Podcast
Questions and Answers
Brugada syndrome is characterized by ST-segment elevation in which of the following ECG leads?
Brugada syndrome is characterized by ST-segment elevation in which of the following ECG leads?
- Posterior leads (V7-V9)
- Anterior precordial leads (V1-V3) (correct)
- Inferior leads (II, III, aVF)
- Lateral leads (I, aVL, V5, V6)
Patients with Brugada syndrome are at high risk of sudden cardiac death due to bradycardia.
Patients with Brugada syndrome are at high risk of sudden cardiac death due to bradycardia.
False (B)
In what year was Brugada syndrome first described?
In what year was Brugada syndrome first described?
1993
Brugada syndrome was initially thought to be inherited as a monogenic, autosomal dominant disease, it is now considered more likely to encompass an ______ or polygenic inheritance.
Brugada syndrome was initially thought to be inherited as a monogenic, autosomal dominant disease, it is now considered more likely to encompass an ______ or polygenic inheritance.
Match the following aspects of Brugada syndrome with their descriptions:
Match the following aspects of Brugada syndrome with their descriptions:
Which of the following best describes the inheritance pattern of Brugada syndrome, as understood currently?
Which of the following best describes the inheritance pattern of Brugada syndrome, as understood currently?
All patients with Brugada syndrome have a detectable mutation in the SCN5A gene.
All patients with Brugada syndrome have a detectable mutation in the SCN5A gene.
The SCN5A gene encodes the alpha subunit of which cardiac ion channel?
The SCN5A gene encodes the alpha subunit of which cardiac ion channel?
Mutations in the SCN5A gene result in defective Nav1.5 channels in the cardiac cell membrane, which play a crucial role in the initial ______ phase of the cardiac action potential.
Mutations in the SCN5A gene result in defective Nav1.5 channels in the cardiac cell membrane, which play a crucial role in the initial ______ phase of the cardiac action potential.
Match the following cardiac conditions with the SCN5A gene mutations that are also implicated in Brugada syndrome
Match the following cardiac conditions with the SCN5A gene mutations that are also implicated in Brugada syndrome
Which phase of the cardiac action potential is directly affected by mutations in the SCN5A gene in Brugada syndrome?
Which phase of the cardiac action potential is directly affected by mutations in the SCN5A gene in Brugada syndrome?
The repolarization and depolarization disorder models in Brugada syndrome emphasize the involvement of the left ventricle.
The repolarization and depolarization disorder models in Brugada syndrome emphasize the involvement of the left ventricle.
What part of the right ventricle is particularly implicated in the pathophysiology of Brugada syndrome?
What part of the right ventricle is particularly implicated in the pathophysiology of Brugada syndrome?
In Brugada syndrome, the distinctive ECG changes are observed in the right precordial leads, specifically leads ______ to V3.
In Brugada syndrome, the distinctive ECG changes are observed in the right precordial leads, specifically leads ______ to V3.
Match the following characteristics with their prevalence in Brugada syndrome
Match the following characteristics with their prevalence in Brugada syndrome
Which of the following demographic groups has the highest reported prevalence of Brugada syndrome?
Which of the following demographic groups has the highest reported prevalence of Brugada syndrome?
Brugada syndrome is equally prevalent among males and females.
Brugada syndrome is equally prevalent among males and females.
In which region of Asia is Brugada syndrome particularly prevalent?
In which region of Asia is Brugada syndrome particularly prevalent?
Mutations in the SCN5A gene result in defective Nav1.5 channels in the cardiac cell membrane, which results in a delayed phase ______, causing slower conduction
Mutations in the SCN5A gene result in defective Nav1.5 channels in the cardiac cell membrane, which results in a delayed phase ______, causing slower conduction
Match the hypothesis regarding Brugada syndrome's pathophysiology with their mechanisms
Match the hypothesis regarding Brugada syndrome's pathophysiology with their mechanisms
Which of the following describes the role of the SCN5A gene in Brugada Syndrome?
Which of the following describes the role of the SCN5A gene in Brugada Syndrome?
Brugada syndrome exclusively involves mutations in the SCN5A gene.
Brugada syndrome exclusively involves mutations in the SCN5A gene.
What type of ventricular arrhythmia is commonly associated with sudden cardiac death in Brugada syndrome?
What type of ventricular arrhythmia is commonly associated with sudden cardiac death in Brugada syndrome?
The loss of function of Nav1.5 channels due to SCN5A mutations leads to a ______ phase zero, causing slower conduction in the heart.
The loss of function of Nav1.5 channels due to SCN5A mutations leads to a ______ phase zero, causing slower conduction in the heart.
Match the following characteristics with their description
Match the following characteristics with their description
Which of the following is NOT generally considered a risk factor for Brugada syndrome?
