Document Detail


Cardiac Channelopathies and Sudden Infant Death Syndrome.
MedLine Citation:
PMID:  21778721     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Sudden infant death syndrome (SIDS) is always a devastating and unexpected occurrence. SIDS is the leading cause of death in the first 6 months after birth in the industrialized world. Since the discovery in 1998 of long QT syndrome as an underlying substrate for SIDS, around 10-20% of SIDS cases have been proposed as being caused by genetic variants in either ion channel or ion channel-associated proteins. Until now, 10 cardiac channelopathy susceptibility genes have been found to be implicated in the pathogenesis of SIDS. Four of the genes encode cardiac ion channel α-subunits, 3 genes encode ion channel β-subunits, and 3 genes encode other channel-interacting proteins. All 10 genes have been associated with primary electrical heart diseases. SIDS may hereby be the initial symptom of rare primary electric channelopathies such as long QT, short QT and Brugada syndrome, as well as catecholaminergic polymorphic ventricular tachycardia. In this review we describe the functional role of sodium, potassium and calcium channels in propagation, depolarization and repolarization in the context of the 4 arrhythmogenic diseases reported to be associated with SIDS. Lastly, the possibility of postmortem genetic testing and potential recommendations on how to deal with family members are discussed.
Authors:
Jacob Tfelt-Hansen; Bo Gregers Winkel; Morten Grunnet; Thomas Jespersen
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-7-16
Journal Detail:
Title:  Cardiology     Volume:  119     ISSN:  1421-9751     ISO Abbreviation:  -     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-7-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  1266406     Medline TA:  Cardiology     Country:  -    
Other Details:
Languages:  ENG     Pagination:  21-33     Citation Subset:  -    
Copyright Information:
Copyright © 2011 S. Karger AG, Basel.
Affiliation:
Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Copenhagen, Denmark.
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