What is Brugada Syndrome?

Genetic inheritance is the process by which parents convey traits or qualities to their offspring. Additionally, some illnesses and ailments can be inherited and passed along. One such condition is the Brugada syndrome. Most people don't realise they have it until they are in their 30s or 40s, despite knowing it is an acquired feature.

A rare illness called Brugada syndrome results in an irregular cardiac rhythm in your heart's lower chambers (ventricles). Syncope (fainting) and sudden cardiac death (SCD) can also result from this irregular heartbeat. It occurs while you are resting or asleep.

The most effective course of treatment can be chosen with the help of a deeper understanding of the illness. You can gain proper knowledge for improved comprehension through this piece of writing.

Overview

An irregular heartbeat (arrhythmia) can develop from Brugada syndrome, a genetic condition that affects the heart's electrical function. When your heart is healthy, specific cells in the right upper chamber (right atrium) produce electrical signals that cause each heartbeat to occur. It develops when these cells' tiny channels, responsible for moving sodium, cause malfunction. The heart's lower chambers (ventricles) can beat so quickly (ventricular tachycardia or ventricular fibrillation) that the heart cannot pump the blood necessary for the brain to function correctly. This deficiency can result in periods of aberrant electrical activity. Arrhythmia events can happen rapidly, resulting in fainting or occasionally cardiac arrest and instantaneous death.

Spanish cardiologists Josep and Pedro Brugada gave the illness its name when they first described it as a separate clinical syndrome in 1992. Ramon Brugada uncovered the genetic foundation of Brugada syndrome in 1998.^1,2

Asian-descent individuals are substantially more likely to experience this illness, notably in Southeast Asian and Japanese communities. Brugada syndrome affects both sexes, but it seems to afflict people assigned male at birth (AMAB) 8 to 10 times more frequently than people assigned female at birth (AFAB). The disparity may be explained by testosterone, a sex hormone found in significantly larger concentrations in people AMAB. Brugada syndrome can arise at any time during childhood, but it usually shows up as you get older. From early childhood to late adulthood, arrhythmia-related symptoms and indications might manifest. Sudden deaths usually happen around the age of 40. Sudden infant death syndrome (SIDS), the primary cause of infant mortality under one year of age, may have a role in this disorder's explanation. Sudden cardiac arrest in young people, usually when they're peacefully sleeping at night, is a defining feature of the condition known as Sudden Unexplained Nocturnal Death Syndrome (SUNDS). SUNDS and Brugada syndrome are the same conditions, according to research.³

Causes of brugada syndrome

Brugada syndrome is a result of genetic changes in one or more genes. In roughly 30% of those affected, SCN5A is the gene that is frequently changed. The sodium channels that generally carry positively charged sodium atoms (ions) into heart muscle cells are generated with the help of the instructions provided by this gene. This particular type of ion channel is essential for maintaining the heart's regular rhythm. SCN5A gene mutations that alter the structure or function of the channel cause a decrease in sodium ion entrance into cells. The irregular cardiac rhythm characteristic of Brugada syndrome tends to be caused by an imbalance in ion transport.

Brugada syndrome may arise from mutations in other genes. The cumulative effect of all of these extra genetic defects results in less than 2% of cases of the condition. Other Brugada syndrome-related genes provide instructions for making proteins that ensure sodium channels' correct location or functionality in cardiac muscle cells. Calcium and potassium channels in the heart muscle also work effectively to maintain a regular heartbeat, similarly to sodium channels. 

One mutated copy of the gene in each cell is sufficient for advancement in the ailment as this condition is inherited in an autosomal dominant manner. An affected person typically has one parent who also has the disease. New variations in genes could cause additional cases. Individuals in such situations don't have a family association with the condition.³

 Signs and symptoms of Brugada Syndrome

   Brugada syndrome symptoms can appear at any age and include:

• Ventricular arrhythmia 
• Fainting (Syncope)
• Dizziness
• Breathing difficulties
• Seizures
• Heart palpitations
• Atrial fibrillation 
• Cardiac arrest could be the initial sign of Brugada syndrome and the cause of some infants and children passing away while they were asleep.

Numerous additional illnesses share symptoms with Brugada syndrome. It's crucial to visit a doctor to determine the cause of your symptoms. More than 70% of Brugada syndrome sufferers are symptom-free.⁴

Management and treatment for brugada syndrome

This condition has no known cure, although taking certain precautions may reduce the likelihood of side effects.

Medications

The most frequently prescribed drug for treating Brugada syndrome is Quinidine. It is an antiarrhythmic medication that aids in restoring normal heart electrical activity. Quinidine is frequently used as a long-term treatment to lower the risk of arrhythmias. It also plays a crucial supporting role in patients who experience electrical storms.

An effective beta-adrenergic agonist for preventing arrhythmias, isoproterenol can be utilised in emergencies or at times of high risk. Both the heart rate and the electrical conduction system are stabilised by it.

