arrhythmogenic right ventricular dysplasia

Summary

Summary: A congenital cardiomyopathy in which transmural infiltration of adipose tissue results in weakness and aneurysmal bulging of the infundibulum, apex, and posterior basilar region of the right ventricle and leads to ventricular tachycardia arising in the right ventricle. (Dorland, 28th ed)

Top Publications

  1. pmc Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria
    Frank I Marcus
    University of Arizona, Tucson, Ariz, USA
    Circulation 121:1533-41. 2010
  2. doi Load-reducing therapy prevents development of arrhythmogenic right ventricular cardiomyopathy in plakoglobin-deficient mice
    Larissa Fabritz
    Department of Cardiology and Angiology, Hospital of the University of Muenster, Germany
    J Am Coll Cardiol 57:740-50. 2011
  3. ncbi Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
    Kalliopi Pilichou
    Department of Biology, University of Padua Medical School, Padua, Italy
    Circulation 113:1171-9. 2006
  4. ncbi A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Paul A van der Zwaag
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mutat 30:1278-83. 2009
  5. doi Arrhythmogenic right ventricular cardiomyopathy
    Cristina Basso
    University of Padua Medical School, Padua, Italy
    Lancet 373:1289-300. 2009
  6. doi The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease
    Mario Delmar
    Division of Cardiovascular Medicine, University of Michigan Medical School, Ann Arbor, Mich, USA
    Circ Res 107:700-14. 2010
  7. ncbi Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Srijita Sen-Chowdhry
    Cardiology In The Young, The Heart Hospital, University College London, London, United Kingdom
    J Am Coll Cardiol 50:1813-21. 2007
  8. doi De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
    Baerbel Klauke
    Herz and Diabeteszentrum NRW, Klinik f Thorax und Kardiovaskularchirurgie, Erich und Hanna Klessmann Institutfür Kardiovaskulaere Forschung und Entwicklung Klinik fuer angeborene Herzfehler, Georgstrasse 11, Bad Oeynhausen, Germany
    Hum Mol Genet 19:4595-607. 2010
  9. ncbi Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)
    Starr R Kaplan
    Department of Pathology and Center for Cardiovascular Research, Washington University School of Medicine, St Louis, Missouri 63100, USA
    Heart Rhythm 1:3-11. 2004
  10. pmc Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy
    Tianhong Xu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    J Am Coll Cardiol 55:587-97. 2010

Detail Information

Publications228 found, 100 shown here

  1. pmc Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria
    Frank I Marcus
    University of Arizona, Tucson, Ariz, USA
    Circulation 121:1533-41. 2010
    ..Consequently, the 1994 criteria were highly specific but lacked sensitivity for early and familial disease...
  2. doi Load-reducing therapy prevents development of arrhythmogenic right ventricular cardiomyopathy in plakoglobin-deficient mice
    Larissa Fabritz
    Department of Cardiology and Angiology, Hospital of the University of Muenster, Germany
    J Am Coll Cardiol 57:740-50. 2011
    ..We used a murine model of arrhythmogenic right ventricular cardiomyopathy (ARVC) to test whether reducing ventricular load prevents or slows development of this cardiomyopathy...
  3. ncbi Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
    Kalliopi Pilichou
    Department of Biology, University of Padua Medical School, Padua, Italy
    Circulation 113:1171-9. 2006
    ..Therefore, desmoglein-2 (DSG2), the only desmoglein isoform expressed in cardiac myocytes, was screened in subjects with ARVC...
  4. ncbi A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Paul A van der Zwaag
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mutat 30:1278-83. 2009
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death...
  5. doi Arrhythmogenic right ventricular cardiomyopathy
    Cristina Basso
    University of Padua Medical School, Padua, Italy
    Lancet 373:1289-300. 2009
    ..Cascade genetic screening of family members of gene-positive probands allows the identification of asymptomatic carriers who would require lifelong follow-up due to the age-related penetrance...
