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

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.

2020 ◽  
Vol 4 (2) ◽  
pp. 251-254
Author(s):  
Alexander Nguyen ◽  
Mario Flores ◽  
Vilmogil Tano

Introduction: Brugada syndrome is a genetic disorder of the heart’s electrical system that increases a patient’s risk of sudden cardiac death. It is a syndrome most prevalent in Southeast Asians and is found 36 times more commonly in Asians than in Hispanics. Case Report: We report and discuss a case of a 68-year-old Hispanic male who presented with clinical and electrocardiogram abnormalities consistent with Brugada syndrome. Discussion: The patient’s age and ethnicity represents an atypical presentation of this rare syndrome and the lack of reported studies in the literature pertaining to these demographics reflect this. Conclusion: Further studies and characterizations are necessary as manifestations continue to be unearthed. As such, Brugada Syndrome should be considered in the differential diagnosis for a myriad of patient populations.


Cardiology ◽  
2020 ◽  
Vol 145 (7) ◽  
pp. 413-420
Author(s):  
Rafi Sakhi ◽  
Amira Assaf ◽  
Dominic A.M.J. Theuns ◽  
Judith M.A. Verhagen ◽  
Tamas Szili-Torok ◽  
...  

Introduction: There is limited data on the experience with insertable cardiac monitors (ICMs) in patients with Brugada syndrome. Objective: To evaluate the outcome of ICM in symptomatic patients with Brugada syndrome who are at suspected low risk of sudden cardiac death (SCD). Methods: We conducted a prospective single-center cohort study including all symptomatic patients with Brugada syndrome who received an ICM (Reveal LINQ) between July 2014 and October 2019. The main indication for monitoring was to exclude ventricular arrhythmias as the cause of symptoms and to establish a symptom-rhythm relationship. Results: A total of 20 patients (mean age, 39 ± 12 years; 55% male) received an ICM during the study period. Nine patients (45%) had a history of syncope (presumed nonarrhythmogenic), and 5 patients had a recent syncope (<6 months). During a median follow-up of 32 months (interquartile range, 11–36 months), 3 patients (15%) experienced an episode of nonsustained ventricular arrhythmia. No patient died suddenly or experienced a sustained ventricular arrhythmia, and no patient had a recurrence of syncope. Overall, 17 patients (85%) experienced symptoms during follow-up, of whom 10 patients had an ICM-detected arrhythmia. In 4 patients (20%), the ICM-detected arrhythmia was an actionable event. ICM-guided management included antiarrhythmic drug therapy for symptomatic ectopic beats (n = 3), pulmonary vein isolation, and oral anticoagulation for atrial fibrillation (n = 1), electrophysiological study for risk stratification (n = 1), and pacemaker implantation for atrioventricular block (n = 1). Conclusions: An ICM can be used to exclude ventricular arrhythmias in symptomatic patients with Brugada syndrome at low risk of SCD. Furthermore, an ICM-detected arrhythmia changed clinical management in 20% of patients.


EP Europace ◽  
2021 ◽  
Vol 23 (Supplement_3) ◽  
Author(s):  
L Leoni ◽  
A Elhyka ◽  
S Ferretto ◽  
J Fumanelli ◽  
A Cerutti ◽  
...  

Abstract Funding Acknowledgements Type of funding sources: None. Background The 12-lead electrocardiogram (ECG) is an instrument that can identify cardiac conduction system abnormalities that predispose to sudden cardiac death (SCD) in completely asymptomatic subjects. The rate of sudden cardiac death in pediatric age is estimated to be around 1-1.5 cases per 100.000 individuals, and 10-15% of events occur during physical activity. We evaluated the importance of the electrocardiogram performed in pediatric age in the early detection of asymptomatic electrocardiographic alterations, suggestive for the presence of electrical or structural heart disease potentially at risk for sudden death. Materials and Methods We analyzed 623 patients between 0 and 16 years of age who were sent to the second level pediatric arrhythmology clinic in Padua Hospital between October 2013 and March 2020. The patients were redirected at our clinic after a first finding of electrocardiographic alterations, following ECG performed before the beginning of sport activity, suspected of life-threatening pathologies. The following parameters were evaluated of all patients: clinical suspect of sending the pediatric arrhythmology clinic and electrocardiogram. Then, depending on the type of pathology suspected, the following diagnostic tests were carried out to confirm the clinical suspicion, and if confirmed, to carry out an adequate risk stratification: Holter ECG, ergometric Results Among the evaluated population (623 patients), 393 patients (63%) were sent to the pediatric arrhythmology clinic by sports medicine, 179 (29%) were sent by clinical o family pediatrician, and 51 patients (8%) were sent after ECG performed at hospital facilities for familiarity. The majority, 280 patients (45%), were sent for suspected WPW; 124 patients (20%) were sent for BEV and suspected ARVD; 85 patients (14%) for suspected long QT, 31 patients (5%) for suspected Brugada Pattern; 7 patients (1%) suspected CPVT; 8 patients (1%) for electrocardiographic changes with suspected HCM; 1 patient (0.01%) suspected shortened QT, and 88 patients (14%) for other arrhythmic disorders not at risk of sudden death. The diagnosis of WPW was confirmed in 280 patients, LQTS in 45 patients, SQTS in 1 patient, S. di Brugada in 8 patients, CPVT in 5 patients, HCM in 8 patients and ARVD in 6 patients. Conclusions Our study shows that the electrocardiographic screening already in pediatric age allows the diagnosis and subsequent early treatment of life-threatening arrhythmic heart diseases.


