez ◽  
Sandeep Dayanand ◽  
Mohamad Kabach ◽  
Pradeep Dayanand ◽  
Steven Borzak
Keyword(s):  
Cardiac Arrest ◽  
Cardiac Catheterization ◽  
Brugada Syndrome ◽  
Obstructive Coronary Artery Disease ◽  
Channel Blockers ◽  
Severe Hyponatremia ◽  
Chronic Alcohol Abuse ◽  
St Elevation ◽  
Work Up ◽  
Brugada Pattern

Introduction: Brugada syndrome is a rare channelopathy, which is familial or sporadic in occurrence. Typical ECG findings of Brugada pattern consist of a pseudo-right bundle branch block and persistent ST segment elevation in leads V1 to V2. While fever, stressors and sodium channel blockers have been implicated in unmasking the underlying rhythm, only 2 cases of hyponatremia precipitating Brugada Syndrome have been reported to date. Here in, we report a case of a 61 y/o woman who underwent emergent cardiac catheterization after her EKG demonstrated ST elevation in the anterior leads. Eventual work up revealed Brugada Syndrome induced by hyponatremia. Case: A 61 y/o woman with a known medical history of hyponatremia from chronic alcohol abuse was found to be unresponsive at home. EKG performed by paramedics revealed ST elevation in anterior leads. Based on the EKG and the patient’s presentation, a probable diagnosis of cardiac arrest from ischemic heart disease was made and a decision for emergent cardiac catheterization was made. Catheterization revealed, mild non-obstructive coronary artery disease. The patient was transferred to ICU for further care where she continued to remain unresponsive. Initial work up revealed severe hyponatremia, with a serum sodium of 103. The rest of her electrolytes were within normal limits. Detailed review of her presenting EKG revealed that she had “coved” pattern of ST elevation in the anterior leads. Her severe hyponatremia was corrected with hypertonic saline. Subsequent EKG’s after partial correction of hyponatremia demonstrated resolution of abnormal EKG changes. Conclusion: The patient described in this case had a cardiac arrest most likely from sustained ventricular tachycardia secondary to a brugada pattern. Hence, hyponatremia should be recognized as an important etiology in the list of causes that unmask a Brugada pattern in patients with this channelopathy.

scholarly journals Left Axis Deviation in Brugada Syndrome: Vectorcardiographic Evaluation during Ajmaline Provocation Testing Reveals Additional Depolarization Abnormalities

2021 ◽  
Vol 22 (2) ◽  
pp. 484
Author(s):  
Martijn H. van der Ree ◽  
Jeroen Vendrik ◽  
Jan A. Kors ◽  
Ahmad S. Amin ◽  
Arthur A. M. Wilde ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Brugada Syndrome ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Conduction Delay ◽  
Channel Blockers ◽  
Axis Deviation ◽  
Provocation Testing ◽  
The Right

Patients with Brugada syndrome (BrS) can show a leftward deviation of the frontal QRS-axis upon provocation with sodium channel blockers. The cause of this axis change is unclear. In this study, we aimed to determine (1) the prevalence of this left axis deviation and (2) to evaluate its cause, using the insights that could be derived from vectorcardiograms. Hence, from a large cohort of patients who underwent ajmaline provocation testing (n = 1430), we selected patients in whom a type-1 BrS-ECG was evoked (n = 345). Depolarization and repolarization parameters were analyzed for reconstructed vectorcardiograms and were compared between patients with and without a >30° leftward axis shift. We found (1) that the prevalence of a left axis deviation during provocation testing was 18% and (2) that this left axis deviation was not explained by terminal conduction slowing in the right ventricular outflow tract (4th QRS-loop quartile: +17 ± 14 ms versus +13 ± 15 ms, nonsignificant) but was associated with a more proximal conduction slowing (1st QRS-loop quartile: +12[8;18] ms versus +8[4;12] ms, p < 0.001 and 3rd QRS-loop quartile: +12 ± 10 ms versus +5 ± 7 ms, p < 0.001). There was no important heterogeneity of the action potential morphology (no difference in the ventricular gradient), but a left axis deviation did result in a discordant repolarization (spatial QRS-T angle: 122[59;147]° versus 44[25;91]°, p < 0.001). Thus, although the development of the type-1 BrS-ECG is characterized by a terminal conduction delay in the right ventricle, BrS-patients with a left axis deviation upon sodium channel blocker provocation have an additional proximal conduction slowing, which is associated with a subsequent discordant repolarization. Whether this has implications for risk stratification is still undetermined.

