scholarly journals Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

2019 ◽  
Vol 20 (19) ◽  
pp. 4920 ◽  
Author(s):  
Emanuele Micaglio ◽  
Michelle Monasky ◽  
Nicoletta Resta ◽  
Rosanna Bagnulo ◽  
Giuseppe Ciconte ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Cardiac Death ◽  
St Segment Elevation ◽  
Functional Studies ◽  
St Segment ◽  
Increased Risk ◽  
Heterozygous Variant ◽  
Number Of Genes ◽  
Molecular Effects ◽  
Scn5a Gene

Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the SCN5A gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of the cases, with the remaining cases being attributed to variants in any of a number of genes. Before research models can be developed, it is imperative to understand the genetics in patients. Even data from humans is complicated, since variants in the most common gene in BrS, SCN5A, are associated with a number of pathologies, or could even be considered benign, depending on the variant. Here, we provide crucial human data on a novel NM_198056.2:c.2091G>A (p.Trp697X) point-nonsense heterozygous variant in the SCN5A gene, as well as its segregation with BrS. The results herein suggest a pathogenic effect of this variant. These results could be used as a stepping stone for functional studies to better understand the molecular effects of this variant in BrS.

scholarly journals Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene

2019 ◽  
Vol 20 (22) ◽  
pp. 5522 ◽  
Author(s):  
Michelle Monasky ◽  
Emanuele Micaglio ◽  
Daniela Giachino ◽  
Giuseppe Ciconte ◽  
Luigi Giannelli ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Large Family ◽  
The Novel ◽  
St Segment Elevation ◽  
Functional Studies ◽  
St Segment ◽  
Increased Risk ◽  
Heterozygous Variant ◽  
Molecular Effects ◽  
Scn5a Gene

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the SCN5A gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the SCN5A gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.

scholarly journals Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome

2020 ◽  
Vol 21 (16) ◽  
pp. 5902
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Valeria Borrelli ◽  
Luigi Giannelli ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Current Knowledge ◽  
Clinical Genetics ◽  
The Novel ◽  
Functional Studies ◽  
St Segment ◽  
Heterozygous Variant ◽  
Causative Effect ◽  
Scn5a Gene ◽  
Wide Potential

Brugada syndrome (BrS) is diagnosed by the presence of an elevated ST-segment and can result in sudden cardiac death. The most commonly found mutated gene is SCN5A, which some argue is the only gene that has been definitively confirmed to cause BrS, while the potential causative effect of other genes is still under debate. While the issue of BrS genetics is currently a hot topic, current knowledge is not able to result in molecular confirmation of over half of BrS cases. Therefore, it is difficult to develop research models with wide potential. Instead, the clinical genetics first need to be better understood. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.4285G>A (p.Val1429Met) in the SCN5A gene, and demonstrate its segregation with BrS, suggesting a pathogenic effect. These results provide the first disease association with this variant and are crucial clinical data to communicate to basic scientists, who could perform functional studies to better understand the molecular effects of this clinically-relevant variant in BrS.

scholarly journals Electrocardiographic Changes in Athletes of Black Ethnicity

2018 ◽  
Vol 13 ◽  
Author(s):  
Dillan Ismail ◽  
Anders Eriksson ◽  
Stellan Mörner ◽  
Annika Rydberg
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Heart Diseases ◽  
Cardiac Events ◽  
St Segment Elevation ◽  
Positive Effects ◽  
African Heritage ◽  
St Segment ◽  
Increased Risk ◽  
Electrocardiographic Changes

AbstractIntensive participation in sport has positive physiological effects on the heart. The contractility of the heart improves, the ejection fraction increases and the muscle mass of the heart increases, thus leading to a greater cardiac output. Despite these positive effects, there is still an increased risk for acute cardiac events. The workload of the heart can be very high in some sports and may in some cases be the reason for sudden cardiac death. In these cases, there is often an underlying heart disease (cardiomyopathy) unknown before the actual event. Electrocardiographic examination (ECG) may reveal some of these diseases but although ECG examinations can be a useful tool to discover pathological conditions, there could be difficulties in interpreting different ECG patterns, especially in athletes. In some cases, athletes may exhibit ECG patterns that are similar to those in heart diseases such as cardiomyopathies (QRS-amplitudes, ST-segment elevation and T wave inversions in lateral leads).  This pattern is even more common in athletes of African origins. Furthermore, cardiomyopathies such as hypertrophic cardiomyopathy (HCM) are more common among athletes with African heritage than in white athletes. Thus correct interpretation of ECG is crucial for several reasons: to distinguish between benign physiological (‘athlete’s heart’) and pathological changes, to lower the risk of sudden cardiac death, and to save time and money by not undertaking further examination of the heart.

