S G Priori

Summary

Affiliation: Fondazione Salvatore Maugeri
Country: Italy

Publications

  1. ncbi Task Force on Sudden Cardiac Death, European Society of Cardiology
    S G Priori
    Task Force on Sudden Cardiac Death of the European Society of Cardiology, Fondazione Salvatore Maugeri, University of Pavia, Italy
    Europace 4:3-18. 2002
  2. ncbi Brugada syndrome
    Carlo Napolitano
    Molecular Cardiology Laboratories, IRCCS, Fondazione Salvatore Maugeri, Via Ferrata 8, 27100 Pavia, Italy
    Orphanet J Rare Dis 1:35. 2006
  3. ncbi A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy
    Circ Res 96:800-7. 2005
  4. ncbi Genetic defects of cardiac ion channels. The hidden substrate for torsades de pointes
    Silvia G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri and University of Pavia, Pavia, Italy
    Cardiovasc Drugs Ther 16:89-92. 2002
  5. ncbi Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione S Maugeri, University of Pavia, Pavia, Italy
    Circulation 106:69-74. 2002
  6. ncbi Policy statement: ESC-ERC recommendations for the use of automated external defibrillators (AEDs) in Europe
    Silvia G Priori
    European Society of Cardilogy, Alice, France
    Resuscitation 60:245-52. 2004
  7. ncbi ESC-ERC recommendations for the use of automated external defibrillators (AEDs) in Europe
    Silvia G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
    Eur Heart J 25:437-45. 2004
  8. ncbi Medical Practice Guidelines. Separating science from economics
    Silvia G Priori
    Molecular Cardiology, Maugeri Foundation, Pavia, Italy
    Eur Heart J 24:1962-4. 2003
  9. ncbi To replace or not to replace: a systematic approach to respond to device advisories
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy
    J Cardiovasc Electrophysiol 20:164-70. 2009
  10. ncbi [Task Force on Sudden Cardiac Death, European Society of Cardiology. Summary of recommendations]
    S G Priori
    Cardiologia Molecolare IRCCS Fondazione S. Maugeri Via Ferrata, 8 27100 Pavia
    Ital Heart J Suppl 3:1051-65. 2002

Detail Information

Publications94

  1. ncbi Task Force on Sudden Cardiac Death, European Society of Cardiology
    S G Priori
    Task Force on Sudden Cardiac Death of the European Society of Cardiology, Fondazione Salvatore Maugeri, University of Pavia, Italy
    Europace 4:3-18. 2002
    ....
  2. ncbi Brugada syndrome
    Carlo Napolitano
    Molecular Cardiology Laboratories, IRCCS, Fondazione Salvatore Maugeri, Via Ferrata 8, 27100 Pavia, Italy
    Orphanet J Rare Dis 1:35. 2006
    ..Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences...
  3. ncbi A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy
    Circ Res 96:800-7. 2005
    ....
  4. ncbi Genetic defects of cardiac ion channels. The hidden substrate for torsades de pointes
    Silvia G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri and University of Pavia, Pavia, Italy
    Cardiovasc Drugs Ther 16:89-92. 2002
    ..The future developments in this area of research will lead to the availability of pre-prescription genotyping for the identification of the susceptible subjects and to the development of safer drugs...
  5. ncbi Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione S Maugeri, University of Pavia, Pavia, Italy
    Circulation 106:69-74. 2002
    ..The proportion of patients with CPVT carrying RyR2 mutations is unknown, and the clinical features of RyR2-CPVT as compared with nongenotyped CPVT are undefined...
  6. ncbi Policy statement: ESC-ERC recommendations for the use of automated external defibrillators (AEDs) in Europe
    Silvia G Priori
    European Society of Cardilogy, Alice, France
    Resuscitation 60:245-52. 2004
  7. ncbi ESC-ERC recommendations for the use of automated external defibrillators (AEDs) in Europe
    Silvia G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
    Eur Heart J 25:437-45. 2004
  8. ncbi Medical Practice Guidelines. Separating science from economics
    Silvia G Priori
    Molecular Cardiology, Maugeri Foundation, Pavia, Italy
    Eur Heart J 24:1962-4. 2003
  9. ncbi To replace or not to replace: a systematic approach to respond to device advisories
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy
    J Cardiovasc Electrophysiol 20:164-70. 2009
    ....
