Brugada Syndrome: Difference between revisions

Jump to navigation Jump to search
no edit summary
(Created page with "thumb|Typical ECG abnormalities in Brugada syndrome: ST elevation in V1-V3, without ischemia. [[Image:Brugada_ecg_characteristics.png|thumb| Typical ECG abn...")
 
No edit summary
Line 1: Line 1:
[[Image:Brugada.png|thumb|Typical ECG abnormalities in Brugada syndrome: ST elevation in V1-V3, without ischemia.]]
[[Image:Brugada.png|thumb|right|Typical ECG abnormalities in Brugada syndrome: ST elevation in V1-V3, without ischemia.]]
[[Image:Brugada_ecg_characteristics.png|thumb| Typical ECG abnormalities in Brugada syndrome]]
[[Image:Brugada_ecg_characteristics.png|thumb|right|Typical ECG abnormalities in Brugada syndrome]]
[[Image:brugada.jpg|thumb| Dr. Pedro Brugada. Pedro and Josep Brugada described in 1992 a landmark publication with a case-series of 8 patients with sudden cardiac death. <cite>Brugada</cite> Currently, three brothers of the Brugada family (Pedro, Josep and Ramon Brugada) conduct research in the syndrome that has been named after them.]]
[[Image:brugada.jpg|thumb|right|Dr. Pedro Brugada. Pedro and Josep Brugada described in 1992 a landmark publication with a case-series of 8 patients with sudden cardiac death. <cite>Brugada</cite> Currently, three brothers of the Brugada family (Pedro, Josep and Ramon Brugada) conduct research in the syndrome that has been named after them.]]
[[Image:scn5a.jpg|thumb| The SCN5a gen is located on the short arm (p) of chromosome 3]]
[[Image:scn5a.jpg|thumb|right|The SCN5a gen is located on the short arm (p) of chromosome 3]]
 


The '''Brugada syndrome is an hereditary disease that is associated with high risk of sudden cardiac death'''. It is characterized by typical ECG abnormalities: '''ST segment elevation in the precordial leads (V1 - V3)'''.
The '''Brugada syndrome is an hereditary disease that is associated with high 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:==
==Characteristics of the Brugada syndrome:==
*Inheritable arrhythmia syndrome with [[w:Autosomal_dominant|autosomal dominant]] inheritance. If one of the two parents is affected, each child (both males and females) has a 50% chance of inheriting the disease.
*Inheritable arrhythmia syndrome with [[w:Autosomal_dominant|autosomal dominant]] inheritance. If one of the two parents is affected, each child (both males and females) has 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.
*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.
Line 16: Line 16:


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>
==Genes linked to the Brugada Syndrome==
{| class="wikitable" border="0" cellpadding="0" cellspacing="0" width="800px"
|-
!colspan="6"|Table 2: Here is a list of the Genes linked to the Brugada syndrome.
|- align=center
|'''Type'''
|'''OMIM'''
|'''Gene'''
|'''Protein'''
|'''Functional role in cardiomyocytes'''
|'''Effect of mutation'''
|-
!colspan="6"|Autosomal dominant inheritance
|-
|BrS1
|#601144
|SCN5A
|Na<sub>v</sub>1.5
|&alpha; subunit of I<sub>Na</sub> channel
|Loss of function of I<sub>Na</sub>
|-
|BrS2
|#611777
|GPD1-L
|G3PD1L
|Not fully established
|Loss of function of I<sub>Na</sub>
|-
|BrS3
|#611875
|CACNA1C
|Ca<sub>v</sub>1.2
|&alpha;<sub>1C</sub> subunit of I<sub>Ca,L channel</sub>
|Loss of function of I<sub>Ca,L</sub>
|-
|BrS4
|#611876
|CACNB2b
|Ca<sub>v</sub>&beta;2b
|&beta;2b subunit of I<sub>Ca,L</sub> channel
|
|-
|BrS5
|#612838
|SCN1B
|Na<sub>v</sub>&beta;1
|&beta; subunit of I<sub>Na</sub> channel
|Loss of function of I<sub>Na</sub>
|-
|BrS6
|#613119
|KCNE3
|KCNE3 (MiRP2)
|&beta; subunit of voltage-dependent K<sup>+</sup> channels
|Gain of function of I<sub>to</sub>
|-
|BrS7
|#613120
|SCN3B
|Na<sub>v</sub>&beta; 3
|&beta; subunit of I<sub>Na</sub> channel
|Loss of function of I<sub>to</sub>
|-
|NC
|#613123
|HCN4
|HCN4
|&alpha; subunit of I<sub>f</sub>
|Gain of function of I<sub>f</sub>
|-
|NC
|
|CACNA2D1
|Ca<sub>v</sub>&alpha;<sub>2</sub> &delta;-1
|</sub>&alpha;<sub>2</sub> &delta; subunit of I<sub>Ca,L</sub> channel
|Loss of function of I<sub>Ca,L</sub>
|-
|NC
|
|MOG1
|MOG1
|Regulates tra?cking of Na<sub>v</sub>1.5 to the membrance
|Loss of function of I<sub>Na</sub>
|-
|NC
|
|KCND3
|K<sub>v</sub>4.3
|&alpha; subunit of I<sub>to</sub> channel
|Gain of function of I<sub>to</sub>
|-
|NC
|
|KCNE1L (KCNE5)
|KCNE1L
|&beta; subunit of voltage-dependent K<sub>+</sub> channels
|Gain of function of I<sub>to</sub>
|-
|NC
|
|KCNJ8
|K<sub>ir</sub>6.1
|&alpha; subunit of I<sub>K,ATP</sub>
|Gain of function of I<sub>K,ATP</sub>
|-
|NC
|
|SCN1B''b''
|Na<sub>v</sub>&beta;1B
|&beta; subunit of I<sub>Na</sub>
|Loss of function of I<sub>Na</sub> and gain of function of I<sub>to</sub>
|-
|colspan="6" bgcolor="#99CCFF"|OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; BrS1–BrS7: Brugada syndrome types 1–7; NC: no
consensus; I<sub>Ca,L</sub>: L-type calcium current; I<sub>f</sub>: hyperpolarization-activated current; I<sub>K,ATP</sub>: ATP-sensitive potassium current; I<sub>Na</sub>: fast sodium current; I<sub>to</sub>: transient outward potassium current.
|}


==Diagnosis and treatment==
==Diagnosis and treatment==
Line 30: Line 146:


==Electrocardiographic criteria==
==Electrocardiographic criteria==
[[Image:Brugada_lead_placement.png|thumb|Changed lead positions of leads V3 and V5 to increase the sensitiviy to 'catch' a Brugada pattern on the ECG]]
[[Image:Brugada_lead_placement.png|thumb|right|Changed lead positions of leads V3 and V5 to increase the sensitiviy to 'catch' a Brugada pattern on the ECG]]
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.


467

edits

Navigation menu