Ramon Brugada

Summary

Publications

  1. ncbi request reprint Genetics of sudden cardiac death in children and young athletes
    Georgia Sarquella-Brugada
    Arrhythmia Unit, Cardiology Section, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain
    Cardiol Young 23:159-73. 2013
  2. doi request reprint Genetics of arrhythmogenic right ventricular cardiomyopathy
    Oscar Campuzano
    Department of Medicine, Cardiovascular Genetics Center, Institut d Investigació Biomèdica Girona IDIBGI, C Pic de Peguera 15, Girona 17003, Spain
    J Med Genet 50:280-9. 2013
  3. ncbi request reprint Electrocardiogram interpretation and class I blocker challenge in Brugada syndrome
    Ramon Brugada
    Montreal Heart Institute, Montreal, Canada QC H1T 1C8
    J Electrocardiol 39:S115-8. 2006
  4. pmc Short QT syndrome
    Ramon Brugada
    Montreal Heart Institute, Montreal, Que
    CMAJ 173:1349-54. 2005
  5. ncbi request reprint Is atrial fibrillation a genetic disease?
    Ramon Brugada
    Masonic Medical Research Laboratory, Utica, New York, USA
    J Cardiovasc Electrophysiol 16:553-6. 2005
  6. ncbi request reprint Brugada syndrome: report of the second consensus conference
    Charles Antzelevitch
    Masonic Medical Research Laboratory, Utica, NY 13501, USA
    Heart Rhythm 2:429-40. 2005
  7. pmc Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction
    Dan Hu
    Masonic Medical Research Laboratory, Utica, New York, USA
    Heart Rhythm 4:1072-80. 2007
  8. doi request reprint Sex-related differences in prognosis after myocardial infarction: changes from 1978 to 2007
    Maria Grau
    Program of Research in Inflammatory and Cardiovascular Disorders RICAD, Cardiovascular Epidemiology and Genetics, IMIM, 88 Dr Aiguader Street, 08003, Barcelona, Spain
    Eur J Epidemiol 27:847-55. 2012
  9. ncbi request reprint Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome
    Kui Hong
    Molecular Genetics, Masonic Medical Research Laboratory, 2150 Bleecker Street, Utica, NY 13501, USA
    J Mol Cell Cardiol 38:555-60. 2005
  10. pmc Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations
    Kui Hong
    Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA
    Circulation 110:3023-7. 2004

Research Grants

  1. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2001
  2. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2003
  3. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2002
  4. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2004