  10. ncbi [Task Force on Sudden Cardiac Death, European Society of Cardiology. Summary of recommendations]
    S G Priori
    Cardiologia Molecolare IRCCS Fondazione S. Maugeri Via Ferrata, 8 27100 Pavia
    Ital Heart J Suppl 3:1051-65. 2002
  11. ncbi Inherited arrhythmogenic diseases: the complexity beyond monogenic disorders
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, University of Pavia, Pavia, Italy
    Circ Res 94:140-5. 2004
    ....
  12. ncbi Risk stratification in the long-QT syndrome
    Silvia G Priori
    Department of Molecular Cardiology, Istituto di Ricovero e Cura a Carattere Scientifico Fondazione S Maugeri, University of Pavia, Pavia, Italy
    N Engl J Med 348:1866-74. 2003
    ..We stratified risk according to the genotype, in conjunction with other clinical variables such as sex and the length of the QT interval...
  13. ncbi Natural history of Brugada syndrome: insights for risk stratification and management
    Silvia G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri and University of Pavia, Pavia, Italy
    Circulation 105:1342-7. 2002
    ..Furthermore, the value of programmed electrical stimulation (PES) for risk stratification is highly debated. The objective of this study was to search for novel parameters to identify patients at risk of sudden death...
  14. ncbi Genetics of cardiac arrhythmias and sudden cardiac death
    Silvia G Priori
    Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, and University of Pavia, Italy
    Ann N Y Acad Sci 1015:96-110. 2004
    ....
  15. ncbi Role of genetic analyses in cardiology: part I: mendelian diseases: cardiac channelopathies
    Silvia G Priori
    Molecular Cardiology, Maugeri Foundation, IRCCS, University of Pavia, Pavia, Italy
    Circulation 113:1130-5. 2006
    ....
  16. ncbi Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II
    S G Priori
    Molecular Cardiology and Electrophysiology Laboratory, Fondazione S Maugeri, IRCCS, Pavia, Italy
    Circulation 99:518-28. 1999
    ....
  17. ncbi Low penetrance in the long-QT syndrome: clinical impact
    S G Priori
    Molecular Cardiology and Electrophysiology Laboratory, Fondazione Salvatore Maugeri IRCCS, Pavia, Italy
    Circulation 99:529-33. 1999
    ..We had previously suggested that a larger-than-anticipated number of LQTS patients might be affected without showing clinical signs. We have now exploited the availability of molecular diagnosis to test this hypothesis...
  18. ncbi Genetic arrhythmias
    Silvia G Priori
    Molecular Cardiology, IRCCS S Maugeri Foundation, Pavia, Italy
    Ital Heart J 6:241-8. 2005
    ..In this chapter, the molecular bases, the clinical features and the current therapeutic approach of these syndromes are presented...
  19. ncbi The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge
    S G Priori
    Department of Molecular Cardiology, Fondazione Salvatore Maugeri, IRCCS, Pavia, Italy
    Circulation 102:945-7. 2000
    ....
  20. ncbi Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families
    S G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
    Circulation 102:2509-15. 2000
    ..As a consequence, aggressive management (implantable cardioverter defibrillator) is recommended for both groups...
  21. ncbi Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione Maugeri, University of Pavia, Pavia, Italy
    JAMA 292:1341-4. 2004
    ..Data on the efficacy of beta-blockers in the 3 most common genetic long QT syndrome (LQTS) loci are limited...
  22. ncbi Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    S G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
    Circulation 103:196-200. 2001
    ....
  23. ncbi Concealed arrhythmogenic syndromes: the hidden substrate of idiopathic ventricular fibrillation?
    S G Priori
    Molecular Cardiology, Fondazione Salvatore Maugeri, Via Ferrata 8, 27100 Pavia, Italy
    Cardiovasc Res 50:218-23. 2001
    ..We present data supporting the hypothesis that incompletely penetrant genetic defects may underlie at least some of these unexplained deaths...
  24. ncbi Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels
    Silvia G Priori
    Molecular Cardiology, Istituto di Ricovero e Cura a Carattere Scientifico Fondazione Maugeri, Pavia, Italy
    J Clin Invest 115:2033-8. 2005
    ..In vitro functional characterization of RyR1 and RyR2 mutants is reviewed, with a focus on the contribution that in vitro expression studies have made to our understanding of related human diseases...