44. Publication history of the Brugada Syndrome: Did labeling stimulate research?

2007 ◽  
Vol 30 (4) ◽  
pp. 50
Author(s):  
M. A. Nault ◽  
A. Baranchuk ◽  
C. S. Simpson ◽  
D. P. Redfearn ◽  
H. Abdollah
Keyword(s):  
Sudden Cardiac Death ◽  
Right Bundle Branch Block ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Young Men ◽  
Bundle Branch Block ◽  
St Segment Elevation ◽  
Publication History ◽  
St Segment ◽  
History Of

Sudden cardiac death (SCD) in healthy young men was first recognized in 1917. Combined with an electrocardiographic (ECG) abnormality reported in 1953, the resulting syndrome would by 1996 eventually be recognized worldwide as Brugada Syndrome (BrS). There is evidence that “labeling” (i.e. the process of naming a disease state or ascribing a diagnosis) alters perceptions, awareness and behaviours in medicine. Our objective was to determine whether naming a cluster of signs and symptoms as a specific syndrome raised attention given to a previously recognized though poorly defined condition as evidenced through an increase in publications. We hypothesized that naming BrS resulted in such a “labeling” stimulus. A systematic review of the Pubmed database of indexed journals was performed to identify references to BrS between 1950 and 2006. Search terms were: “Brugada Syndrome”; “Sudden Cardiac Death AND Right Bundle Branch Block”; “Bangungot” (Filipino); “Bangungut” (Filipino); “Pok kuri” (Japanese); “Lai tai” (Thai); “Sudden Unexplained Death Syndrome”; and “SUNDS”. Publications identified after 1996 by search strategies other than “Brugada Syndrome” were omitted to avoid double counting. The search resulted in 1,042 citations. Of these, 208 occurred after 1996 and were omitted, leaving a total of 834 citations to be analyzed. Between 1950 and 1993 a total of 32 publications met the above search criteria. Thereafter, publication rate on this topic increased exponentially from 16 articles in 1994-1995 to 290 in 2005-2006. Though numerous articles recognized either RBBB-like ECG pattern, ST segment elevation or SCD in otherwise healthy young men, it was not until publication of the 1992 Brugada and Brugada paper that the coexistence of these two conditions was recognized as a syndrome. Rising interest, as identified by publication frequency, preceded the naming of this syndrome by 4 years. This finding suggests that factors other than labeling have also contributed to the publication history of BrS. Osher H, Wolff L. Electrocardiographic pattern simulating acute myocardial injury. Am J Med Sci 1953; 226:541-5. Brugada P, Brugada J. Right bundle branch block, persisting ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. J Am Coll Cardiol 1992; 20:1391-6. Yan G-X, Antzelevitch C. Cellular basis for the electrocardiographic J wave. Circulation 1996; 93:372-9.

scholarly journals Fever Unmasked Brugada Syndrome in Pediatric Patient: A Case Report

2020 ◽  
Vol 4 (2) ◽  
pp. 244-246
Author(s):  
Orhay Mirzapolos ◽  
Perry Marshall ◽  
April Brill
Keyword(s):  
Emergency Medicine ◽  
Case Report ◽  
Brugada Syndrome ◽  
Ventricular Arrhythmias ◽  
Cardiac Monitoring ◽  
St Segment Elevation ◽  
Cardioverter Defibrillator ◽  
St Segment ◽  
Viral Illness ◽  
Automatic Implantable Cardioverter Defibrillator

Introduction: Brugada syndrome is an arrhythmogenic disorder that is a known cause of sudden cardiac death. It is characterized by a pattern of ST segment elevation in the precordial leads on an electrocardiogram (EKG) due to a sodium channelopathy. Case Report: This case report highlights the case of a five-year-old female who presented to the emergency department with a febrile viral illness and had an EKG consistent with Brugada syndrome. Discussion: Fever is known to accentuate or unmask EKG changes associated with Brugada due to temperature sensitivity of the sodium channels. Conclusion: Febrile patients with Brugada are at particular risk for fatal ventricular arrhythmias and fevers should be treated aggressively by the emergency medicine provider. Emergency medicine providers should also consider admitting febrile patients with Brugada syndrome who do not have an automatic implantable cardioverter-defibrillator for cardiac monitoring.