P1597Two novel mutations in SCN5A gene cause enhanced inactivation and lead to Brugada syndrome

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Zaytseva ◽  
A V Karpushev ◽  
A V Karpushev ◽  
Y Fomicheva ◽  
Y Fomicheva ◽  
...  
Keyword(s):  
Steady State ◽  
Sodium Channel ◽  
Brugada Syndrome ◽  
Slow Inactivation ◽  
Fast Inactivation ◽  
Novel Mutations ◽  
Patch Clamp Technique ◽  
Inactivation Curve ◽  
Voltage Gated ◽  
Cardiac Sodium Channel

Abstract Background Mutations in gene SCN5A, encoding cardiac potential-dependent sodium channel Nav1.5, are associated with various arrhythmogenic disorders among which the Brugada syndrome (BrS) and the Long QT syndrome (LQT) are the best characterized. BrS1 is associated with sodium channel dysfunction, which can be reflected by decreased current, impaired activation and enhanced inactivation. We found two novel mutations in our patients with BrS and explored their effect on fast and slow inactivation of cardiac sodium channel. Purpose The aim of this study was to investigate the effect of BrS (Y739D, L1582P) mutations on different inactivation processes in in vitro model. Methods Y739D and L1582P substitutions were introduced in SCN5A cDNA using site-directed mutagenesis. Sodium currents were recorded at room temperature in transfected HEK293-T cells using patch-clamp technique with holding potential −100 mV. In order to access the fast steady-state inactivation curve we used double-pulse protocol with 10 ms prepulses. To analyze voltage-dependence of slow inactivation we used two-pulse protocol with 10s prepulse, 20ms test pulse and 25ms interpulse at −100mV to allow recovery from fast inactivation. Electrophysiological measurements are presented as mean ±SEM. Results Y739D mutation affects highly conserved tyrosine 739 among voltage-gated sodium and calcium channels in the segment IIS2. Mutation L1582P located in the loop IVS4-S5, and leucine in this position is not conserved among voltage-gated channels superfamily. We have shown that Y739D leads to significant changes in both fast and slow inactivation, whereas L1582P enhanced slow inactivation only. Steady-state fast inactivation for Y739D was shifted on 8.9 mV towards more negative potentials compare with that for WT, while L1582P did not enhanced fast inactivation (V1/2 WT: −62.8±1.7 mV; Y739D: −71.7±2.3 mV; L1582P: −58.7±1.4 mV). Slow inactivation was increased for both substitutions (INa (+20mV)/INa (−100mV) WT: 0.45±0.03; Y739D: 0,34±0.09: L1582P: 0.38±0.04). Steady-state fast inactivation Conclusions Both mutations, observed in patients with Brugada syndrome, influence on the slow inactivation process. Enhanced fast inactivation was shown only for Y739D mutant. The more dramatic alterations in sodium channel biophysical characteristics are likely linked with mutated residue conservativity. Acknowledgement/Funding RSF #17-15-01292

Differential effects of cardiac sodium channel mutations on initiation of ventricular arrhythmias in patients with Brugada syndrome

Heart Rhythm ◽  
2009 ◽  
Vol 6 (4) ◽  
pp. 487-492 ◽  
Author(s):  
Hiroshi Morita ◽  
Satoshi Nagase ◽  
Daiji Miura ◽  
Aya Miura ◽  
Shigeki Hiramatsu ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Brugada Syndrome ◽  
Ventricular Arrhythmias ◽  
Differential Effects ◽  
Cardiac Sodium Channel

scholarly journals A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill

2004 ◽  
Vol 255 (1) ◽  
pp. 137-142 ◽  
Author(s):  
N. Takehara ◽  
N. Makita ◽  
J. Kawabe ◽  
N. Sato ◽  
Y. Kawamura ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Brugada Syndrome ◽  
Cardiac Sodium Channel ◽  
Channel Mutation ◽  
Sodium Channel Mutation

scholarly journals Sodium channel blockers in Brugada syndrome

EP Europace ◽  
2018 ◽  
Vol 20 (FI1) ◽  
pp. f139-f139
Author(s):  
Ibrahim El-Battrawy ◽  
Martin Borggrefe ◽  
Siegfried Lang ◽  
Xiaobo Zhou ◽  
Ibrahim Akin
Keyword(s):  
Sodium Channel ◽  
Brugada Syndrome ◽  
Channel Blockers ◽  
Sodium Channel Blockers

scholarly journals Lidocaine-Induced Brugada Syndrome Phenotype Linked to a Novel Double Mutation in the Cardiac Sodium Channel

2008 ◽  
Vol 103 (4) ◽  
pp. 396-404 ◽  
Author(s):  
Hector M. Barajas-Martínez ◽  
Dan Hu ◽  
Jonathan M. Cordeiro ◽  
Yuesheng Wu ◽  
Richard J. Kovacs ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Brugada Syndrome ◽  
Double Mutation ◽  
Cardiac Sodium Channel