Mexiletine, flecainide, or propafenone are some examples of alternative drugs that may be used in some circumstances, especially if quinidine is not well tolerated or is ineffective. Ablation is one therapy option that has shown promise in managing ventricular arrhythmias in patients with electrical storms.^5,6

Therapy

The cornerstone of Brugada syndrome patients' treatment is an implanted cardioverter-defibrillator (ICD). The insertion of an ICD is advisable for people who have survived cardiac arrest and those who have syncope and Brugada ECG abnormalities.

The risk of problems after an ICD implant is negligible. People with an ICD implanted as a Brugada syndrome treatment said their ICD shocked them even when their heartbeat was normal. These have been proven to be inappropriate shocks. This could be because patients who receive an ICD are young and could experience shocks when their heart rhythms rise in response to everyday stresses like exercise. Another rapid cardiac rhythm, such as atrial fibrillation or supraventricular tachycardia (SVT), occasionally receives an inappropriate shock. To lower this risk, your doctor will program your ICD. 

It's crucial to rely on friends and family for support, but if you require extra assistance, speak with your doctor about joining a support group. 

Visiting your doctor frequently is a good idea to ensure your cardiac disease is treated effectively. Regular medical examinations can assist your doctor in determining if you require a change in your course of treatment and may enable early detection of any emerging issues.^7,8

Lifestyle changes

Avoid triggers by avoiding factors that may cause them, such as:

• Fever: use paracetamol to bring it down; if this does not work, get medical help as soon as possible.
• Avoid consuming excessive amounts of alcohol.
• Dehydration 
• Heat stroke
• Sodium channel blockers 
• Lithium
• Tricyclic antidepressants
• Cocaine
• Marijuana

Most people can exercise, engage in sexual activity, become pregnant, or participate in daily activities like driving. However, people, especially those who have an ICD, may continue to experience issues due to recurrent symptoms. More guidance regarding the probable long-term effects of your disease on your lifestyle should be available from your specialist.^4,9

Diagnosis of Brugada Syndrome

The following are some of the indicators for Brugada syndrome diagnosis:

• Clinical Assessment: A thorough medical history is collected to uncover any symptoms or family histories of sudden cardiac death or unexplained syncope (fainting). Although Brugada syndrome is frequently insignificant, a thorough physical examination may show any specific indications related to the condition
• Genetic testing can prove you have a specific genetic mutation that suggests Brugada syndrome. Furthermore, family members may want to undergo testing for this mutation
• Electrocardiogram (EKG) examination captures the electrical activity that propels your heartbeat. A distinctive Brugada pattern often appears on the EKG output in people with this syndrome. They might also do an EKG both before and after a substantial meal
• Provocation testing is performed to reveal the Brugada ECG pattern in patients with an undetermined or borderline ECG with ajmaline or flecainide. ECG abnormalities indicative of Brugada syndrome are detected during the examination
• Electrophysiology (EP) testing by inserting catheters via the femoral (leg) veins, medical professionals perform electrophysiology (EP) testing on patients. These catheters record electrical activity coming from your heart's inside
• Lab tests can rule out additional reasons for an irregular heartbeat and test for a proper potassium-calcium balance⁴

Prevention

How to reduce the risk of developing Brugada syndrome

There is no preventative measure. People at risk can be identified and provided information on changing their lifestyles through screening of close relatives. Avoiding things that cause arrhythmias is crucial. Clinicians must stop any predisposing medications immediately and provide alternatives.^10,11

Risk factors

• Genetic Variants: SCN5A and other genetic mutations raise the likelihood of getting the syndrome
• Family history: This disease is frequently inherited and passed down through families. One's likelihood of developing Brugada syndrome increases even more if they have family members who also have this syndrome
• Gender: People AMAB are diagnosed with Brugada syndrome more frequently than people AFAB.
• Race: Asians are far more likely to experience it than persons of other races
• Fever: Although a temperature doesn't cause Brugada syndrome, it can irritate the heart and cause fainting or sudden cardiac arrest in those with the condition, especially in youngsters¹²

Complications

• Sudden cardiac arrest with sudden loss of breathing, consciousness, and heart function, that occurs while you're unconscious, is fatal if not treated promptly. Survival is feasible with rapid, adequate medical care
• Fainting needs immediate medical treatment for Brugada syndrome¹²

FAQs

How common is brugada syndrome?

According to estimates, 1 in 2,000 to 1 in 20,000 people worldwide are thought to be affected by the relatively uncommon Brugada syndrome.

When should I see a doctor?

If you have heart palpitations, unexplained fainting, or a family history of sudden cardiac death, you should consult a doctor for an accurate assessment, diagnosis, and direction.

Summary

When you discover that you have a condition that could lead to cardiac arrest, it's only natural to have questions. Any questions you have should be brought up with your doctor. Healthcare professionals must be aware of the ECG presentation since Brugada syndrome is uncommon and linked to abrupt mortality. Learn the fundamentals of CPR and teach them to the patient, their family, and coworkers. Genetic consultation should also be provided.