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Brugada Syndrome

Disease Details

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Description: Brugada syndrome is a genetic disorder that causes abnormal electrical activity within the heart, leading to potentially life-threatening arrhythmias.
Type: Brugada syndrome is typically transmitted via an autosomal dominant inheritance pattern.
Signs And Symptoms: While many of those with Brugada syndrome do not have any symptoms, Brugada syndrome may cause fainting or sudden cardiac death due to serious abnormal heart rhythms such as ventricular fibrillation or polymorphic ventricular tachycardia. Blackouts may be caused by brief abnormal heart rhythms that revert to a normal rhythm spontaneously. If a dangerous heart rhythm does not stop by itself and is left untreated, the person may have a fatal cardiac arrest. However, blackouts can occur in those with Brugada syndrome despite a normal heart rhythm due to a sudden drop in blood pressure, known as vasovagal syncope.The abnormal heart rhythms seen in Brugada syndrome often occur at rest, following a heavy meal, or even during sleep. These situations are linked to periods when the vagus nerve is activated, referred to as periods of high vagal tone. Abnormal heart rhythms may also occur during fever or following excessive alcohol. Sodium channel blocking medications, commonly used to treat cardiac arrhythmia, may also worsen the tendency to abnormal heart rhythms in patients with Brugada syndrome and should be avoided.
Prognosis: Brugada syndrome is a genetic disorder that affects the heart's rhythm and can lead to sudden cardiac arrest, especially in young adults. The prognosis for individuals with Brugada syndrome can be variable and depends largely on their symptoms and medical history. Those who have experienced symptoms such as fainting (syncope) or have suffered a cardiac arrest generally have a higher risk of adverse events, which can affect the overall prognosis.

However, with appropriate medical management, including lifestyle modifications, medications, and potentially implantable cardioverter-defibrillators (ICDs) for those at higher risk, many individuals can manage their condition effectively. Continuous monitoring and follow-up with healthcare professionals are essential to optimize outcomes and reduce the risk of life-threatening events.
Onset: Brugada syndrome typically manifests during adulthood, with the most common onset in the third or fourth decade of life. There is no specific age at which symptoms may begin to appear, and in some cases, it can remain undiagnosed until a triggering event occurs, such as a sudden cardiac arrest. Symptoms may include fainting, irregular heartbeats, and an increased risk of sudden cardiac death.
Prevalence: Brugada syndrome is a genetic disorder that affects the electrical activity of the heart and can lead to sudden cardiac death. Its prevalence varies by population, but it is estimated to occur in about 1 in 2,000 to 1 in 5,000 people worldwide. It is more common in Southeast Asian countries.
Epidemiology: Between 1 and 30 per 10,000 people are affected by Brugada syndrome. Although those affected are born with the condition, symptoms typically only begin in adulthood. While the rare cases seen in childhood are equally likely to be male or female, in adulthood symptoms occur more frequently in males than females, potentially due to the higher testosterone levels found in men.Brugada syndrome is more common in people of Asian descent and is the most common cause of sudden death in young males without known underlying cardiac disease in Thailand and Laos. In these countries Brugada syndrome is likely to be responsible for many cases of sudden unexpected nocturnal death syndrome (SUNDS). Local names vary – in the Philippines the condition has been known as Bangungut meaning "a scream followed by sudden death during sleep", while in Thailand it was known as Lai Tai, and in Japan Pokkuri. Type 1 Brugada ECG patterns are seen more frequently in Asian populations (0–0.36%) than those in Europe (0–0.25%) and the United States (0.03%). Similarly, Type 2 and Type 3 ECG patterns are more prevalent in Asia (0.12–2.23%) than in Europe (0.0–0.6%) or the United States (0.02%).
Intractability: Brugada syndrome is considered a manageable but potentially life-threatening condition. It is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death due to ventricular arrhythmias. While there is no cure, management strategies such as lifestyle modifications, medications, and implantable cardioverter-defibrillators (ICDs) can help control symptoms and reduce the risk of serious complications. Therefore, it is not entirely intractable but requires ongoing management to prevent life-threatening events.
Disease Severity: Brugada syndrome is a serious genetic condition that affects the heart's rhythm, potentially leading to sudden cardiac arrest. The severity can vary among individuals; some people may experience only mild symptoms or remain asymptomatic, while others may face life-threatening arrhythmias.
Healthcare Professionals: Disease Ontology ID - DOID:0050451
Pathophysiology: Brugada syndrome is a genetic disorder that affects the sodium channels in the heart. The pathophysiology involves mutations in the SCN5A gene, which encodes the cardiac sodium channel Nav1.5. This defect leads to abnormal electrical activity, particularly in the right ventricular outflow tract. The altered sodium channel function disrupts the normal cardiac action potential, predisposing individuals to ventricular arrhythmias and an increased risk of sudden cardiac death.
Carrier Status: Brugada syndrome is an inherited cardiac disorder characterized by an abnormal electrocardiogram (ECG) and an increased risk of sudden cardiac death due to ventricular arrhythmias. It is typically caused by mutations in the SCN5A gene and follows an autosomal dominant inheritance pattern. Individuals with one copy of the mutated gene (heterozygous carriers) can exhibit symptoms of the syndrome.