Which of the following is NOT generally considered a risk factor for Brugada syndrome?
The precise mechanism of Brugada syndrome is fully understood.
The precise mechanism of Brugada syndrome is fully understood.
Name one syndrome, other than Brugada syndrome, in which mutations of the SCN5A gene are implicated.
Name one syndrome, other than Brugada syndrome, in which mutations of the SCN5A gene are implicated.
In the context of Brugada syndrome, polymorphic ventricular tachycardia (VT) can lead to ______.
In the context of Brugada syndrome, polymorphic ventricular tachycardia (VT) can lead to ______.
Match the descriptions with the terminology
Match the descriptions with the terminology
In Brugada syndrome, which of the following ECG findings is most indicative of the condition?
In Brugada syndrome, which of the following ECG findings is most indicative of the condition?
Brugada Syndrome is more common in females than males
Brugada Syndrome is more common in females than males
Name the primary genetic defect involved with Brugada syndrome.
Name the primary genetic defect involved with Brugada syndrome.
The distinctive ECG changes observed in the right precordial leads (V1-V3) are due to the involvement of the ______.
The distinctive ECG changes observed in the right precordial leads (V1-V3) are due to the involvement of the ______.
Match the following
Match the following
In individuals with Brugada Syndrome, what cardiac event poses the greatest risk?
In individuals with Brugada Syndrome, what cardiac event poses the greatest risk?
All mutations of the SCN5A gene are considered pathogenic in Brugada Syndrome
All mutations of the SCN5A gene are considered pathogenic in Brugada Syndrome
What is the function of wild-type SCN5A?
What is the function of wild-type SCN5A?
The loss of function of Nav1.5 channels due to SCN5A mutations can result in a delayed phase zero, leading to slower conduction and increasing risk of ______.
The loss of function of Nav1.5 channels due to SCN5A mutations can result in a delayed phase zero, leading to slower conduction and increasing risk of ______.
Match the concepts with their description regarding Brugada Syndrome
Match the concepts with their description regarding Brugada Syndrome
Flashcards
Brugada Syndrome
Brugada Syndrome
A rare, inherited heart condition (cardiac channelopathy) often due to a genetic mutation.
Brugada Syndrome Risk
Brugada Syndrome Risk
The primary risk in Brugada syndrome is sudden cardiac death due to dangerous heart rhythms.
Brugada Syndrome Discovery
Brugada Syndrome Discovery
Brugada syndrome was first described in 1993, noting structurally normal hearts experiencing unexplained cardiac arrest.
Brugada Inheritance
Brugada Inheritance
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SCN5A Gene
SCN5A Gene
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Brugada Pathophysiology
Brugada Pathophysiology
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Repolarization & Depolarization Disorder Models
Repolarization & Depolarization Disorder Models
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Brugada Demographics
Brugada Demographics
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Study Notes
- Brugada syndrome is a rare, inherited cardiac condition that increases the risk of sudden cardiac death due to ventricular arrhythmias.
Characteristics
- Characterized by ST-segment elevation in the anterior precordial leads (V1-V3)
- Occurs in individuals with structurally normal hearts.
History
- First described in 1993
- Identified in eight patients with structurally normal hearts who experienced recurrent cardiac arrest due to polymorphic VT that couldn't be explained by known diseases.
Etiology
- Initially thought to be autosomal-dominant
- Now considered more likely to be oligogenic or polygenic, involving multiple genetic modifiers.
- The relationship between genotype and phenotype in Brugada syndrome is complex and not fully understood.
Genetic Mutations
- Multiple gene mutations are implicated
- Only SCN5A gene variants are considered pathogenic.
- SCN5A gene encodes the alpha subunit of the cardiac voltage-gated sodium channel (Nav1.5).
- Over 300 mutations of the SCN5A gene have been discovered.
- Around 20% of Brugada syndrome patients have mutations in SCN5A.
- SCN5A mutations are also implicated in other cardiac conditions, including long QT syndrome type III, sick sinus syndrome, progressive cardiac conduction diseases, and dilated cardiomyopathy.
Pathophysiology
- Mutations in the SCN5A gene result in defective Nav1.5 channels in the cardiac cell membrane, affecting the initial depolarization phase of the cardiac action potential.
- This leads to delayed phase zero, slower conduction in the heart, and an increased risk of ventricular arrhythmias.
- Two main hypotheses explain the mechanism: the repolarization and the depolarization disorder models.
- Both models emphasize the involvement of the right ventricle, particularly the right ventricular outflow tract (RVOT), which accounts for the ECG changes in the right precordial leads (V1-V3).
Risk Factors
- More common in males (8-10 times more prevalent than females)
- Typically affects individuals in middle age (30-50 years old)
- Higher prevalence in individuals of Asian ancestry, especially Southeast Asia.
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