Multifocal Ectopic Purkinje-related Premature Contractions a New Scn5a-related Cardiac Channelopathy

Objectives The aim of this study was to describe a new familial cardiac phenotype and to elucidate the electrophysiological mechanism responsible for the disease.

[1]  J. Caldwell,et al.  SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. , 2011, Journal of the American College of Cardiology.

[2]  Ana Morales,et al.  SCN5A Rare Variants in Familial Dilated Cardiomyopathy Decrease Peak Sodium Current Depending on the Common Polymorphism H558R and Common Splice Variant Q1077del , 2010, Clinical and translational science.

[3]  N. Norton,et al.  Rare Variant Mutations in Pregnancy-Associated or Peripartum Cardiomyopathy , 2010, Circulation.

[4]  T. Jespersen,et al.  Inherited Cardiac Diseases Caused by Mutations in the Nav1.5 Sodium Channel , 2010, Journal of cardiovascular electrophysiology.

[5]  G. Hindricks,et al.  Catheter Ablation of Recurrent Scar‐Related Ventricular Tachycardia Using Electroanatomical Mapping and Irrigated Ablation Technology: Results of the Prospective Multicenter Euro‐VT‐Study , 2010, Journal of cardiovascular electrophysiology.

[6]  Michael Christiansen,et al.  The genetic basis of long QT and short QT syndromes: A mutation update , 2009, Human mutation.

[7]  A. Wilde,et al.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. , 2009, Heart rhythm.

[8]  G. Steinbeck,et al.  Different Forms of Ventricular Tachycardia Involving the Left Anterior Fascicle in Nonischemic Cardiomyopathy: Critical Sites of the Reentrant Circuit in Low‐Voltage Areas , 2009, Journal of cardiovascular electrophysiology.

[9]  E. Kaufman.  Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. , 2009, Heart rhythm.

[10]  Henggui Zhang,et al.  Optimal velocity and safety of discontinuous conduction through the heterogeneous Purkinje-ventricular junction. , 2009, Biophysical journal.

[11]  N. Makita.  Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific? , 2009, Circulation journal : official journal of the Japanese Circulation Society.

[12]  Lin Wu,et al.  Role of late sodium current in modulating the proarrhythmic and antiarrhythmic effects of quinidine. , 2008, Heart rhythm.

[13]  T. Zimmer,et al.  SCN5A channelopathies--an update on mutations and mechanisms. , 2008, Progress in biophysics and molecular biology.

[14]  H. Wichmann,et al.  Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. , 2008, The Journal of clinical investigation.

[15]  R. Hershberger,et al.  Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy , 2008, Clinical and translational science.

[16]  A. Wilde,et al.  Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. , 2008, Trends in cardiovascular medicine.

[17]  G. Kay,et al.  Ventricular Tachycardia Originating From the Posterior Papillary Muscle in the Left Ventricle: A Distinct Clinical Syndrome , 2008, Circulation. Arrhythmia and electrophysiology.

[18]  A. George,et al.  Divergent Biophysical Defects Caused by Mutant Sodium Channels in Dilated Cardiomyopathy With Arrhythmia , 2008, Circulation research.

[19]  Ferhaan Ahmad,et al.  Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. , 2008, Journal of molecular and cellular cardiology.

[20]  Jeffrey L. Anderson,et al.  Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. , 2005, JAMA.

[21]  L. Mestroni,et al.  SCN5A Mutation Associated With Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia , 2004, Circulation.

[22]  R. Winslow,et al.  A computational model of the human left-ventricular epicardial myocyte. , 2004, Biophysical journal.

[23]  E. Génin,et al.  Estimating the age of rare disease mutations: the example of Triple-A syndrome , 2004, Journal of Medical Genetics.

[24]  Yuan-Ping Pang,et al.  ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating , 2004, Nature Genetics.

[25]  D. Roden.  Human genomics and its impact on arrhythmias. , 2004, Trends in cardiovascular medicine.

[26]  W. Stevenson,et al.  Identification and Ablation of Three Types of Ventricular Tachycardia Involving the His‐Purkinje System in Patients with Heart Disease , 2004, Journal of cardiovascular electrophysiology.

[27]  Michael C Sanguinetti,et al.  Voltage-dependent profile of human ether-a-go-go-related gene channel block is influenced by a single residue in the S6 transmembrane domain. , 2003, Molecular pharmacology.

[28]  J. Papp,et al.  Comparison of the Effect of Class IA Antiarrhythmic Drugs on Transmembrane Potassium Currents in Rabbit Ventricular Myocytes , 2003, Journal of cardiovascular pharmacology and therapeutics.

[29]  D. Escande,et al.  Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease. , 2003, Journal of the American College of Cardiology.

[30]  A. Gramolini,et al.  Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death , 2003, Nature.

[31]  Y. Iesaka,et al.  Demonstration of diastolic and presystolic Purkinje potentials as critical potentials in a macroreentry circuit of verapamil-sensitive idiopathic left ventricular tachycardia. , 2000, Journal of the American College of Cardiology.

[32]  C. Wippermann,et al.  Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe , 2000, Heart.

[33]  I. V. Van Gelder,et al.  Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. , 1999, Cardiovascular research.

[34]  A. Wilde,et al.  Cardiac conduction defects associate with mutations in SCN5A , 1999, Nature Genetics.

[35]  H. Wellens,et al.  Radiofrequency Catheter Ablation of Idiopathic Ventricular Tachycardia Originating in the Anterior Fascicle of the Left Bundle Branch , 1996, Journal of cardiovascular electrophysiology.

[36]  D. Roden,et al.  Extracellular potassium modulation of drug block of IKr. Implications for torsade de pointes and reverse use-dependence. , 1996, Circulation.

[37]  D. Snyders,et al.  Effects of quinidine on the sodium current of guinea pig ventricular myocytes. Evidence for a drug-associated rested state with altered kinetics. , 1990, Circulation research.

[38]  D. Roden,et al.  Quinidine delays IK activation in guinea pig ventricular myocytes. , 1988, Circulation research.

[39]  J. Salata,et al.  Effects of Quinidine on Action Potentials and Ionic Currents in Isolated Canine Ventricular Myocytes , 1988, Circulation research.

[40]  W. Giles,et al.  Quinidine-induced inhibition of transient outward current in cardiac muscle. , 1987, The American journal of physiology.

[41]  D DiFrancesco,et al.  A model of cardiac electrical activity incorporating ionic pumps and concentration changes. , 1985, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

[42]  J. Towbin,et al.  An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. , 2010, Heart rhythm.