  6. doi The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease
    Mario Delmar
    Division of Cardiovascular Medicine, University of Michigan Medical School, Ann Arbor, Mich, USA
    Circ Res 107:700-14. 2010
    ....
  7. ncbi Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Srijita Sen-Chowdhry
    Cardiology In The Young, The Heart Hospital, University College London, London, United Kingdom
    J Am Coll Cardiol 50:1813-21. 2007
    ....
  8. doi De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
    Baerbel Klauke
    Herz and Diabeteszentrum NRW, Klinik f Thorax und Kardiovaskularchirurgie, Erich und Hanna Klessmann Institutfür Kardiovaskulaere Forschung und Entwicklung Klinik fuer angeborene Herzfehler, Georgstrasse 11, Bad Oeynhausen, Germany
    Hum Mol Genet 19:4595-607. 2010
    ..Thus, the gene coding for desmin appears to be a novel ARVC gene, which should be included in molecular genetic screening of ARVC patients...
  9. ncbi Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)
    Starr R Kaplan
    Department of Pathology and Center for Cardiovascular Research, Washington University School of Medicine, St Louis, Missouri 63100, USA
    Heart Rhythm 1:3-11. 2004
    ....
  10. pmc Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy
    Tianhong Xu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    J Am Coll Cardiol 55:587-97. 2010
    ..The aim of this study was to define the genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC)...
  11. ncbi Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression
    Srijita Sen-Chowdhry
    The Heart Hospital, University College London, United Kingdom
    Circulation 115:1710-20. 2007
    According to clinical-pathological correlation studies, the natural history of arrhythmogenic right ventricular dysplasia/cardiomyopathy is purported to progress from localized to global right ventricular dysfunction, followed by left ..
  12. ncbi Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Zhao Yang
    Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    Circ Res 99:646-55. 2006
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive degeneration of the right ventricular myocardium, ventricular arrhythmias, fibrous-fatty replacement, and increased risk of sudden death...
  13. ncbi Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice
    Paulus Kirchhof
    Department of Cardiology and Angiology, Hospital of the University of Muenster, Germany
    Circulation 114:1799-806. 2006
    ..To test the hypothesis that reduced desmosomal protein expression causes ARVC, we studied the cardiac effects of heterozygous plakoglobin deficiency in mice...
  14. pmc Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    A Dénise den Haan
    Department of Medicine Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Circ Cardiovasc Genet 2:428-35. 2009
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited disorder typically caused by mutations in components of the cardiac desmosome...
  15. ncbi Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks
    Ellen Otten
    Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands
    Heart Rhythm 7:1058-64. 2010
    ..Right ventricular involvement including an arrhythmogenic right ventricular cardiomyopathy (ARVC)(-like) phenotype has occasionally been described in DES mutation-carrying patients...
  16. ncbi Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease
    Petros Syrris
    Department of Medicine, The Heart Hospital, University College London and University College London Hospitals Trust, 16 18 Westmoreland Street, London W1G 8PH, UK
    Eur Heart J 28:581-8. 2007
    ..In this study, we aimed to clinically characterize probands and family members carrying a DSG2 mutation...
  17. pmc Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria
    Frank I Marcus
    University of Arizona, Tucson, AZ, USA
    Eur Heart J 31:806-14. 2010
    ..Consequently, the 1994 criteria were highly specific but lacked sensitivity for early and familial disease...
  18. ncbi Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy
    A H Christensen
    Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Denmark
    Clin Genet 80:256-64. 2011
    ..The immunoreactive signal for the desmosomal protein plakoglobin was reduced in mutation carriers. The TMEM43 gene underlies a distinctive form of ARVC which may share a final common pathway with desmosome-associated ARVC...
  19. doi Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
    A H Christensen
    Department of Cardiology, Section 2142, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    J Med Genet 47:736-44. 2010
    ..The disease has been associated with mutations in genes encoding desmosomal proteins...