  25. ncbi Inherited arrhythmia syndromes: applying the molecular biology and genetic to the clinical management
    Silvia G Priori
    Molecular Cardiology, IRCCS Fondazione S Maugeri, University of Pavia, Via Ferrata 8, 27100 Pavia, Italy
    J Interv Card Electrophysiol 9:93-101. 2003
    ....
  26. ncbi Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias
    P J Schwartz
    Department of Cardiology, Policlinico S Matteo IRCCS and University of Pavia, Pavia, Italy
    Circulation 103:89-95. 2001
    ..Preliminary observations suggested that the conditions ("triggers") associated with cardiac events may in large part be gene specific...
  27. ncbi Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing
    Rong Bai
    Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
    Circ Arrhythm Electrophysiol 2:6-15. 2009
    ..However, because availability of genetic screening is still limited and reimbursement policies are lacking, there is a need of evidence-based criteria to prioritize access to genetic testing for these diseases...
  28. ncbi Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice
    Carlo Napolitano
    Molecular Cardiology, IRCCS Fondazione S Maugeri Foundation, Pavia, Italy
    JAMA 294:2975-80. 2005
    ..In long QT syndrome (LQTS), disease severity and response to therapy vary according to the genetic loci. There exists a critical need to devise strategies to expedite genetic analysis...
  29. ncbi How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome
    Peter J Schwartz
    Department of Cardiology, IRCCS Policlinico S Matteo, Pavia, Italy
    J Cardiovasc Electrophysiol 14:1120-1. 2003
  30. ncbi Should patients with an asymptomatic Brugada electrocardiogram undergo pharmacological and electrophysiological testing?
    Silvia G Priori
    Department of Cardiology, University of Pavia, Pavia, Italy
    Circulation 112:279-92; discussion 279-92. 2005
  31. ncbi Significance of QT dispersion in the long QT syndrome
    C Napolitano
    Molecular Cardiology Laboratories Fondazione Salvatore Maugeri, IRCCS, Pavia, Italy
    Prog Cardiovasc Dis 42:345-50. 2000
    ....
  32. ncbi Catecholaminergic polymorphic ventricular tachycardia
    Nian Liu
    Molecular Cardiology, Fondazione Salvatore Maugeri, Pavia, Italy
    Herz 32:212-7. 2007
    ....
  33. ncbi Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis
    Silvia G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10 10A, Pavia, Italy
    Circ Res 108:871-83. 2011
    ..As of today, the interaction between basic scientists and clinicians to understand CPVT and identify new therapeutic strategies is one of the most compelling examples of the importance of translational research in cardiology...
  34. ncbi Cardiac sodium channel diseases
    Carlo Napolitano
    Molecular Cardiology, Fondazione Salvatore Maugeri, IRCCS, Pavia, Italy
    Clin Chem Lab Med 41:439-44. 2003
    ..It is now appropriate to consider the "sodium channel syndrome" as a unique clinical entity that may manifest itself with a spectrum of possible phenotypes...
  35. ncbi Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome
    Marta Tomas
    Molecular Cardiology Laboratories, IRCCS Salvatore Maugeri Foundation, Pavia, Italy
    J Am Coll Cardiol 55:2745-52. 2010
    ..We investigated the role of nitric oxide 1 adaptor protein (NOS1AP) as a genetic modifier of long QT syndrome (LQTS)...
  36. ncbi Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities
    Oronzo Catalano
    Division of Cardiology, IRCCS Fondazione Salvatore Maugeri, via Maugeri 8, 27100 Pavia, Italy
    Eur Heart J 30:2241-8. 2009
    ..In this study, we carried out detailed assessment of cardiac morphology and function using cardiac magnetic resonance imaging (CMRI)...
  37. ncbi Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia
    Carlo Napolitano
    Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy
    Heart Rhythm 4:675-8. 2007
  38. ncbi Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome
    Peter J Schwartz
    Department of Lung, Blood and Heart, University of Pavia, Pavia, Italy
    Circulation 109:1826-33. 2004
    ..We assessed the long-term efficacy of left cardiac sympathetic denervation (LCSD) in a group of high-risk patients...