Carrier status:
- **Inheritance**: Autosomal dominant
- **Implications for carriers**: Individuals carrying one copy of the mutated gene can develop Brugada syndrome and may exhibit symptoms, including an abnormal ECG pattern and susceptibility to arrhythmias.

nan:
- This term isn't directly relevant to Brugada syndrome in the context of carrier status. If it refers to a non-applicable or not available data point, there isn't a specific detail related to "nan" for this syndrome.
Mechanism: Brugada syndrome is a genetic condition that affects the heart's rhythm and can lead to sudden cardiac death.

**Mechanism:**
Brugada syndrome is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of ventricular arrhythmias. The fundamental problem lies in the ionic currents within cardiac cells, leading to a propensity for arrhythmias. Specifically, there's a disruption in the balance between inward and outward ionic currents during the action potential, particularly affecting sodium (Na+), potassium (K+), and calcium (Ca2+) channels.

**Molecular Mechanisms:**
1. **SCN5A Gene Mutation:** The most common molecular mechanism involves mutations in the SCN5A gene, which encodes the alpha subunit of the cardiac sodium channel (NaV1.5). These mutations cause a loss of function of the sodium channel, leading to reduced inward sodium current (INa). This reduction contributes to the abnormal repolarization and conduction disturbances seen in Brugada syndrome.

2. **Other Genes:** Mutations in other genes, such as SCN1B, CACNA1C, CACNB2, and others, can also contribute to Brugada syndrome. These genes encode for various subunits of sodium, calcium, and potassium channels or proteins that modulate these channels.

3. **Imbalance in Ionic Currents:** The mutations lead to an imbalance between the early repolarizing potassium current (Ito) and the inward sodium (INa) and calcium (ICa) currents, which can cause the characteristic ECG changes (like ST-segment elevation) and create the substrate for re-entrant ventricular arrhythmias.

4. **Abnormal Brugada Phenotype:** Molecular abnormalities lead to abnormal patterns of ion channel expression and function, primarily in the right ventricular outflow tract (RVOT), which is why changes are often most evident in this region of the heart.

These disruptions in ionic currents and resulting arrhythmogenic substrate mainly predispose affected individuals to life-threatening ventricular tachyarrhythmias.
Treatment: The main aim when treating people with Brugada syndrome is to reduce the risk of sudden death due to serious abnormal heart rhythms such as ventricular fibrillation or polymorphic ventricular tachycardia. While some with this condition are at high risk of serious heart rhythm disturbances, others are at much lower risk, meaning that some may require more intensive treatment than others. In addition to treating the person who has Brugada syndrome, it is often important to investigate members of their immediate family to see if they too carry the condition.
Compassionate Use Treatment: For Brugada syndrome, treatment options under compassionate use or involving off-label and experimental treatments include:

1. **Quinidine**: This antiarrhythmic drug is sometimes used off-label to prevent ventricular arrhythmias in patients with Brugada syndrome who are at high risk but may not be suitable candidates for implantable cardioverter-defibrillators (ICDs).