  20. ncbi Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
    J Peter van Tintelen
    Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Circulation 113:1650-8. 2006
    Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC)...
  21. ncbi Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?
    Alex Hørby Christensen
    Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    Cardiology 115:148-54. 2010
    ..We hypothesized that a Scandinavian ARVC/D population would have a different spectrum of plakophilin-2 (PKP2) mutations and that some of the reported missense mutations may not be pathogenic...
  22. pmc Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
    Carola Hedberg
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
    Eur J Hum Genet 20:984-5. 2012
    ....
  23. pmc Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism
    Calum A Macrae
    Cardiovascular Research Center, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 116:1825-8. 2006
    Mutations in genes encoding desmosomal proteins have been identified as the major cause of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC), in which the right ventricle is "replaced" by fibrofatty tissue, ..
  24. pmc Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy
    Deqiang Li
    Riley Heart Research Center, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Hum Mol Genet 20:4582-96. 2011
    ..These findings have provided further insights for the pathogenesis of ARVC and potential therapeutic interventions...
  25. pmc Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Mark M Awad
    Johns Hopkins University School of Medicine and Johns Hopkins University Cellular and Molecular Medicine Program, Baltimore, MD, USA
    Nat Clin Pract Cardiovasc Med 5:258-67. 2008
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy is an inherited cardiomyopathy estimated to affect approximately 1 in 5,000 individuals...
  26. doi Pathophysiology of arrhythmogenic cardiomyopathy
    Cristina Basso
    Department of Medical Diagnostic Sciences and Special Therapies, University of Padua Medical School, Via A Gabelli, 61 35121 Padova, Italy
    Nat Rev Cardiol 9:223-33. 2012
    ..Crosstalk from the desmosome to the nucleus, gap junctions, and ion channels is under investigation, to move from symptomatic to targeted therapy, with the ultimate aim to stop disease onset and progression...
  27. pmc Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
    Petros Syrris
    Department of Medicine, University College London, United Kingdom
    Am J Hum Genet 79:978-84. 2006
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited myocardial disorder associated with arrhythmias, heart failure, and sudden death...
  28. ncbi Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
    J Peter van Tintelen
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Heart Rhythm 6:1574-83. 2009
    ..Mutations in the gene encoding desmin (DES), a major intermediate filament protein, can underlie this phenotype...
  29. ncbi Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies
    Cristina Basso
    Institute of Pathological Anatomy, University of Padua, Italy
    Eur Heart J 27:1847-54. 2006
    ..The recent discovery of gene mutations encoding intercalated disc proteins prompted us to perform a transmission electron microscopy study on endomyocardial biopsies...
  30. pmc Animal models of arrhythmogenic cardiomyopathy
    Mark D McCauley
    Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    Dis Model Mech 2:563-70. 2009
    ....
  31. doi Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study
    Zahurul A Bhuiyan
    Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Circ Cardiovasc Genet 2:418-27. 2009
    ..major desmosomal genes, Plakophilin-2 (PKP2), Desmoglein-2 (DSG2), and Desmocollin-2 (DSC2), in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients...
  32. doi Cardiac MRI in arrhythmogenic right ventricular cardiomyopathy
    Darra T Murphy
    Department of Radiology, Mater Misericordiae University Hospital, Eccles St, Dublin 7, Ireland
    AJR Am J Roentgenol 194:W299-306. 2010
    ..Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cause of sudden cardiac death in otherwise healthy young adults. This article outlines the spectrum of MRI findings in ARVC using a combination of static and cine images...
  33. ncbi Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria
    Moniek G P J Cox
    Department of Cardiology, University of Medical Center Utrecht, Utrecht, The Netherlands
    J Cardiovasc Electrophysiol 19:775-81. 2008
    ..surviving myocardial bundles embedded in fibrofatty tissue are hallmarks of activation delay in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)...
  34. pmc The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
    Marzia De Bortoli
    Department of Biology, University of Padua, Padua, Italy
    Eur J Hum Genet 18:776-82. 2010
    ....