2005 ◽  
Vol 33 (2) ◽  
pp. 266-270 ◽  
Author(s):  
B. Bigwood ◽  
D. Galler ◽  
N. Amir ◽  
W. Smith

The Brugada syndrome, a pro-arrhythmogenic repolarization abnormality, is becoming increasingly recognised as a cause of collapse and sudden cardiac death3. We report a case of a 48-year-old man with a tricyclic overdose and a delayed presentation of the Brugada pattern in the ICU. This case raises the need for clinicians to be aware of the Brugada pattern and those patients potentially at risk.


2020 ◽  
Vol 3 (2) ◽  
pp. 70-73
Author(s):  
Juwairiya Syed Iqbaluddin ◽  
Fathima Murthuza ◽  
Sumaiya Iqbal

Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death. BrS can be diagnosed by characteristic electrocardiogram (ECG) findings and significant events, such as syncope, palpitations, nocturnal respiratory agonia, and family history of sudden cardiac death below the age of 45 years. Special investigations, such as electrophysiology study, ajmaline provocation test, and genetic testing, play an important role in its diagnosis. This case report describes a patient who presented with chest pain and dizziness along with a positive family history of sudden cardiac deaths below the age of 45 years. He was discovered to have type 2 Brugada pattern on ECG, and by ajmaline provocation test, the type 1 pattern was unmasked, which established a definitive diagnosis of BrS. The patient was then advised for an implantable cardioverter-defibrillator. This case highlights the need for physicians to be competent in identifying patients with BrS in order to provide the necessary management and prevent fatal outcomes.


2007 ◽  
Vol 30 (4) ◽  
pp. 50
Author(s):  
M. A. Nault ◽  
A. Baranchuk ◽  
C. S. Simpson ◽  
D. P. Redfearn ◽  
H. Abdollah

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.


Author(s):  
R. Singla ◽  
A. Udyavar ◽  
A. Gupta ◽  
A. Bade ◽  
K. Munde ◽  
...  

The present case series discuss three patients who had brugada type 2/ type 3 like ECG pattern that was converted to type 1 pattern with oral flecanide challenge test. Brugada syndrome is associated with a high incidence of sudden cardiac death,   typical ECG pattern being ST-segment elevation in the right precordial leads with T wave inversion. Pharmacological provocation should only be performed when the baseline ECG is not diagnostic of Brugada Syndrome. PR prolongation in the baseline ECG is also a contraindication because of the risk of inducing AV block. Drug challenge is performed under strict monitoring of BP and 12-lead ECG and facilities for cardio version and resuscitation are available. Atypical RBBB pattern/type 2/3 Brugada pattern on ECG in patients of syncope or family history of sudden cardiac arrest is commonly encountered by a cardiologist. This can be performed to provoke type 1 brugada pattern on ECG. Diagnosed cases of Brugada may be treated with ICD with proper indication if needed and thus prevent sudden cardiac death.


2021 ◽  
Vol 22 (12) ◽  
pp. 6513
Author(s):  
Cristina Balla ◽  
Elena Conte ◽  
Rita Selvatici ◽  
Renè Massimiliano Marsano ◽  
Andrea Gerbino ◽  
...  

Background. Brugada syndrome (BrS) is an autosomal dominantly inherited cardiac disease characterized by “coved type” ST-segment elevation in the right precordial leads, high susceptibility to ventricular arrhythmia and a family history of sudden cardiac death. The SCN5A gene, encoding for the cardiac voltage-gated sodium channel Nav1.5, accounts for ~20–30% of BrS cases and is considered clinically relevant. Methods. Here, we describe the clinical findings of two Italian families affected by BrS and provide the functional characterization of two novel SCN5A mutations, the missense variant Pro1310Leu and the in-frame insertion Gly1687_Ile1688insGlyArg. Results. Despite being clinically different, both patients have a family history of sudden cardiac death and had history of arrhythmic events. The Pro1310Leu mutation significantly reduced peak sodium current density without affecting channel membrane localization. Changes in the gating properties of expressed Pro1310Leu channel likely account for the loss-of-function phenotype. On the other hand, Gly1687_Ile1688insGlyArg channel, identified in a female patient, yielded a nearly undetectable sodium current. Following mexiletine incubation, the Gly1687_Ile1688insGlyArg channel showed detectable, albeit very small, currents and biophysical properties similar to those of the Nav1.5 wild-type channel. Conclusions. Overall, our results suggest that the degree of loss-of-function shown by the two Nav1.5 mutant channels correlates with the aggressive clinical phenotype of the two probands. This genotype-phenotype correlation is fundamental to set out appropriate therapeutical intervention.


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