Difference between revisions of "Brugada Syndrome"

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==Characteristics of the Brugada syndrome:==
 
==Characteristics of the Brugada syndrome:==
*[[w:Autosomal_dominant|autosomal dominant]] inheritance. If one of both parents are affected, their children have a 50% chance of inheriting the disease.
+
*Inheritable arrhythmia syndrome with [[w:Autosomal_dominant|autosomal dominant]] inheritance. If one of both parents are affected, their children (either males or females) have a 50% chance of inheriting the disease.
*Man are more often symptomatic than women, probably by the influence of sex hormones on cardiac arrhythmias.  
+
*Males are more often symptomatic than females, probably by the influence of sex hormones on cardiac arrhythmias and/or ion channels, and a different distribution of ion channels across the heart in males versus females.
*The arrhythmias usually occur between 30 and 40 years of age. (range 1-77 yrs) and often during rest or while sleeping.
+
*The arrhythmias usually occur between 30 and 40 years of age. (range 1-77 yrs) and often during rest or while sleeping (high vagal tone).
*Only in about 30% of patients, genetic defects can be detected in the ([http://ghr.nlm.nih.gov/gene=scn5a SCN5A]) gen. In the other patients the disease is probably multi-genetic or caused by yet unknown genetic defects.
+
*Only in about 30% of patients, genetic defects can be detected in the ([http://ghr.nlm.nih.gov/gene=scn5a SCN5A]) gene which encodes the cardiac sodium channel. In much smaller quantities mutations may be found in the GPD1L gene (which probably influences cardiac sodium channel function) or in cardiac calcium channel encoding genes (CACNxxx). In the other patients the disease is probably multi-genetic or caused by yet unknown genetic defects.
*The right ventricular outflow tract (right before the pulmonary valve) is most affected in the Brugada syndrome.  
+
*The right ventricle is most affected in Brugada syndrome, and particularly (but not specifically) the right ventricular outflow tract .  
*The prevalence varies between 5-50:10.000, largely depending on geographic location. In some south-east Asian countries the disease is endemic and sometimes considered the second cause of death amongst young men (after car accidents). There it is called 'Sudden Unexpected Death Syndrome' (SUDS). In different Asian countries, different names have been given to the syndrome: in the Phillipines it is called ''bangungut'' (to rise and moan in sleep) and in Thailand ''lai tai'' (death during sleep)
+
*The prevalence varies between 5-50:10.000, largely depending on geographic location. In some south-east Asian countries the disease is considered endemic and believed to be the second cause of death amongst young men (after car accidents). In these countries Brugada syndrome is believed to underly (in part) the 'Sudden Unexpected Death Syndrome' (SUDS). This relation has however not been thoroughly investigated and there are almost no epidemiological studies into Brugada syndrome ECGs (apart from Japan). In different Asian countries, different names have been given to SUDS: in the Phillipines it is called ''bangungut'' (to rise and moan in sleep) and in Thailand ''lai tai'' (death during sleep).
  
 
The Brugada brothers were the first to describe the characteristic ECG findings and link them to sudden death. Before that, the characteristic ECG findings, were often mistaken for a [[Right_Ventricle_MI|right ventricle myocardial infarction]] and already in 1953, a publication mentions that the ECG findings were not associated with ischemia as people often expected.<cite>osher</cite>
 
The Brugada brothers were the first to describe the characteristic ECG findings and link them to sudden death. Before that, the characteristic ECG findings, were often mistaken for a [[Right_Ventricle_MI|right ventricle myocardial infarction]] and already in 1953, a publication mentions that the ECG findings were not associated with ischemia as people often expected.<cite>osher</cite>
Line 26: Line 26:
 