Detail Information

Publications44

  1. ncbi request reprint Genetics of sudden cardiac death in children and young athletes
    Georgia Sarquella-Brugada
    Arrhythmia Unit, Cardiology Section, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain
    Cardiol Young 23:159-73. 2013
    ..We review main causes of sudden cardiac death in relation to its genetics and diagnostic work-up..
  2. doi request reprint Genetics of arrhythmogenic right ventricular cardiomyopathy
    Oscar Campuzano
    Department of Medicine, Cardiovascular Genetics Center, Institut d Investigació Biomèdica Girona IDIBGI, C Pic de Peguera 15, Girona 17003, Spain
    J Med Genet 50:280-9. 2013
    ..Despite continuous improvements, current genotype-phenotype studies have not contributed yet to establish a genetic risk stratification of the disease...
  3. ncbi request reprint Electrocardiogram interpretation and class I blocker challenge in Brugada syndrome
    Ramon Brugada
    Montreal Heart Institute, Montreal, Canada QC H1T 1C8
    J Electrocardiol 39:S115-8. 2006
    ..Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. Circulation 2004;110(19):3023]...
  4. pmc Short QT syndrome
    Ramon Brugada
    Montreal Heart Institute, Montreal, Que
    CMAJ 173:1349-54. 2005
    ..Here we review the current understanding of the pathophysiology, clinical presentation and treatment of short QT syndrome...
  5. ncbi request reprint Is atrial fibrillation a genetic disease?
    Ramon Brugada
    Masonic Medical Research Laboratory, Utica, New York, USA
    J Cardiovasc Electrophysiol 16:553-6. 2005
    ..Therefore, as data keep unraveling, clinicians can expect that soon better therapeutic and preventive options for atrial fibrillation will emerge from basic science...
  6. ncbi request reprint Brugada syndrome: report of the second consensus conference
    Charles Antzelevitch
    Masonic Medical Research Laboratory, Utica, NY 13501, USA
    Heart Rhythm 2:429-40. 2005
    ....
  7. pmc Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction
    Dan Hu
    Masonic Medical Research Laboratory, Utica, New York, USA
    Heart Rhythm 4:1072-80. 2007
    ..Ventricular tachycardia (VT) and ventricular fibrillation (VF) complicating Brugada syndrome, a genetic disorder linked to SCN5A mutations, and VF complicating acute myocardial infarction (AMI) both have been linked to phase 2 reentry...
  8. doi request reprint Sex-related differences in prognosis after myocardial infarction: changes from 1978 to 2007
    Maria Grau
    Program of Research in Inflammatory and Cardiovascular Disorders RICAD, Cardiovascular Epidemiology and Genetics, IMIM, 88 Dr Aiguader Street, 08003, Barcelona, Spain
    Eur J Epidemiol 27:847-55. 2012
    ..Long-term prognosis did not improve in either men or women, indicating that secondary prevention should be reinforced to achieve consistent reductions in the number of cardiovascular events...
  9. ncbi request reprint Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome
    Kui Hong
    Molecular Genetics, Masonic Medical Research Laboratory, 2150 Bleecker Street, Utica, NY 13501, USA
    J Mol Cell Cardiol 38:555-60. 2005
    ..The deletion of fragments of segments 2 and 3 of Domain IV leads to complete loss of function, consistent with the biophysical data found in several mutations causing BS...
  10. pmc Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations
    Kui Hong
    Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA
    Circulation 110:3023-7. 2004
    ..Sodium channel blockers are effective in unmasking carriers of the disease. However, the value of the test remains controversial...
  11. ncbi request reprint Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:
    Kui Hong
    Molecular Genetics Program, Masonic Medical Research Laboratory, Utica, New York 13501, USA
    J Cardiovasc Electrophysiol 15:64-9. 2004
    ..This ECG pattern often is concealed but can be unmasked using potent sodium channel blockers. Like congenital long QT syndrome type 3 (LQT3) and sudden unexpected death syndrome, Brugada syndrome has been linked to mutations in SCN5A...
  12. ncbi request reprint Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association
    Charles Antzelevitch
    Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA
    Circulation 111:659-70. 2005
    ....
  13. doi request reprint A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation
    Begona Benito
    Cardiovascular Genetics Center, Montreal Heart Institute, University of Montreal, Montreal, Canada
    Heart Rhythm 5:1434-40. 2008
    ..Familial atrial fibrillation (AF), previously considered a potassium channelopathy, has recently been related to sodium genetic variants, both in isolated forms and in patients with underlying heart disease...
  14. ncbi request reprint Channelopathies: a new category of diseases causing sudden death
    Josep Brugada
    Thorax Institute, Hospital Clinic, University of Barcelona, Spain
    Herz 32:185-91. 2007
    ..Relating genetic modification and dysfunction allows to study the substrate for a disease, understand the physiopathologic mechanism and look for appropriate therapies...
  15. pmc Brugada syndrome: from cell to bedside
    Charles Antzelevitch
    Masonic Medical Research Laboratory, Utica, NY 13501, USA
    Curr Probl Cardiol 30:9-54. 2005
    ....
  16. pmc Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome
    Jonathan M Cordeiro
    Department of Experimental Cardiology, Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA
    Circulation 114:2026-33. 2006
    ..We report the first Brugada syndrome family with compound heterozygous mutations in SCN5A. The proband inherited 1 mutation from each parent and transmitted 1 to each daughter...
  17. ncbi request reprint Short QT syndrome and atrial fibrillation caused by mutation in KCNH2
