PMID- 18436145
OWN - NLM
STAT- MEDLINE
DCOM- 20080710
LR  - 20220408
IS  - 1050-1738 (Print)
IS  - 1050-1738 (Linking)
VI  - 18
IP  - 3
DP  - 2008 Apr
TI  - Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
PG  - 78-87
LID - 10.1016/j.tcm.2008.01.002 [doi]
AB  - Cardiac sodium channel dysfunction caused by mutations in the SCN5A gene is 
      associated with a number of relatively uncommon arrhythmia syndromes, including 
      long-QT syndrome type 3 (LQT3), Brugada syndrome, conduction disease, sinus node 
      dysfunction, and atrial standstill, which potentially lead to fatal arrhythmias 
      in relatively young individuals. Although these various arrhythmia syndromes were 
      originally considered separate entities, recent evidence indicates more overlap 
      in clinical presentation and biophysical defects of associated mutant channels 
      than previously appreciated. Various SCN5A mutations are now known to present 
      with mixed phenotypes, a presentation that has become known as "overlap syndrome 
      of cardiac sodium channelopathy." In many cases, multiple biophysical defects of 
      single SCN5A mutations are suspected to underlie the overlapping clinical 
      manifestations. Here, we provide an overview of current knowledge on SCN5A 
      mutations associated with sodium channel overlap syndromes and discuss a possible 
      role for modifiers in determining disease expressivity in the individual patient.
FAU - Remme, Carol Ann
AU  - Remme CA
AD  - Department of Experimental Cardiology, Heart Failure Research Center, Academic 
      Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 
      c.a.remme@amc.uva.nl
FAU - Wilde, Arthur A M
AU  - Wilde AA
FAU - Bezzina, Connie R
AU  - Bezzina CR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Trends Cardiovasc Med
JT  - Trends in cardiovascular medicine
JID - 9108337
RN  - 0 (Sodium Channels)
SB  - IM
MH  - Animals
MH  - Biophysical Phenomena
MH  - Biophysics
MH  - Brugada Syndrome/*genetics/physiopathology
MH  - DNA Mutational Analysis
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Long QT Syndrome/*genetics/physiopathology
MH  - Mutation, Missense/*genetics
MH  - Phenotype
MH  - Sick Sinus Syndrome/*genetics/physiopathology
MH  - Sodium Channels/*genetics/physiology
RF  - 85
EDAT- 2008/04/26 09:00
MHDA- 2008/07/11 09:00
CRDT- 2008/04/26 09:00
PHST- 2007/11/13 00:00 [received]
PHST- 2007/12/29 00:00 [revised]
PHST- 2008/01/07 00:00 [accepted]
PHST- 2008/04/26 09:00 [pubmed]
PHST- 2008/07/11 09:00 [medline]
PHST- 2008/04/26 09:00 [entrez]
AID - S1050-1738(08)00005-4 [pii]
AID - 10.1016/j.tcm.2008.01.002 [doi]
PST - ppublish
SO  - Trends Cardiovasc Med. 2008 Apr;18(3):78-87. doi: 10.1016/j.tcm.2008.01.002.