  39. ncbi Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia
    Marina Raffaele di Barletta
    Molecular Cardiology, IRCCS Fondazione Maugeri, University of Pavia, Via Ferrata 8 27100, Pavia, Italy
    Circulation 114:1012-9. 2006
    ..The mechanisms leading to the clinical phenotype are still poorly understood because only 1 CASQ2 mutation has been characterized in vitro...
  40. ncbi Genetics of ventricular tachycardia
    Carlo Napolitano
    Molecular Cardiology Laboratories, Instituto di Ricovero e Cura a Carattere Scientifico Fondazione S. Maugeri, Pavia, Italy
    Curr Opin Cardiol 17:222-8. 2002
    ....
  41. ncbi The Brugada syndrome
    Tom Rossenbacker
    Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy
    Curr Opin Cardiol 22:163-70. 2007
    ..In this review, we will focus on recent achievements in the molecular dissection of the disease pathophysiology and on large multicenter studies dealing with prognostic markers and the natural history of the Brugada syndrome...
  42. ncbi [Brugada's syndrome]
    Silvia G Priori
    IRCCS Fondazione Salvatore Maugeri, Dipartimento di Cardiologia, , Pavia
    Recenti Prog Med 94:456-61. 2003
    ..It will be discussed, therefore, the prognostic value of clinical tests, and especially of the programmed electrical stimulation, as prognostic predictors of sudden cardiac death to identify higher risk patients...
  43. ncbi Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor
    Marina Cerrone
    Molecular Cardiology, IRCCS Fondazione S Maugeri, Pavia, Italy
    Circ Res 96:e77-82. 2005
    ..Furthermore, the results show that analogous to what is observed in patients, beta adrenergic stimulation seems ineffective in preventing life-threatening arrhythmias...
  44. ncbi Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy
    Carla Spazzolini
    Section of Cardiology and Department of Cardiology and Molecular Cardiology Laboratory, Fondazione Policinico S Matteo IRCCS and the University of Pavia, Pavia, Italy
    J Am Coll Cardiol 54:832-7. 2009
    ..This study was designed to evaluate the clinical and prognostic aspects of long QT syndrome (LQTS)-related cardiac events that occur in the first year of life (infancy)...
  45. ncbi Romano-Ward and other congenital long QT syndromes
    Raffaella Bloise
    Molecular Cardiology Laboratories, Fondazione Salvatore Maugeri IRCCS, Pavia, Italy
    Cardiovasc Drugs Ther 16:19-23. 2002
    ....
  46. ncbi Long QT syndrome and short QT syndrome: how to make correct diagnosis and what about eligibility for sports activity
    Carlo Napolitano
    Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
    J Cardiovasc Med (Hagerstown) 7:250-6. 2006
    ..A critical appraisal of current recommendations for eligibility to competitive sport is also provided as well as some of the authors' personal opinions on the practice of recreational activities in patients with abnormal repolarization...
  47. ncbi Catecholaminergic polymorphic ventricular tachycardia
    Nian Liu
    Molecular Cardiology, Fondazione Salvatore Maugeri, Pavia, Italy
    Prog Cardiovasc Dis 51:23-30. 2008
    ....
  48. ncbi Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model
    Nian Liu
    Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy
    Circ Res 99:292-8. 2006
    ..6 interaction in RyR2(R4496C+/-) is identical to that of WT both before and after epinephrine and caffeine, thus suggesting that it is unlikely that the R4496C mutation interferes with the RyR2/FKBP12.6 complex...
  49. ncbi Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients
    Yanfei Ruan
    Molecular Cardiology, Fondazione Salvatore Maugeri, Via Maugeri 10 10A, 27100 Pavia, Italy
    Circulation 116:1137-44. 2007
    ..We tested whether the clinical response to Mex in LQT3 could be predicted by the biophysical properties of the different mutations...
  50. ncbi Cost-effectiveness of neonatal ECG screening for the long QT syndrome
    Silvana Quaglini
    Department of Computer Science and Systems, University of Pavia, Italy
    Eur Heart J 27:1824-32. 2006
    ..Appropriate therapy will prevent unnecessary deaths in infants, children, and young adults...
  51. ncbi The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia
    Nicola Monteforte
    Molecular Cardiology Fondazione Salvatore Maugeri, Pavia, Italy
    Pacing Clin Electrophysiol 32:S52-7. 2009
    ..Furthermore the evidence supporting the importance of genetic analysis for risk stratification and therapy selections is reviewed...