    Kui Hong
    Molecular Genetics, Masonic Medical Research Laboratory, Utica, New York, USA
    J Cardiovasc Electrophysiol 16:394-6. 2005
    ..A genetic basis has been identified linking the disease to mutations in KCNH2 in the familial forms and a mutation in KCNQ1 in a sporadic form of the disease...
  18. ncbi request reprint Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest
    Josep Brugada
    Arrhythmia Section, Cardiovascular Institute, Hospital Clinic, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain
    Circulation 108:3092-6. 2003
    ..We analyzed a large cohort of patients with Brugada syndrome without previous cardiac arrest to understand the determinants of prognosis...
  19. pmc Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel
    Hector M Barajas-Martínez
    Masonic Medical Research Laboratory, Utica, New York, USA
    Circ Res 103:396-404. 2008
    ..These findings suggest caution when treating patients carrying such genetic variations with Class I antiarrhythmic drugs...
  20. ncbi request reprint De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero
    Kui Hong
    Masonic Medical Research Laboratory, Utica, NY, USA
    Cardiovasc Res 68:433-40. 2005
    ..We describe a genetic basis for atrial fibrillation and short QT syndrome in utero. Heterologous expression of the mutant channel was used to define the physiological consequences of the mutation...
  21. pmc An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
    Jamie D Kapplinger
    Department of Medicine, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA
    Heart Rhythm 7:33-46. 2010
    ..Brugada syndrome (BrS) is a common heritable channelopathy. Mutations in the SCN5A-encoded sodium channel (BrS1) culminate in the most common genotype...
  22. ncbi request reprint Brugada syndrome: 12 years of progression
    Kui Hong
    Masonic Medical Research Laboratory, Utica, NY 13501, USA
    Acta Med Okayama 58:255-61. 2004
    ..However, with the further collection of data, the longer follow-up and the continued interest from the basic science world we will have the necessary tools to the successful unraveling of the disease...
  23. ncbi request reprint Sudden death associated with short-QT syndrome linked to mutations in HERG
    Ramon Brugada
    Molecular Genetics Program, Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA
    Circulation 109:30-5. 2004
    ..The present study describes the genetic basis for a new clinical entity characterized by sudden death and short-QT intervals in the ECG...
  24. ncbi request reprint Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3
    Josep Brugada
    Arrhythmia Section, Cardiovascular Institute, Hospital Clinic, University of Barcelona, Spain
    Circulation 105:73-8. 2002
    ....
  25. ncbi request reprint Brugada syndrome: 1992-2002: a historical perspective
    Charles Antzelevitch
    Masonic Medical Research Laboratory, 2150 Bleecker Street, Utica, NY 13501, USA
    J Am Coll Cardiol 41:1665-71. 2003
    ..The purpose of this brief review is to chronicle the historical highlights that have brought us to our present understanding of Brugada syndrome...
  26. doi request reprint A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome
    Helena Riuró
    Cardiovascular Genetics Center, Institut d Investigació Biomédica de Girona, Girona, Spain
    Hum Mutat 34:961-6. 2013
    ..Instead, protein membrane detection experiments suggested that β2D211G decreases Nav 1.5 cell surface expression. The effect of the mutant β2 subunit on the INa strongly suggests that SCN2B is a new candidate gene associated with BrS...
  27. doi request reprint Genetics of familial atrial fibrillation
    Oscar Campuzano
    Cardiovascular Genetics Center, School of Medicine, Universitat de Girona, Girona, Spain
    Europace 11:1267-71. 2009
    ..Therefore, as data keep unravelling, clinicians can expect that soon better therapeutic and preventive options for this arrhythmia will emerge from the discoveries in basic science...
  28. pmc Functional expression of "cardiac-type" Nav1.5 sodium channel in canine intracardiac ganglia
    Fabiana S Scornik
    Masonic Medical Research Laboratory, Utica, New York 13501, USA
    Heart Rhythm 3:842-50. 2006
    ..Scarce information on the cellular components of the intrinsic cardiac ganglia from higher mammals has limited our understanding of the role of the autonomic nervous system in such diseases...
  29. doi request reprint Gender differences in clinical manifestations of Brugada syndrome
    Begona Benito
    Cardiology Department, The Thorax Institute, Hospital Clinic, University of Barcelona, Barcelona, Spain
    J Am Coll Cardiol 52:1567-73. 2008
    ..We sought to assess differences in phenotype and prognosis between men and women in a large population of patients with Brugada syndrome...
  30. pmc DiBAC₄(3) hits a "sweet spot" for the activation of arterial large-conductance Ca²⁺-activated potassium channels independently of the β₁-subunit
    Fabiana S Scornik
    Cardiovascular Genetics Center, Institut de Investigació Biomèdica de Girona, and Department of Medical Sciences, School of Medicine, University of Girona, Girona, Spain
    Am J Physiol Heart Circ Physiol 304:H1471-82. 2013
    ..Arterial BK channel response to DiBAC₄(3) varies across species and/or vascular beds. DiBAC₄(3) unique effects can reveal details of BK channel gating mechanisms and help in the rational design of BK channel activators...
  31. ncbi request reprint The syndrome of right bundle branch block, ST segment elevation in V1 to V3 and sudden death
    Josep Brugada
    Arrhythmia Unit, Cardiovascular Institute, Hospital Clinic, University of Barcelona, Spain
    Cardiovasc Drugs Ther 16:25-7. 2002
