Ion channels and beating heart: the players and the music

Soft gentle music accompanies us throughout our lifetime; it is the music of our heart beating. Although at times it is questionable as to who serves as conductor of the orchestra, there is little doubt that our ion channels are the main players. Whenever one of them plays too loudly, too softly or simply off key, disharmony results, sometimes leading to total disruption of the rate and rhythm. Ion channels can disrupt the music of our heart by different mechanisms. Sometimes their function is correct, but their expression is altered by underlying cardiac diseases ( i.e. heart failure); sometimes the defect is in their structure, because of an underlying genetic defect, and in this case a channelopathy is present.

[1]  P. Schwartz,et al.  Sudden infant death syndrome and cardiac channelopathies: from mechanisms to prevention of avoidable tragedies , 2011 .

[2]  A. Clarke,et al.  Background considerations towards ESHG Recommendations , 2009 .

[3]  T. Meitinger,et al.  Recent advances in the genetics of atrial fibrillation: from rare and common genetic variants to microRNA signaling , 2011 .

[4]  Dan M Roden,et al.  Cardiac potassium channel dysfunction in sudden infant death syndrome. , 2007, Journal of molecular and cellular cardiology.

[5]  M. Sheppard,et al.  Guidelines for autopsy investigation of sudden cardiac death , 2007, Virchows Archiv.

[6]  H. Tan,et al.  Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? , 2010, Journal of the American College of Cardiology.

[7]  P. Schwartz,et al.  Can a message from the dead save lives? , 2007, Journal of the American College of Cardiology.

[8]  H. Calkins,et al.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). , 2011, Heart rhythm.

[9]  P. Schwartz.  Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology. , 2010, Journal of the American College of Cardiology.

[10]  R. Ariagno.  Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome , 2008 .

[11]  E. Green,et al.  A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome , 1995, Cell.

[12]  P. Schwartz,et al.  Long QT syndrome: from genetic basis to treatment , 2011 .

[13]  Diana Conte Camerino,et al.  Ion channel pharmacology , 2007, Neurotherapeutics.

[14]  Michael J Ackerman,et al.  Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. , 2007, Journal of the American College of Cardiology.

[15]  C. Antzelevitch.  Cardiac repolarization. The long and short of it. , 2005, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[16]  Peter J. Schwartz,et al.  Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome , 2007, Circulation.

[17]  E. Behr,et al.  The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. , 2008, The Journal of clinical investigation.

[18]  A. Leenhardt,et al.  Catecholaminergic Polymorphic Ventricular Tachycardia , 2012, Circulation. Arrhythmia and electrophysiology.

[19]  A. Wilde,et al.  Catecholaminergic polymorphic ventricular tachycardia in 2012 , 2011 .

[20]  J. Brugada,et al.  Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG , 2003, Circulation.

[21]  Jonathan M. Cordeiro,et al.  Modulation of IKr inactivation by mutation N588K in KCNH2: A link to arrhythmogenesis in short QT syndrome , 2005 .

[22]  C. Antzelevitch,et al.  Short QT syndrome , 2011 .

[23]  R Dumaine,et al.  Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome. , 2005, Cardiovascular research.

[24]  Arthur J Moss,et al.  SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome , 1995, Cell.

[25]  J. Healey,et al.  Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. , 2011, The Canadian journal of cardiology.

[26]  Charles Antzelevitch.  Brugada syndrome. , 2006, Pacing and clinical electrophysiology : PACE.

[27]  D. Corrado,et al.  Sudden cardiac death with normal heart: molecular autopsy. , 2010, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

[28]  L. Crotti.  Pleiotropic mutations in ion channels: what lies behind them? , 2011, Heart rhythm.