  52. ncbi Gene specific therapy for cardiac disease: the case of long QT syndrome
    S G Priori
    Molecular Cardiology Laboratories, Fondazione Salvatore Mangeri, Pavia, Italy
    Rev Port Cardiol 17:III27-38. 1998
    ....
  53. ncbi Disruption of calcium homeostasis and arrhythmogenesis induced by mutations in the cardiac ryanodine receptor and calsequestrin
    Nian Liu
    Molecular Cardiology, Fondazione Salvatore Maugeri, Via Maugeri 10 1 A, 27100 Pavia Italy
    Cardiovasc Res 77:293-301. 2008
    ....
  54. ncbi Gene-specific therapy for inherited arrhythmogenic diseases
    Carlo Napolitano
    Molecular Cardiology, IRCCS Fondazione Maugeri, Pavia, Italy
    Pharmacol Ther 110:1-13. 2006
    ..In this review, we will summarize the current understanding of the molecular bases of inherited arrhythmias, with a specific focus toward discussing the most recent advancements toward the development of gene-specific therapies...
  55. ncbi The fifteen years of discoveries that shaped molecular electrophysiology: time for appraisal
    Silvia G Priori
    Division of Cardiology and Molecular Cardiology, Fondazione Salvatore Maugeri, Via S Maugeri 10 10 degrees, 27100 Pavia, Italy
    Circ Res 107:451-6. 2010
    ....
  56. ncbi Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model
    Nicoletta Rizzi
    Molecular Cardiology, IRCCS Maugeri Foundation, Pavia, Italy
    Circ Res 103:298-306. 2008
    ....
  57. ncbi GPIIb/IIIa polymorphism in patients with myocardial infarction
    Carla Auguadro
    Department of Cardiology, Policlinico di Monza, University of Pavia, Italy
    Acta Cardiol 57:32-3. 2002
  58. ncbi Ryanodine receptor and calsequestrin in arrhythmogenesis: what we have learnt from genetic diseases and transgenic mice
    Nian Liu
    Molecular Cardiology, Fondazione Salvatore Maugeri, Pavia, Italy
    J Mol Cell Cardiol 46:149-59. 2009
    ..In this review we will outline how research has advanced in the understanding of CPVT and we will present how the observations made have disclosed novel arrhythmogenic cascades that are likely to impact acquired heart diseases...
  59. ncbi Long QT syndrome in adults
    Andrew J Sauer
    Cardiology Unit of the Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642 8653, USA
    J Am Coll Cardiol 49:329-37. 2007
    ....
  60. ncbi Long-QT syndrome after age 40
    Ilan Goldenberg
    Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Circulation 117:2192-201. 2008
    ....
  61. ncbi Guidelines for cardiac pacing and cardiac resynchronization therapy: The Task Force for Cardiac Pacing and Cardiac Resynchronization Therapy of the European Society of Cardiology. Developed in collaboration with the European Heart Rhythm Association
    Panos E Vardas
    Department of Cardiology, Heraklion University Hospital, PO Box 1352 Stavrakia, GR-711 10 Heraklion (Crete, Greece
    Eur Heart J 28:2256-95. 2007
  62. ncbi A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia
    Ngai Shing Mok
    Cardiology Team, Department of Medicine and Geriatrics, Princess Margaret Hospital, Lai Chi Kok, Kowloon, Hong Kong, China
    J Cardiovasc Electrophysiol 14:407-11. 2003
    ....
  63. ncbi Molecular and electrophysiological bases of catecholaminergic polymorphic ventricular tachycardia
    Uwais Mohamed
    Division of Cardiology, Department of Medicine, London Health Science Centre, London, Canada
    J Cardiovasc Electrophysiol 18:791-7. 2007
    ..In the present article, we review clinical and molecular understanding of CPVT and discuss the most recent approaches to develop novel therapeutic strategies for the disease...
  64. ncbi Modulating effects of age and gender on the clinical course of long QT syndrome by genotype
    Wojciech Zareba
    Department of Medicine, Heart Research Follow Up Program, Medical Center, University of Rochester School of Medicine, Rochester, NY 14642 8653, USA
    J Am Coll Cardiol 42:103-9. 2003
    ..We aimed to determine whether long QT syndrome (LQTS) genotype has a differential effect on clinical course of disease in male and female children and adults after adjustment for QTc duration...
