A confirmed diagnosis of Brugada syndrome is made by the “coved appearance” of ST-segment with an elevation of 2 mm, observed in more than one right precordial lead (V1 to V3) and in conjunction with any of the following factors:
- Documented ventricular fibrillation
- Polymorphic ventricular tachycardia
- A family history of sudden cardiac death in people younger than 45 years old
- Coved-type ECGs in other family members
- Inducible ventricular tachycardia with programmed electrical stimulation
- History or recent syncope episode
- Nocturnal agonal respiration
What is Brugada syndrome?
Brugada syndrome is a rare, inherited (genes inherited from one of the parents), a cardiovascular condition that causes an abnormal heart rhythm in the ventricles (lower chambers of the heart). This can lead to syncope (fainting episodes) and sudden cardiac death. The syndrome affects a structurally normal heart.
9 characteristics of Brugada syndrome
- It was first discovered in 1992 by the Spanish cardiologists, Pedro Brugada and Josep Brugada (Brugada brothers)
- Men are five to eight times more likely to develop the condition than women
- Its prevalence is estimated to be 5 in 10,000 people
- It is primarily caused by genetic mutations
- The arrhythmias usually occur in patients aged between 30 and 40 years
- It is passed from generation to generation in an autosomal dominant manner (from parents to their children)
- Individuals with a family history of Brugada syndrome should be screened regularly
- The most found genetic defect is a mutation in the SCN5A gene, which encodes the cardiac sodium channel
- Dysfunction of these sodium channels leads to local conduction blockages in the heart
What is a Brugada pattern in ECG?
QT interval is normal in Brugada syndrome unlike other genetic syndromes, resulting in sudden cardiac death.
Three types of electrocardiogram (ECG) findings in Brugada syndrome patients are:
- Type I: Lead V1 has a coved appearance of ST-segment with an elevation of at least 2 mm, followed by a negative T wave.
- Type II: Lead V1 shows a saddleback appearance of the ST-segment with an elevation of at least 2 mm (can be present in normal individuals).
- Type III: Features of type I (coved) or type II (saddleback) with less than 2 mm of ST-segment elevation.
What are the symptoms of Brugada syndrome?
Most people with Brugada syndrome remain asymptomatic, and it may be found on a routine electrocardiogram.
The symptoms of Brugada syndrome can mimic many other conditions, which may include:
- Ventricular tachyarrhythmia (a fast, irregular heart rhythm that initiates in the lower chamber of the heart)
- Syncope (fainting) or blackouts
- Chest pain or breathlessness
- Palpitations (a fluttering or a flip-flopping in the chest)
- Atrial fibrillation (a fast, irregular heart rhythm that initiates in the upper chamber of the heart)
- Cardiac arrest (often this could be the first symptom)
How is Brugada syndrome diagnosed?
People are at the risk of developing the condition if they have a first-degree relative (parents, siblings, and children) with Brugada syndrome.
Tests used to detect Brugada syndrome include:
- 12 lead electrocardiogram (ECG): To record the electrical activity of the heart. The doctor will check for the Brugada pattern.
- ECG with medication: Before performing an ECG, the doctor may administer certain medications (ajmaline or flecainide) that help the Brugada pattern show up on the ECG graph.
- Electrophysiology: Catheters are placed inside the heart through a femoral vein (in the groin) that measure electrical activity inside the heart.
- Laboratory tests: To rule out other causes of an abnormal heart rhythm and check for a normal potassium-calcium balance.
- Genetic testing: To confirm a specific gene mutation that indicates Brugada syndrome.
How is Brugada syndrome treated?
Currently, there is no permanent cure available for Brugada syndrome, but certain measures can reduce the risk of experiencing serious problems.
- A fever, excess alcohol consumption, heavy and intense workouts, and dehydration are triggers
- Medications such as quinidine (a sodium channel blocker)
- An implanted cardiac defibrillator (a small device placed in the chest that constantly monitors the heartbeats at a dangerous speed and delivers an electrical impulse to correct abnormal rhythms)
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Cleveland Clinic. Brugada Syndrome. https://my.clevelandclinic.org/health/diseases/16813-brugada-syndrome
National Organization for Rare Disorders. Brugada Syndrome. https://rarediseases.org/rare-diseases/brugada-syndrome/
Dizon JM. Brugada Syndrome. Medscape. https://emedicine.medscape.com/article/163751-overview
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