Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go
Yang WuMei AiAdham Sameer A. BardeesiLunwu XuJingjing ZhengD.-H. ZhengKun YinQiuping WuLiyong ZhangLei HuangJianding Cheng
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Abstract:
Brugada syndrome (BrS) is an arrhythmogenic disorder which was first described in 1992. This disease is a channelopathy characterized by ST-segment elevations in the right precordial leads and is susceptible to sudden death. BrS is a fatal disease with gender and age preferences. It occurs mainly in young male subjects with a structurally normal heart and silently progresses to sudden death with no significant symptoms. The prevalence of BrS has been reported in the ranges of 5–20 per 10 000 people. The disease is more prevalent in Asia. Nowadays, numerous variations in 23 genes have been linked to BrS since the first gene SCN5A has been associated with BrS in 1998. Not only can clinical specialists apply these discoveries in risk assessment, diagnosis and personal medicine, but also forensic pathologists can make full use of these variations to conduct death cause identification. However, despite the progress in genetics, these associated genes can only account for approximately 35% of the BrS cases while the etiology of the remaining BrS cases is still unexplained. In this review, we discussed the prevalence, the genes associated with BrS and the application of molecular autopsy in forensic pathology. We also summarized the present obstacles, and provided a new insight into the genetic basis of BrS.Keywords:
Channelopathy
Etiology
Sudden Death
Forensic Pathology
Short QT syndrome
Brugada syndrome (BrS) is an inherited ion channel channelopathy predisposing to ventricular arrhythmias and sudden cardiac death. Originally believed to be predominantly associated with mutations in SCN5A encoding for the cardiac sodium channel, mutations of 18 genes other than SCN5A have been implicated in the pathogenesis of BrS to date. Diagnosis is based on the presence of a spontaneous or drug-induced coved-type ST segment elevation. If untreated, the irregular heartbeats even can sudden death.
Channelopathy
ST elevation
Pathogenesis
Sudden Death
Sodium channel blocker
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Brugada syndrome (BrS) is an inherited autosomal dominant genetic disorder responsible for sudden cardiac death from malignant ventricular arrhythmia. The term “channelopathy” is nowadays used to classify BrS as a purely electrical disease, mainly occurring secondarily to loss-of-function mutations in the α subunit of the cardiac sodium channel protein Nav1.5. In this setting, arrhythmic manifestations of the disease have been reported in the absence of any apparent structural heart disease or cardiomyopathy. Over the last few years, however, a consistent amount of evidence has grown in support of myocardial structural and functional abnormalities in patients with BrS. In detail, abnormal ventricular dimensions, either systolic or diastolic dysfunctions, regional wall motion abnormalities, myocardial fibrosis, and active inflammatory foci have been frequently described, pointing to alternative mechanisms of arrhythmogenesis which challenge the definition of channelopathy. The present review aims to depict the status of the art of concealed arrhythmogenic substrates in BrS, often resulting from an advanced and multimodal diagnostic workup, to foster future preclinical and clinical research in support of the cardiomyopathic nature of the disease.
Channelopathy
Myocardial fibrosis
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Channelopathy
Sudden Death
Epilepsy syndromes
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Short QT (SQTS) syndrome is a rare inherited autosomal dominant cardiac channelopathy associated with malignant ventricular and atrial arrhythmias. It is the severest form of the major channelopathies, with cardiac arrest or sudden cardiac death (SCD) as the most common presentation. We report a case of a young patient in whom ventricular fibrillation was the first manifestation of the disease.
Short QT syndrome
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Brugada Syndrome is a cardiac channelopathy closely related to lethal arrhythmias and sudden death in people without underlying structural pathology. The diagnosis is usually assumed with electrocardiographic patterns strictly limited to the right precordial leads, V1 or V2; but this is not so at all. In our article, we describe the clinical case of a patient with a novel and different electrocardiographic presentation: the typical diagnostic pattern was presented in a lower lead of the electrocardiogram, and next to it, another pattern was presented in a contiguous lead. In addition, we propose the possible association of a structural pathology (non-compaction cardiomyopathy) with Brugada Syndrome, since both share a possible common genetic origin in the SCN5A gene.
Channelopathy
Presentation (obstetrics)
Precordial examination
Sudden Death
Short QT syndrome
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Channelopathy
Review article
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Brugada syndrome (BrS) is an inherited channelopathy disease, caused by genetic changes in transmembrane ion channels. It has an increased risk of sudden cardiac death (SCD) in the absence of a structural heart disease. We report a case in which the presenting electrocardiogram (EKG) exhibited a type 1 Brugada-like pattern during an adrenal crisis with transformation into a type 2 Brugada-like pattern as the crisis improved.
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Brugada syndrome is a heterogeneous genetic channelopathy that predisposes to ventricular arrhythmias and sudden cardiac death (SCD).
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Brugada syndrome (BrS) as an established channelopathy can be unmasked by various triggers like drugs, fever, etc. Herein, we presented a female patient in whom type 1 Brugada pattern on admission electrocardiography might be unmasked by heat exhaustion.
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Heat exhaustion
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We present a patient with fever-induced Brugada syndrome, a rare cardiac disease caused by an inherited ion channelopathy and associated with malignant arrhythmias. ECG findings normalized after the fever resolved. As Brugada syndrome can be confused with anterior myocardial ischemia, right bundle branch block and intoxication with tricyclic antidepressants, ECG recognition is important. Patients with Brugada syndrome are instructed to avoid contraindicated substances, and fever should be treated aggressively.
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Bundle branch block
Tricyclic
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