  65. ncbi Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome
    Ilan Goldenberg
    Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Circulation 117:2184-91. 2008
    ..However, specific risk factors for life-threatening cardiac events in children with this genetic disorder have not been identified...
  66. ncbi Risk of death in the long QT syndrome when a sibling has died
    Elizabeth S Kaufman
    Heart and Vascular Research Center, MetroHealth Campus, Case Western Reserve University, Cleveland, Ohio, USA
    Heart Rhythm 5:831-6. 2008
    ..Sudden death of a sibling is thought to be associated with greater risk of death in long QT syndrome (LQTS). However, there is no evidence of such an association...
  67. ncbi Flecainide test in Brugada syndrome: a reproducible but risky tool
    Maurizio Gasparini
    Cardiac Electrophysiology and Pacing Unit Humanitas Clinical Institute, Rozzano, Milan, Italy
    Pacing Clin Electrophysiol 26:338-41. 2003
    ..Whether a slower rate of drug infusion can lower the risk of VA induction, while maintaining the sensitivity of the test should be explored...
  68. ncbi Proposed diagnostic criteria for the Brugada syndrome: consensus report
    Arthur A M Wilde
    Experimental and Molecular Cardiology Group, Academic Medical Center, Amsterdam, and the Interuniversity Cardiology Institute, The Netherlands
    Circulation 106:2514-9. 2002
  69. ncbi [Brugada's syndrome: epidemiology, risk stratification, and clinical management]
    Massimiliano Grillo
    IRCCS Fondazione S. Maugeri, Via Ferrata, 8 27100 Pavia
    Ital Heart J Suppl 3:919-27. 2002
    ..In the present article we will review the clinical characteristic of Brugada syndrome and point out a possible risk stratification scheme...
  70. ncbi Programmed electrical stimulation in Brugada syndrome: how reproducible are the results?
    Maurizio Gasparini
    Cardiac Electrophysiology and Pacing Unit, Istituto Clinico Humanitas, Milan, Italy
    J Cardiovasc Electrophysiol 13:880-7. 2002
    ..However, the variety of PES protocols and the lack of data relative to a control group or to ventricular arrhythmia reproducibility contribute to a still undefined interpretation of PES outcome in Brugada syndrome...
  71. ncbi A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction
    Ilaria Rivolta
    Department of Pharmacology, College of Physicians and Surgeons of Columbia University, New York, New York 10032, USA
    Physiol Genomics 10:191-7. 2002
    ..The effect of these alterations in channel gating results in an increase in window current that may act to disrupt cardiac repolarization...
  72. ncbi Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel
    Arthur J Moss
    Cardiology Unit of the Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Circulation 105:794-9. 2002
    ..We investigated the clinical features and prognostic implications of mutations involving pore and nonpore regions of the HERG channel in the LQT2 form of this disorder...
  73. ncbi ACC/AHA/ESC guidelines for the management of patients with supraventricular arrhythmias--executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the European Society of Cardiology
    Carina Blomstrom-Lundqvist
    Circulation 108:1871-909. 2003
  74. ncbi ACC/AHA/ESC guidelines for the management of patients with supraventricular arrhythmias--executive summary. a report of the American college of cardiology/American heart association task force on practice guidelines and the European society of cardiology
    Carina Blomstrom-Lundqvist
    J Am Coll Cardiol 42:1493-531. 2003
  75. ncbi Long QT syndrome and pregnancy
    Rahul Seth
    Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642, USA
    J Am Coll Cardiol 49:1092-8. 2007
    ..This study was designed to investigate the clinical course of women with long QT syndrome (LQTS) throughout their potential childbearing years...
  76. ncbi Catecholaminergic polymorphic ventricular tachycardia, recurrent syncope, and implantable loop recorder
    Can Hasdemir
    Cardiac Arrhythmia Research Institute, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    J Cardiovasc Electrophysiol 15:729. 2004
  77. ncbi A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
    Peter J Mohler
    Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
    Proc Natl Acad Sci U S A 101:9137-42. 2004
    ....
  78. ncbi Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan
    Wataru Shimizu
    Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Osaka, Japan
    J Am Coll Cardiol 44:117-25. 2004
    ..We sought to compare the arrhythmic risk and sensitivity to sympathetic stimulation of mutations located in transmembrane regions and C-terminal regions of the KCNQ1 channel in the LQT1 form of congenital long QT syndrome (LQTS)...