  35. ncbi Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
    Veronique Fressart
    AP HP, Hopital Pitie Salpetriere, Service de Biochimie, Unité de Cardiogénétique et Myogénétique, Paris, France
    Europace 12:861-8. 2010
    Five desmosomal genes have been recently implicated in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) but the clinical impact of genetics remains poorly understood...
  36. pmc Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
    Nancy D Merner
    Faculty of Medicine, Memorial University, St John s, Newfoundland and Labrador A1B 3V6, Canada
    Am J Hum Genet 82:809-21. 2008
    ....
  37. pmc Arrhythmogenic right ventricular cardiomyopathy/dysplasia
    Gaetano Thiene
    Pathological Anatomy, Department of Medical Diagnostic Sciences and Special Therapies, University of Padua Medical School, Padua, Italy
    Orphanet J Rare Dis 2:45. 2007
    ..Preparticipation screening for sport eligibility has been proven to be effective in detecting asymptomatic patients and sport disqualification has been life-saving, substantially declining sudden death in young athletes...
  38. doi Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise
    Jamie D Kapplinger
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA
    J Am Coll Cardiol 57:2317-27. 2011
    ....
  39. doi Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update
    A Azaouagh
    Department of Medicine, Westgerman Cancer Center, University Hospital Essen, Hufelandstrase 55, 45147, Essen, Germany
    Clin Res Cardiol 100:383-94. 2011
    ..Orthotopic heart transplantation is considered in patients with progressive heart failure and intractable recurrent ventricular arrhythmias...
  40. pmc Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy
    Arnd Heuser
    Max Delbrueck Center for Molecular Medicine, Franz Volhard Clinic, HELIOS Clinics GmbH, Charite, Humboldt University, Berlin, Germany
    Am J Hum Genet 79:1081-8. 2006
    ..These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function...
  41. ncbi Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the Euro
    D Corrado
    Department of Cardiology, University of Padova, Italy
    Circulation 101:E101-6. 2000
    ..Furthermore, availability of an international database will enhance awareness of this largely unrecognized condition among the medical community. Physicians are encouraged to enroll patients in the International Registry of ARVD/C...
  42. ncbi Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment
    Srijita Sen-Chowdhry
    Imperial College, London, UK
    Annu Rev Med 61:233-53. 2010
    ..Development of a prospectively validated risk-stratification algorithm for the full disease spectrum remains the foremost clinical challenge...
  43. pmc Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
    Eduardo Garcia-Gras
    Section of Cardiology and Center for Cardiac Development, Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Invest 116:2012-21. 2006
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is a genetic disease caused by mutations in desmosomal proteins...
  44. ncbi Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study
    D Corrado
    University of Padua Medical Center, Italy
    J Am Coll Cardiol 30:1512-20. 1997
    ..The aim of the present investigation was to redefine the clinicopathologic profile of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC), with special reference to disease progression and left ventricular (LV) involvement...
  45. pmc Disparate effects of different mutations in plakoglobin on cell mechanical behavior
    Hayden Huang
    Department of Medicine, Brigham and Women s Hospital, Cambridge, Massachusetts, USA
    Cell Motil Cytoskeleton 65:964-78. 2008
    ..These results indicate that different mutations in plakoglobin have markedly disparate effects on cell mechanical behavior, suggesting complex biomechanical roles for this protein...
  46. doi Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy
    Srijita Sen-Chowdhry
    Department of Epidemiology, Imperial College, St Mary s Campus, London, United Kingdom
    Circ Cardiovasc Genet 3:323-30. 2010
    ..Mendelian inheritance patterns are accompanied by incomplete penetrance and variable expressivity, the latter manifesting as diversity in morphology, arrhythmic burden, and clinical outcomes...
  47. pmc Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes
    Matthew Taylor
    Adult Medical Genetics Program and Division of Cardiology, University of Colorado Denver, Aurora, USA
    Circulation 124:876-85. 2011
    ..We evaluated the cardiomyopathy gene titin (TTN) as a candidate ARVC gene because of its proximity to an ARVC locus at position 2q32 and the connection of the titin protein to the transitional junction at intercalated disks...