Brugada Syndrome – Report of Familial Occurrence Diagnosed in the Emergency Department

2020 ◽  
Vol 6 (1) ◽  
pp. 17-19
Author(s):  
Mojtaba Fazel ◽  
Fatemeh Hamidi ◽  
Elham Afshari
Keyword(s):  
Emergency Department ◽  
Ventricular Fibrillation ◽  
Rare Disease ◽  
Male Patient ◽  
Brugada Syndrome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
St Segment ◽  
Increased Risk

AbstractIntroduction: Brugada syndrome represents the clinical manifestation of a rare disease with genetic etiology. The syndrome is characterized by ventricular dysrhythmias associated with syncope or sudden cardiac death in the lack of any structural cardiac disease. The diagnosis of Brugada syndrome is established if a type 1 electrocardiographic (ECG) pattern of ST-segment and QRS morphology is present, in association with certain clinical manifestations and/or familial history.Case presentation: A 31-year-old male patient, without any medical history, presented in the emergency department (ED) of a clinical center. His only complaints consisted in palpitations, chest discomfort, and emotional stress related to the recent death of his wife. Earlier on the same day, his wife, a 25-year-old female was brought via emergency medical services (EMS) to the ED after presenting ventricular fibrillation. The female patient presented a long term history of chest pain and one year prior to this episode she presented idiopathic ventricular fibrillation, for which she had undergone implantation of an automated cardioverter defibrillator. As the couple were cousins, the EMS specialist suspected the presence of a familial cardiac disorder. The electrocardiogram of the male patient revealed a coved-type ST-segment elevation of 4 mm in leads V1–V3 compatible with type 1 Brugada syndrome.Conclusion: In case of Brugada syndrome, a genetic disorder associated with increased risk of SCD, the patient's first-degree relatives should be investigated as well, in order to identify the presence of the syndrome and to prevent SCD. As the sole established effective therapeutic measure for patients diagnosed with Brugada syndrome, ICD implantation should be considered in order to decrease the risk of syncope and SCD. This case is particular because a rare disease with familial etiology was identified in both husband and wife, who were cousins.

Abstract 14602: Physical and Biophysical Coupling of the Cardiac Sodium Channel Involves 14-3-3

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Jerome C Clatot ◽  
Malcolm Hoshi ◽  
Haiyan Liu ◽  
Xiaoping Wan ◽  
Krekwit Shinlapawittayatorn ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Sodium Channels ◽  
Dominant Negative ◽  
Hek293 Cells ◽  
Alpha Subunit ◽  
Gene Encoding ◽  
Cardiac Sodium Channel ◽  
Channel Assembly ◽  
Cardiac Sodium Channels ◽  
Biophysical Interactions

Introduction: Mutations in SCN5A, the gene encoding for the cardiac sodium channel, produce alterations of the cardiac action potential that lead to life-threatening arrhythmias such as Long QT Syndrome (LQT3) and Brugada Syndrome (BrS). The conventional wisdom that sodium channels exist in complexes containing a single alpha-subunit has been challenged by the existence of dominant-negative (DN) mutations in BrS and the presence of polymorphisms that can restore trafficking and gating deficiencies of mutant channels in LQT and BrS. In fact, we have previously demonstrated that SCN5A subunits can interact with each other. Here we hypothesized that the physical and biophysical interactions between SCN5A alpha-subunits involve the partner protein 14-3-3, known to form dimers. Methods: SCN5A DN-BrS mutants and LQT3 gating deficient mutants were expressed in HEK293 cells and in commercially available iPS-derived cardiomyocytes, iCells©, in presence or absence of 14-3-3 inhibition. Resulting currents were measured using patch-clamp. Results: In order to investigate if the DN-effect seen by some BrS mutants is due to interaction of the sodium channel with the protein 14-3-3 which in turn would be involved in the alpha-alpha interaction, we expressed two different BrS DN-mutants in HEK293 cells with and without difopein, a specific 14-3-3 inhibitor. The presence of difopein abolished the DN-effect of both mutants. The DN-effect was also abolished when we mutated the putative 14-3-3 binding site on SCN5A and expressed the DN-mutants either in HEK293 cells or in iCells©. Inhibition of 14-3-3 also impaired the biophysical coupling observed in presence of SCN5A gating deficient mutants that affect either activation or inactivation of not only the mutants but also of the wild-type channel. Conclusions: Our results suggest that binding of 14-3-3 to the cardiac sodium channel alpha-subunit is involved in the alpha-alpha interaction and biophysical coupling of the channel. This study not only shifts paradigms in regards to sodium channel assembly and structure, but also puts forward the idea that physical and biophysical uncoupling of cardiac sodium channels could be a new therapy target for cardiac arrhythmias caused by SCN5A mutations.

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