  32. doi request reprint Trends in Q-wave acute myocardial infarction case fatality from 1978 to 2007 and analysis of the effectiveness of different treatments
    Cristina Sala
    Centre Atenció Primaria Consell de Cent, Àmbit Barcelona Ciutat, Barcelona, Spain
    Am Heart J 162:444-50. 2011
    ....
  33. doi request reprint Genetics and cardiac channelopathies
    Oscar Campuzano
    Cardiovascular Genetics Center, UdG IdIBGi, University of Girona, Girona, Spain
    Genet Med 12:260-7. 2010
    ..This review focuses on recent advances in the understanding of cardiopathies owing to genetic investigations...
  34. doi request reprint Brugada syndrome
    Begona Benito
    Cardiovascular Genetics Center, Montreal Heart Institute, Montreal, Canada
    Prog Cardiovasc Dis 51:1-22. 2008
    ..Each one of these points is discussed in this review, which intends to provide updated information supplied by recent clinical and basic studies...
  35. doi request reprint Brugada syndrome
    Begona Benito
    Electrophysiology Research Program, Research Center, Montreal Heart Institute, Montreal, Canada
    Rev Esp Cardiol (Engl Ed) 62:1297-315. 2009
    ..This article provides a summary of what is currently known about Brugada syndrome and an overview of the principal preclinical and clinical studies that have made the most significant contributions to our understanding of the condition. ..
  36. doi request reprint Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement
    Josep Brugada
    Paediatric Arrhythmia Unit, Cardiology Department, Hospital Sant Joan de Déu Hospital Clínic, University of Barcelona, 08036 Barcelona, Spain
    Europace 15:1337-82. 2013
    ..The pacing generator size has diminished and the pacing leads have become progressively thinner. These developments have made application of cardiac pacing in children easier although no dedicated paediatric pacing systems exist. ..
  37. ncbi request reprint Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affe
    Stephan E Lehnart
    Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, College of Physicians and Surgeons of Columbia University, P and S 9 401 box 22, 630 W 168 St, New York, NY 10032, USA
    Circulation 116:2325-45. 2007
    ....
  38. doi request reprint Meta-analyses of the association between cytochrome CYP2C19 loss- and gain-of-function polymorphisms and cardiovascular outcomes in patients with coronary artery disease treated with clopidogrel
    Michel Zabalza
    Cardiovascular Epidemiology and Genetics, Institut de Recerca Hospital del Mar, Dr Aiguader 88, Barcelona, Catalonia, Spain
    Heart 98:100-8. 2012
    ..A random-effects model was used to summarise the results. In the presence of between-study heterogeneity, a meta-regression analysis was performed to identify study characteristics explaining this heterogeneity...
  39. doi request reprint Comparison of antiarrhythmic drug therapy and radiofrequency catheter ablation in patients with paroxysmal atrial fibrillation: a randomized controlled trial
    David J Wilber
    Cardiovascular Institute, Department of Medicine, Loyola University Medical Center, 2160 S First Ave, Bldg 110, Room 6232, Maywood, IL 60153, USA
    JAMA 303:333-40. 2010
    ..Antiarrhythmic drugs are commonly used for prevention of recurrent atrial fibrillation (AF) despite inconsistent efficacy and frequent adverse effects. Catheter ablation has been proposed as an alternative treatment for paroxysmal AF...
  40. ncbi request reprint The cardiac sodium channel is post-translationally modified by arginine methylation
    Pedro Beltran-Alvarez
    Cardiovascular Genetics Center, Institut d Investigació Biomèdica de Girona, Hospital Dr Josep Trueta, Girona, Spain
    J Proteome Res 10:3712-9. 2011
    ..5 mutations causing Brugada and long QT type 3 syndromes, respectively. Our work describes for the first time arginine methylation in the voltage-gated ion channel superfamily...
  41. doi request reprint Brugada syndrome with marked conduction disease: dual implications of a SCN5A mutation
    Gabriel Vorobiof
    Electrophysiology Service and Cardiology Unit, Department of Medicine, University of Rochester Medical Center, Rochester, New York, USA
    Pacing Clin Electrophysiol 31:630-4. 2008
    ..This finding highlights the phenotypic heterogeneity of novel SCN5A mutations...
  42. doi request reprint Nestin (+) stem cells independently contribute to neural remodelling of the ischemic heart
    Pauline C Beguin
    Research Center, Montreal Heart Institute, Montreal, Quebec, Canada
    J Cell Physiol 226:1157-65. 2011
    ....
  43. doi request reprint Current electrocardiographic criteria for diagnosis of Brugada pattern: a consensus report
    Antonio Bayes de Luna
    Institut Català Ciències Cardiovasculars Hospital Sant Pau, Barcelona, Spain
    J Electrocardiol 45:433-42. 2012
    ..Also discussed is the concept of Brugada phenocopies that are ECG patterns characteristic of Brugada pattern that may appear and disappear in relation with multiple causes but are not related with Brugada syndrome...
  44. ncbi request reprint Shocking truths about implantable cardioverter defibrillator monitoring zones
    Fadi Mansour
    Electrophysiology Service, Montreal Heart Institute, Montreal, Quebec, Canada
    Pacing Clin Electrophysiol 30:1146-8. 2007
    ..In the absence of a monitoring zone, device therapy would not have been expected. We explore the mechanisms by which monitoring zones could potentially contribute to inappropriate ICD therapy and offer trouble-shooting tips...

Research Grants4

  1. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2001
    ....
  2. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2003
    ....
  3. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2002
    ....
  4. MOLECULAR GENETIC BASIS FOR FAMILIAL ATRIAL FIBRILLATION
    RAMON BRUGADA TERRADELLAS; Fiscal Year: 2004
    ....