==Diagnosis and treatment==
 
==Diagnosis and treatment==
  
*Patients who are symptomatic (syncope, ventricular tachycardias or survivors of sudden cardiac death) have a mortality risk of up to 10% per year. In these patients an [[:w:nl:Internal_Cardiac_Defibrillator|ICD]] should be implanted.  
+
*Patients who are symptomatic (unexplained syncope, ventricular tachycardias or survivors of sudden cardiac death) have a mortality risk of up to 10% per year. In these patients an [[:w:nl:Internal_Cardiac_Defibrillator|ICD]] should be implanted.  
*Some groups advice an electrofysiologic investigation for risk assessment in Brugada patients,<cite>brug2</cite><cite>brug3</cite> but others could not reproduce the predicive value of these tests,<cite>priori</cite><cite>eckhardt</cite> so this is still controversial.
+
*Some groups advice an electrophysiological investigation (inducibility of VF) for risk assessment in Brugada patients,<cite>brug2</cite><cite>brug3</cite> but others could not reproduce the predicive value of these tests,<cite>priori</cite><cite>eckhardt</cite> so the value of inducibility is (very) controversial.
*In large studies familiar sudden death is not a risk factor for sudden death in siblings.
+
*In large studies familial sudden death did not appear to be a risk factor for sudden death in siblings.
*In asymptomatic patients in whom the Brugada ECG characteristics are present either spontaneously or provoked by fever or sodium channel blockers (ajmaline, flecainide) life style advices are given, which include:
+
*In asymptomatic patients in whom the Brugada ECG characteristics are present (either spontaneously or provoked by fever or sodium channel blockers like ajmaline, procainimde or flecainide) life style advices are given, which include:
**A number of medications should not be taken (amongst others beta-blockers, and sodium channel blockers such as certain anti-depressants and anti-arrhythmics)
+
**A number of medications should not be taken (amongst which beta-blockers, and sodium channel blockers such as certain anti-depressants and anti-arrhythmics)
**Rigorous treatment of fever with paracetamol / Tylenol
+
**Rigorous treatment of fever with paracetamol / Tylenol, as fever may elicited the Brugada ECG and arrhythmias in some patients
  
 
For a full list of the diagnostic criteria, see <cite>Wilde</cite>
 
For a full list of the diagnostic criteria, see <cite>Wilde</cite>
Line 39: Line 39:
 
Three ECG repolarization patterns in the right precordial leads are recognized in the diagnosis of Brugada syndrome.
 
Three ECG repolarization patterns in the right precordial leads are recognized in the diagnosis of Brugada syndrome.
  
'''Type I''' is the only ECG criterium that is diagnostic of Brugada syndrome. Type I repolarization is characterized by a coved ST-segment elevation >=2 mm (0.2 mV) followed by a negative T wave (see figure). Brugada syndrome is definitively diagnosed when a type 1 ST-segment elevation is observed in >1 right precordial lead (V1 to V3) in the presence or absence of a sodium channel–blocking agent, and in conjunction with one of the following:  
+
'''Type I''' is the only ECG criterion that is diagnostic of Brugada syndrome. The type I ECG is characterized by a coved J elevation >=2 mm (0.2 mV) followed by a negative T wave (see figure). Brugada syndrome is definitively diagnosed when a type 1 ST-segment elevation is observed in >1 right precordial lead (V1 to V3) in the presence or absence of a sodium channel–blocking agent, and in conjunction with one of the following:  
 
*documented ventricular fibrillation (VF)
 
*documented ventricular fibrillation (VF)
 
*polymorphic ventricular tachycardia (VT)
 
*polymorphic ventricular tachycardia (VT)
Line 47: Line 47:
 
*syncope
 
*syncope
 
*nocturnal agonal respiration.
 
*nocturnal agonal respiration.
 +
The sensitivity of the ECG for Brugada syndrome can be increased with placement of ECG leads in the intercostal space above V1 and V2 (V1ic3 and V2ic3)
  
Electrocardiograms of Brugada patients can change over time from type I to type II ECGs and back.
+
Electrocardiograms of Brugada patients can change over time from type I to type II and/or normal ECGs and back.
A type III ECG is rather common and is concidered a normal variant.
+
A type III ECG is rather common and is considered a normal variant, but also the Type II is a normal variant (albeit suggestive of Brugada syndrome).
  
 
{| class="wikitable" font-size="90%"
 
{| class="wikitable" font-size="90%"

Revision as of 06:52, 1 August 2008

Author(s) P.G. Postema, MD
Moderator P.G. Postema, MD
Supervisor
some notes about authorship
Typical ECG abnormalities in Brugada syndrome: ST elevation in V1-V3, without ischemia.
Typical ECG abnormalities in Brugada syndrome
Dr. Pedro Brugada. Pedro and Josep Brugada described in 1992 a landmark publication with a case-series of 8 patients with sudden cardiac death. [1] Currently, three brothers of the Brugada family (Pedro, Josep and Ramon Brugada) conduct research in the syndrome that has been named after them.
The SCN5a gen is located on the short arm (p) of chromosome 3


The Brugada syndrome is an hereditary disease that is associated with higher risk of sudden cardiac death. It is characterized by typical ECG abnormalities: ST segment elevation in the precordial leads (V1 - V3).