2. **Isoproterenol Infusion**: In cases of electrical storms (multiple episodes of ventricular fibrillation), isoproterenol, a beta-adrenergic agonist, can be used off-label to stabilize the heart rhythm temporarily.

3. **Catheter Ablation**: This experimental approach targets the arrhythmogenic substrate in the right ventricular outflow tract to prevent ventricular arrhythmias. It's still being studied for long-term efficacy and safety in Brugada syndrome.

These treatments are considered when standard therapies, like ICD implantation, are not suitable or feasible.
Lifestyle Recommendations: Lifestyle recommendations for individuals with Brugada syndrome include:

1. **Avoiding High Fevers:** Fever can exacerbate symptoms, so it's essential to treat any fever promptly with antipyretics like acetaminophen or ibuprofen.

2. **Medication Caution:** Avoid medications known to trigger Brugada syndrome, such as certain antidepressants, antipsychotics, and anesthetics. Always consult with a healthcare provider before taking new medications.

3. **Avoiding Excessive Alcohol:** Excessive alcohol consumption can trigger Brugada syndrome symptoms.

4. **Electrolyte Balances:** Maintain normal levels of electrolytes, particularly potassium and magnesium.

5. **Regular Cardiology Check-ups:** Regular follow-ups with a cardiologist are crucial to monitor the condition and update any changes in management.

6. **Physical Activity:** Generally, individuals may continue with light to moderate exercise, but it's advisable to avoid strenuous activities without medical advice.

7. **Awareness and Emergency Planning:** Inform family members and close contacts about the condition and educate them on how to perform cardiopulmonary resuscitation (CPR) in case of a sudden cardiac event.

8. **Genetic Counseling:** Because Brugada syndrome can be hereditary, family members might consider genetic testing and counseling.

Following these lifestyle recommendations can help manage Brugada syndrome and potentially mitigate risks associated with the condition.
Medication: Quinidine is an antiarrhythmic drug that may reduce the chance of serious abnormal heart rhythms occurring in some people with Brugada syndrome. It is most frequently used in people with Brugada syndrome who have an ICD and have experienced several episodes of life-threatening arrhythmias, but may also be used in people at high risk of arrhythmias but in whom an ICD is not appropriate.Isoprenaline, a drug that has similarities with adrenaline, can be used in an emergency for people with Brugada syndrome who are having frequent repeated life-threatening arrhythmias, known as an "electrical storm". This drug must be given as a continuous infusion into a vein and therefore is not suitable for long-term use.
Repurposable Drugs: Brugada syndrome is a genetic condition that affects the heart's electrical system, leading to an increased risk of sudden cardiac death. Some repurposable drugs for managing Brugada syndrome include:

1. **Quinidine**: An antiarrhythmic medication that can help stabilize the heart's electrical activity.
2. **Isoproterenol**: Used in emergency settings for acute management, particularly in patients with electrical storm (frequent, recurrent ventricular arrhythmias).

These medications are utilized to reduce the risk of life-threatening arrhythmias in patients with Brugada syndrome.
Metabolites: There is limited specific information on the metabolites directly associated with Brugada syndrome. Brugada syndrome is primarily a genetic condition affecting the cardiac sodium channels. Research is ongoing, and specific metabolites tied directly to the disease are not well-documented at this time.
Nutraceuticals: Nutraceuticals for Brugada Syndrome have not been scientifically established as effective treatments. Brugada Syndrome is primarily managed through medical approaches like lifestyle changes, medication, and possibly an implantable cardioverter-defibrillator (ICD). Always consult a healthcare provider for proper diagnosis and treatment options.
Peptides: Brugada syndrome is a genetic disorder that affects the heart's rhythm and can lead to sudden cardiac arrest. It is caused by mutations in the SCN5A gene, which encodes a cardiac sodium channel. While research exploring peptide-based therapies and nanotechnology for Brugada syndrome is ongoing, no specific peptides or nanotechnology-based treatments are currently established for this condition. Management typically includes lifestyle modifications and the use of implantable cardioverter-defibrillators (ICDs) to prevent sudden cardiac arrest.