Brugada syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Brugada syndrome | |
|---|---|
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Syncope, sudden cardiac death |
| Complications | N/A |
| Onset | Typically in adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations, primarily in the SCN5A gene |
| Risks | Family history, male gender, fever |
| Diagnosis | Electrocardiogram (ECG), genetic testing |
| Differential diagnosis | Long QT syndrome, arrhythmogenic right ventricular dysplasia |
| Prevention | Avoidance of certain medications, treatment of fever |
| Treatment | Implantable cardioverter-defibrillator (ICD), medication |
| Medication | N/A |
| Prognosis | Variable, risk of sudden death |
| Frequency | 1 in 5,000 to 10,000 people |
| Deaths | N/A |
Brugada Syndrome
Brugada syndrome is a genetic disorder that results in abnormal electrical activity within the heart, leading to an increased risk of sudden cardiac death. It is characterized by a specific pattern on an electrocardiogram (ECG) and is often associated with ventricular fibrillation.
Epidemiology
Brugada syndrome is more prevalent in certain populations, particularly in Southeast Asia. It is estimated to affect 1 in 2,000 people worldwide. The condition is more common in males than females, with a male-to-female ratio of approximately 8:1.
Genetics
Brugada syndrome is primarily inherited in an autosomal dominant manner. Mutations in the SCN5A gene, which encodes the cardiac sodium channel, are the most common genetic cause. However, mutations in other genes such as CACNA1C, CACNB2, and SCN1B have also been implicated.
Pathophysiology
The hallmark of Brugada syndrome is the disruption of the normal electrical activity of the heart, particularly in the right ventricular outflow tract. This disruption is often due to a loss of function in the sodium channels, leading to a predisposition to ventricular arrhythmias.
Clinical Presentation
Patients with Brugada syndrome may be asymptomatic or present with symptoms such as:
- Syncope
- Palpitations
- Sudden cardiac arrest
The condition is often diagnosed after a family member experiences sudden cardiac death or during an evaluation for syncope.
Diagnosis
The diagnosis of Brugada syndrome is primarily based on the characteristic ECG findings, which include:
- Coved-type ST-segment elevation in the right precordial leads (V1-V3)
A provocative test with sodium channel blockers such as ajmaline or flecainide may be used to unmask the ECG pattern in suspected cases.
Management
The management of Brugada syndrome focuses on preventing sudden cardiac death. Treatment options include:
- Implantable cardioverter-defibrillator (ICD) for high-risk patients
- Avoidance of drugs that can exacerbate the condition
- Lifestyle modifications, such as avoiding excessive alcohol and fever management
Prognosis
The prognosis of Brugada syndrome varies depending on the presence of symptoms and the risk of arrhythmias. Asymptomatic individuals with a normal ECG have a lower risk of sudden cardiac death compared to those with a history of syncope or documented ventricular arrhythmias.
Gallery
Brugada syndrome ECGs
Wavebreak and re-entry as a mechanism of arrhythmias
Brugada
Brugada syndrome type 1 example 1
Brugada syndrome type 2 example 1
AICD
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See Also
External Links
- [Brugada Syndrome Foundation](https://www.brugada.org)
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| Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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Contributors: Prab R. Tumpati, MD
