Brugada syndrome
| Brugada syndrome | |
|---|---|
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| (A) Normal electrocardiogram pattern in the precordial leads V1-3, (B) changes in Brugada syndrome (type B) | |
| Classification and external resources | |
| Specialty | Cardiology |
| ICD-10 | I49.8 |
| ICD-9-CM | 746.89 |
| OMIM | 601144 |
| DiseasesDB | 31999 |
| eMedicine | med/3736 |
| MeSH | D053840 |
Brugada syndrome (BrS) is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is named for the Spanish cardiologists Pedro Brugada, Josep Brugada and Ramon Brugada. It is the major cause of sudden unexplained death syndrome (SUDS), also known as sudden adult death syndrome (SADS), and is the most common cause of sudden death in young men without known underlying cardiac disease in Thailand and Laos.
Although the ECG findings of Brugada syndrome were first reported among survivors of cardiac arrest in 1989, it was only in 1992 that the Brugada brothers recognized it as a distinct clinical entity, causing sudden death by causing ventricular fibrillation (a potentially lethal arrhythmia) in the heart.
Approximately 20% of the cases of Brugada syndrome have been shown to be associated with mutations in a gene that encodes for a sodium ion channel in the cell membranes of the muscle cells of the heart (the myocytes); this is often referred to as a sodium channelopathy. The majority of patients affected by Brugada syndrome are not found to have known genetic mutations to explain the disease, as of 2015. The gene, named SCN5A, is located on the short arm of the third chromosome (3p21). Loss-of-function mutations in this gene lead to a loss of the action potential dome of some epicardial areas of the right ventricle. This results in transmural and epicardial dispersion of repolarization. The transmural dispersion underlies ST-segment elevation and the development of a vulnerable window across the ventricular wall, whereas the epicardial dispersion of repolarization facilitates the development of phase 2 reentry, which generates a phase 2 reentrant extrasystole that captures the vulnerable window to precipitate ventricular tachycardia and/or ventricular fibrillation that often results in sudden cardiac death. At present time however, all the reported patients who died because of the disease and were submitted to detailed autopsy study have shown a structural right ventricular pathology underlying the syndrome.
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