  79. ncbi Letter regarding article by Coronel et al, "right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study"
    Silvia G Priori
    Circulation 113:e726; author reply 726-7. 2006
  80. ncbi Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death
    Dmitry Terentyev
    Department of Physiology and Cell Biology, Heart and Lung Research Institute, Ohio State University, Columbus, OH 43210, USA
    Circ Res 98:1151-8. 2006
    ..These results show that intracellular Ca2+ cycling in normal heart relies on an intricate interplay of CASQ2 with the proteins of the RyR2 channel complex and that disruption of these interactions can lead to cardiac arrhythmia...
  81. ncbi Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Cell 119:19-31. 2004
    ..These discoveries establish the importance of Ca(V)1.2 in human physiology and development and implicate Ca(2+) signaling in autism...
  82. ncbi Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes
    Peter J Mohler
    Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
    Proc Natl Acad Sci U S A 101:17533-8. 2004
    ..Together with previous work in neurons, these results in cardiomyocytes suggest that ankyrin-G participates in a common pathway for localization of voltage-gated Na(v) channels at sites of function in multiple excitable cell types...
  83. ncbi Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome
    Andrea Frustaci
    Heart and Great Vessels Department, Attilio Reale, La Sapienza University, Rome, Italy
    Circulation 112:3680-7. 2005
    ..The role of structural heart disease and sodium channel dysfunction in the induction of electrical instability in Brugada syndrome is still debated...
  84. ncbi Molecular underpinning of "good luck"
    Silvia G Priori
    Circulation 114:360-2. 2006
  85. ncbi ACC/AHA/ESC 2006 guidelines for the management of patients with atrial fibrillation-executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the European Society of Cardiology Commi
    Valentin Fuster
    American College of Cardiology, Bethesda, MD 20814, USA
    Eur Heart J 27:1979-2030. 2006
  86. ncbi Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome
    Ghayath Baroudi
    Department of Medicine, Laval University, Québec Heart Institute and Research Centre, Laval Hospital, Sainte Foy
    Can J Cardiol 20:425-30. 2004
    ..Mutations in the SCN5A gene encoding the cardiac voltage-gated Na+ channel (hNav1.5) are associated with Brugada syndrome...
  87. ncbi [Guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Executive summary]
    Douglas P Zipes
    Rev Esp Cardiol 59:1328. 2006
  88. ncbi In silico assessment of Y1795C and Y1795H SCN5A mutations: implication for inherited arrhythmogenic syndromes
    Stefania Vecchietti
    DEIS, Viale Risorgimento, 2, I 40136, Bologna, Italy
    Am J Physiol Heart Circ Physiol 292:H56-65. 2007
    ..For the first time by modeling the effects of flecainide and mexiletine, we are able to gather mechanistic insights on the response to drugs administration observed in affected patients...
  89. ncbi Drug-induced torsades de pointes and implications for drug development
    Robert R Fenichel
    Washington, DC, USA
    J Cardiovasc Electrophysiol 15:475-95. 2004
    ..The final section of the text discusses drug-induced torsades within the larger evaluation of drug-related risks and benefits...
  90. ncbi Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome
    Jenny B Hobbs
    Cardiology Unit of the Department of Medicine, University of Rochester Medical Center, Rochester, NY, USA
    JAMA 296:1249-54. 2006
    ..Among patients with recent syncope, beta-blocker treatment was associated with reduced risk...
  91. ncbi ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Com
    Douglas P Zipes
    J Am Coll Cardiol 48:e247-346. 2006
  92. ncbi ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death--executive summary: A report of the American College of Cardiology/American Heart Association Task Force and the European Societ
    Douglas P Zipes
    Eur Heart J 27:2099-140. 2006
  93. ncbi Catecholaminergic polymorphic ventricular tachycardia: successful emergency treatment with intravenous propranolol
    Gabriella De Rosa
    Pediatric Cardiology, Catholic University Medical School, Rome, Italy
    Pediatr Emerg Care 20:175-7. 2004
    ..Genetic evaluation revealed in this patient-but not in relatives-a mutation in ryanodine receptor gene on chromosome 1...
  94. ncbi Molecular genetics: is it making an impact in the management of inherited arrhythmogenic syndromes?
    Silvia G Priori
    Hellenic J Cardiol 46:83-7. 2005