Brugada Syndrome: Fatal Consequences of a Must-Not-Miss Diagnosis

2021 ◽  
Vol 41 (5) ◽  
pp. 15-22
Author(s):  
L. Douglas Smith ◽  
Sarah Gast ◽  
Danielle F. Guy
Keyword(s):  
At Risk ◽  
Critical Care ◽  
Sudden Cardiac Death ◽  
Ventricular Arrhythmia ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Lifestyle Modification ◽  
Genetic Disorder ◽  
Cardiac Conduction ◽  
St Segment Elevation

Background Brugada syndrome is a genetic disorder of cardiac conduction that predisposes patients to spontaneous ventricular arrhythmia and sudden cardiac death. Although Brugada syndrome is one of the most common causes of sudden cardiac death, patients presenting with the syndrome often go misdiagnosed. This error has potentially fatal consequences for patients, who are at risk for sudden cardiac death without appropriate management. Objective To increase the critical care professional’s knowledge of Brugada syndrome through detailed description of the characteristic electrocardiographic findings, an algorithmic approach to electrocardiogram evaluation, and a case report of a patient with a previously missed diagnosis of Brugada syndrome. The essential concepts of epidemiology, pathophysiology, clinical presentation, risk stratification, and management are reviewed for critical care professionals who may encounter patients with the syndrome. Diagnosis Patients typically present with syncope or cardiac arrest and an abnormal electrocardiographic finding of ST-segment elevation in the precordial leads. The diagnosis of Brugada syndrome centers on identification of its electrocardiographic characteristics by critical care professionals who routinely evaluate electrocardiograms. Critical care professionals, especially nurses and advanced practice nurses, should be proficient in recognizing the electrocardiographic appearance of Brugada syndrome and initiating appropriate management. Interventions Management strategies include prevention of sudden cardiac death through lifestyle modification and placement of an implantable cardioverter-defibrillator. Critical care professionals should be aware of commonly used medications that may exacerbate ventricular arrhythmia and place patients at risk for sudden cardiac death. Conclusion Increased awareness of Brugada syndrome among critical care professionals can decrease patient morbidity and mortality.

scholarly journals Genetic and biophysical basis for bupivacaine-induced ST segment elevation and VT/VF. Anesthesia unmasked Brugada syndrome

Heart Rhythm ◽  
2006 ◽  
Vol 3 (9) ◽  
pp. 1074-1078 ◽  
Author(s):  
Kevin Vernooy ◽  
Serge Sicouri ◽  
Robert Dumaine ◽  
Kui Hong ◽  
Antonio Oliva ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
St Segment Elevation ◽  
St Segment

scholarly journals Sudden Cause of Cardiac Death—Be Aware of Me: A Case Report and Short Review on Brugada Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Jagadeesh K. Kalavakunta ◽  
Vishwaroop Bantu ◽  
Hemasri Tokala ◽  
Mihas Kodenchery
Keyword(s):  
Brugada Syndrome ◽  
Past History ◽  
Short Review ◽  
Case Presentation ◽  
St Segment Elevation ◽  
First Case ◽  
St Segment ◽  
The Right ◽  
Malignant Arrhythmias

Introduction. Brugada syndrome accounts for about 4% of sudden cardiac deaths (SCD). It is characterized by an ST-segment elevation in the right precordial electrocardiogram (EKG) leads.Case Presentation. We describe a 39-year-old healthy Caucasian man who was admitted to the intensive care unit after being cardioverted from ventricular fibrillation (VF) arrest. His past history was significant for an episode of syncope one month prior to this presentation for which he was admitted to an outlying hospital. EKG during that admission showed ST elevations in V1 and V2 leads, a pattern similar to Type 1 Brugada. A diagnosis of Brugada syndrome was missed and the patient had a cardiac arrest a month later. We discuss a short review of Brugada syndrome and emphasize the need to look for it in patients presenting with SCD and malignant arrhythmias.Conclusion. Physicians should always consider Brugada syndrome in the differential diagnosis of ST-segment elevation in anterior precordial leads of EKG and associated VT/VF. Although more than 17 years have passed since the first case was reported, increased awareness of this syndrome is needed to identify patients with EKG changes and treat them accordingly to prevent incidence of (SCD) and its deleterious complications.

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