scholarly journals Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

2013 ◽  
Vol 45 (9) ◽  
pp. 1044-1049 ◽  
Author(s):  
Connie R Bezzina ◽  
Julien Barc ◽  
Yuka Mizusawa ◽  
Carol Ann Remme ◽  
Jean-Baptiste Gourraud ◽  
...  
Keyword(s):  
High Risk ◽  
Sudden Cardiac Death ◽  
Rare Disease ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Common Variants

scholarly journals Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

2013 ◽  
Vol 45 (11) ◽  
pp. 1409-1409 ◽  
Author(s):  
Connie R Bezzina ◽  
Julien Barc ◽  
Yuka Mizusawa ◽  
Carol Ann Remme ◽  
Jean-Baptiste Gourraud ◽  
...  
Keyword(s):  
High Risk ◽  
Sudden Cardiac Death ◽  
Rare Disease ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Common Variants

scholarly journals 217 Why it is important to recognize Brugada syndrome in athletes: a case report

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Lidia Colangelo ◽  
Maria Colangelo ◽  
Luca Stefanini
Keyword(s):  
High Risk ◽  
Sudden Cardiac Death ◽  
Effective Treatment ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Recovery Period ◽  
Young Athletes ◽  
Case Presentation ◽  
Timely Diagnosis ◽  
Increased Risk

Abstract Aims The Brugada syndrome (Brs) is an inherited disorder associated with risk of ventricular fibrillation and sudden cardiac death in a structurally normal heart. The purpose of this case presentation was to spread awareness about this condition, highlight the importance of timely diagnosis and effective treatment of this channelopathy especially in asymptomatic young athletes at high risk of sudden cardiac death. Methods and results In this report, we discuss the case of a 47-year-old male. He was a tennis player who performed a visit to the sports doctor to have issued a certificate for competitive fitness. He had no familiar history of sudden death or syncope. The patient’s electrocardiogram (ECG) revealed J-point elevation and ST-segment elevation in the right precordial leads V1 and V2 positioned in the second, third, or fourth intercostal space, showing classic type II ‘saddleback’ morphology in V2 and BrS was suspected. Hence, the patient underwent Holter ECG monitoring with evidence of spontaneous type 1 Brugada pattern (‘coved’ morphology), as well as frequent ventricular ectopic beats with left branch block morphology. Indeed, a diagnosis of BrS was made. Antiarrhythmic prophylaxis therapy with hydroquinidine was initiated and the patient was suspended from competitive activity with a 3-month follow-up. Conclusions The BrS is a hereditary disease characterized by a typical ECG pattern potentially predisposing active individuals with no patent structural heart disease to ventricular arrhythmias (VA) and sudden cardiac death (SCD). Nowadays, it is difficult to discern the true burden of BrS due to the unknown real prevalence of asymptomatic patients and the dynamic variability of the ECG pattern in individuals. The purpose of this case presentation was to spread awareness about this condition, highlight the importance of timely diagnosis, and effective treatment of this channelopathy especially in asymptomatic young athletes at high risk of SCD. Indeed, exercise may potentially worsen the ECG abnormalities in BrS patients, resulting in higher peak J-point amplitudes during the vasovagal reaction of the recovery period, possibly leading to an increased risk of cardiac events. Moreover, the enhanced vagal tone in athletes could be both a BrS risk factor and an exercise effect. For this reason, athletic pre-participation screening is essential for minimizing the risk for SCD in athletes participating in either competitive or leisure sporting activities.

scholarly journals Risk Stratification in Brugada Syndrome: Current Status and Emerging Approaches

2018 ◽  
Vol 7 (2) ◽  
pp. 79 ◽  
Author(s):  
Shohreh Honarbakhsh ◽  
Rui Providencia ◽  
Pier D Lambiase ◽  
◽  
◽  
...  
Keyword(s):  
High Risk ◽  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Right Ventricular Outflow Tract ◽  
Current Status ◽  
Drug Induced ◽  
Increased Risk

Brugada syndrome (BrS) is one of the most common inherited channelopathies associated with an increased risk of sudden cardiac death. Appropriate use of an ICD in high-risk patients is life-saving. However, there remains a lack of consensus on risk stratification, and even on the diagnosis of BrS itself. Some argue that people with a type 1 Brugada ECG pattern but no symptoms should not be diagnosed with BrS, and guidelines recommend observation without therapy in these patients. Others argue that the presence of a spontaneous (rather than drug-induced) type 1 ECG pattern alone is enough to label them as high-risk for arrhythmic events, particularly if syncope is also present. Syncope and a spontaneous type 1 ECG pattern are the only factors that have consistently been shown to predict ventricular arrhythmic events and sudden cardiac death. Other markers have yielded conflicting data. However, in combination they may have roles in risk scoring models. Epicardial catheter ablation in the right ventricular outflow tract has shown promise in studies as an alternative management option to an ICD, but longer follow-up is required to ensure that the ablation effect is permanent.

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.

Sudden Cardiac Death in Brugada Syndrome

2019 ◽  
Vol 28 (4) ◽  
pp. 203-207
Author(s):  
Nitin Kabra ◽  
Rahul Gupta ◽  
Wilbert S. Aronow ◽  
William H. Frishman
Keyword(s):  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death

Secondary prevention of sudden cardiac death in ischaemic cardiomyopathy

ESC CardioMed ◽  
2018 ◽  
pp. 2337-2341
Author(s):  
Jens Cosedis Nielsen ◽  
Jens Kristensen
Keyword(s):  
Heart Failure ◽  
Cardiac Arrest ◽  
Heart Disease ◽  
High Risk ◽  
Sudden Cardiac Death ◽  
Secondary Prevention ◽  
Cardiac Death ◽  
Cardioverter Defibrillator ◽  
Ischaemic Cardiomyopathy ◽  
Life Threatening

The most common reason for sudden cardiac death is ischaemic heart disease. Patients who survive cardiac arrest are at particularly high risk of recurrent ventricular arrhythmia and sudden cardiac death, and are candidates for secondary prevention defined as ‘therapies to reduce the risk of sudden cardiac death in patients who have already experienced an aborted cardiac arrest or life-threatening arrhythmias’. The mainstay therapy for secondary prevention of sudden cardiac death is implantation of an implantable cardioverter defibrillator. Furthermore, revascularization and optimal medical therapy for heart failure and concurrent cardiovascular diseases should be ensured.

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