Characteristics of the Brugada syndrome:

  • Inheritable arrhythmia syndrome with autosomal dominant inheritance. If one of both parents are affected, their children (either males or females) have a 50% chance of inheriting the disease.
  • Males are more often symptomatic than females, probably by the influence of sex hormones on cardiac arrhythmias and/or ion channels, and a different distribution of ion channels across the heart in males versus females.
  • The arrhythmias usually occur between 30 and 40 years of age. (range 1-77 yrs) and often during rest or while sleeping (high vagal tone).
  • Only in about 30% of patients, genetic defects can be detected in the (SCN5A) gene which encodes the cardiac sodium channel. In much smaller quantities mutations may be found in the GPD1L gene (which probably influences cardiac sodium channel function) or in cardiac calcium channel encoding genes (CACNxxx). In the other patients the disease is probably multi-genetic or caused by yet unknown genetic defects.
  • The right ventricle is most affected in Brugada syndrome, and particularly (but not specifically) the right ventricular outflow tract .
  • The prevalence varies between 5-50:10.000, largely depending on geographic location. In some south-east Asian countries the disease is considered endemic and believed to be the second cause of death amongst young men (after car accidents). In these countries Brugada syndrome is believed to underly (in part) the 'Sudden Unexpected Death Syndrome' (SUDS). This relation has however not been thoroughly investigated and there are almost no epidemiological studies into Brugada syndrome ECGs (apart from Japan). In different Asian countries, different names have been given to SUDS: in the Phillipines it is called bangungut (to rise and moan in sleep) and in Thailand lai tai (death during sleep).

The Brugada brothers were the first to describe the characteristic ECG findings and link them to sudden death. Before that, the characteristic ECG findings, were often mistaken for a right ventricle myocardial infarction and already in 1953, a publication mentions that the ECG findings were not associated with ischemia as people often expected.[2]

Diagnosis and treatment

  • Patients who are symptomatic (unexplained syncope, ventricular tachycardias or survivors of sudden cardiac death) have a mortality risk of up to 10% per year. In these patients an ICD should be implanted.
  • Some groups advice an electrophysiological investigation (inducibility of VF) for risk assessment in Brugada patients,[3][4] but others could not reproduce the predicive value of these tests,[5][6] so the value of inducibility is (very) controversial.
  • In large studies familial sudden death did not appear to be a risk factor for sudden death in siblings.
  • In asymptomatic patients in whom the Brugada ECG characteristics are present (either spontaneously or provoked by fever or sodium channel blockers like ajmaline, procainimde or flecainide) life style advices are given, which include:
    • A number of medications should not be taken (amongst which beta-blockers, and sodium channel blockers such as certain anti-depressants and anti-arrhythmics)
    • Rigorous treatment of fever with paracetamol / Tylenol, as fever may elicited the Brugada ECG and arrhythmias in some patients

For a full list of the diagnostic criteria, see [7]

Electrocardiographic criteria

Brugada lead placement.png

Three ECG repolarization patterns in the right precordial leads are recognized in the diagnosis of Brugada syndrome.

Type I is the only ECG criterion that is diagnostic of Brugada syndrome. The type I ECG is characterized by a coved J elevation >=2 mm (0.2 mV) followed by a negative T wave (see figure). Brugada syndrome is definitively diagnosed when a type 1 ST-segment elevation is observed in >1 right precordial lead (V1 to V3) in the presence or absence of a sodium channel–blocking agent, and in conjunction with one of the following:

  • documented ventricular fibrillation (VF)
  • polymorphic ventricular tachycardia (VT)
  • a family history of sudden cardiac death at <45 years old
  • coved-type ECGs in family members
  • inducibility of VT with programmed electrical stimulation
  • syncope
  • nocturnal agonal respiration.

The sensitivity of the ECG for Brugada syndrome can be increased with placement of ECG leads in the intercostal space above V1 and V2 (V1ic3 and V2ic3)

Electrocardiograms of Brugada patients can change over time from type I to type II and/or normal ECGs and back. A type III ECG is rather common and is considered a normal variant, but also the Type II is a normal variant (albeit suggestive of Brugada syndrome).

ST segment abnormalities in the different types of Brugada syndrome[8]
Type I Type II Type III
J wave amplitude >= 2mm >= 2mm >= 2mm
T wave negative positive or biphasis positive
ST-T configuration coved type saddleback saddleback
ST segment (terminal portion) gradually descending elevated >= 1mm elevated < 1mm


External links

Referenties

Error fetching PMID 15898165:
Error fetching PMID 1309182:
Error fetching PMID 13104407:
Error fetching PMID 11772879:
Error fetching PMID 12776858:
Error fetching PMID 11901046:
Error fetching PMID 15642768:
Error fetching PMID 12417552:
  1. Error fetching PMID 1309182: [Brugada]
  2. Error fetching PMID 13104407: [osher]
  3. Error fetching PMID 11772879: [brug2]
  4. Error fetching PMID 12776858: [brug3]
  5. Error fetching PMID 11901046: [priori]
  6. Error fetching PMID 15642768: [eckhardt]
  7. Error fetching PMID 15898165: [Wilde]
  8. Error fetching PMID 12417552: [Wilde2]

All Medline abstracts: PubMed | HubMed