Brugada Syndrome: Difference between revisions

Jump to navigation Jump to search

Brugada Syndrome (view source)

Revision as of 08:24, 21 March 2013

1,938 bytes removed ,  21 March 2013
m
no edit summary
No edit summary
mNo edit summary
Line 22: Line 22:
{| class="wikitable" border="0" cellpadding="0" cellspacing="0" width="800px"
{| 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.
!colspan="1"|'''Findings'''
|- align=center
|- align=left
|'''Type'''
|'''ECG'''
|'''OMIM'''
|'''OMIM'''
|'''Gene'''
|'''Gene'''
Line 31: Line 31:
|'''Effect of mutation'''
|'''Effect of mutation'''
|-
|-
!colspan="6"|Autosomal dominant inheritance
!colspan="1"|'''And at least one of the following'''
|-
|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
|Loss of function of I<sub>Ca,L</sub>
|-
|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<br />(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>Na</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
|''&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 trafficking 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<br />(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
|
|''SCN1Bb''  
|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="1"|'''And at least one of the following'''
|colspan="6" bgcolor="#FFFFCC"|'''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.
|colspan="6" bgcolor="#FFFFCC"|'''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.
|}
|}
Retrieved from "https://www.textbookofcardiology.org/wiki/Special:MobileDiff/2184"

Navigation menu