  48. doi Guidelines for the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy
    Warren Smith
    Green Lane Cardiovascular Service, Cardiology Department, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand
    Heart Lung Circ 20:757-60. 2011
    ..It most commonly presents with palpitations or syncope but sudden death may occur, especially in young males...
  49. doi Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention
    Aditya Bhonsale
    Division of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    J Am Coll Cardiol 58:1485-96. 2011
    ..study was to define the incidence and predictors of implantable cardioverter-defibrillator (ICD) therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) after placement of an ICD for primary prevention.
  50. pmc The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)
    Kathy A Hodgkinson
    Clinical Epidemiology Unit, Memorial University Health Sciences Centre, St John s, Newfoundland, Canada A1B 3V6
    J Am Coll Cardiol 45:400-8. 2005
    ..We sought to determine the impact of implantable cardioverter-defibrillator (ICD) therapy in patients with familial arrhythmogenic right ventricular cardiomyopathy (ARVC)...
  51. doi Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study
    Fabio Tavora
    Department of Pathology, Escola Paulista de Medicina, UNIFESP, São Paulo 04023 900, Brazil
    Hum Pathol 43:592-6. 2012
    ..There is a trend that univentricular involvement occurs at an earlier age and that right ventricular involvement shows more inflammation, suggesting different stages of disease...
  52. ncbi Sarcoid myocarditis with ventricular tachycardia mimicking ARVD/C
    Galina A Ladyjanskaia
    Department of Cardiology, Division Heart and Lungs, University Medical Center, Utrecht, The Netherlands
    J Cardiovasc Electrophysiol 21:94-8. 2010
    ..This patient had a malignant clinical course with initial diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); however, at postmortem histopathology revealed epithelioid granulomas ..
  53. doi Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria
    Giovanni Quarta
    Heart Hospital, University College London Hospitals Trust, London, UK
    Circulation 123:2701-9. 2011
    ..With recognition of disease-causing genes in arrhythmogenic right ventricular cardiomyopathy, mutation analysis is being applied...
  54. doi Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy
    Julie Munkholm
    Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Denmark
    Am J Cardiol 109:272-5. 2012
    ....
  55. pmc Efficacy of antiarrhythmic drugs in arrhythmogenic right ventricular cardiomyopathy: a report from the North American ARVC Registry
    Gregory M Marcus
    Division of Cardiology, Electrophysiology Section, University of California, San Francisco, CA 94143 1354, USA
    J Am Coll Cardiol 54:609-15. 2009
    ..This study sought to examine the efficacy of empiric antiarrhythmic drugs in a rigorously characterized cohort of arrhythmogenic right ventricular cardiomyopathy (ARVC) patients...
  56. ncbi Adipositas cordis, fatty infiltration of the right ventricle, and arrhythmogenic right ventricular cardiomyopathy. Just a matter of fat?
    Cristina Basso
    Institute of Pathological Anatomy, University of Padua Medical School, Padua 35121, Italy
    Cardiovasc Pathol 14:37-41. 2005
    ....
  57. ncbi Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia
    D O'Donnell
    Department of Cardiology, Freeman Hospital, Newcastle upon Tyne, UK
    Eur Heart J 24:801-10. 2003
    ..The role of ablation in arrhythmogenic right ventricular dysplasia (ARVD) is more limited. As such, differentiating between the two conditions is essential.
  58. ncbi Differential expression of the cardiac ryanodine receptor in normal and arrhythmogenic right ventricular cardiomyopathy canine hearts
    Kathryn M Meurs
    Department of Veterinary Clinical Sciences, College of Veterinary Medicine, The Ohio State University, Columbus, OH 43210, USA
    Hum Genet 120:111-8. 2006
    ..Using this naturally occurring model of canine ARVC, we may have provided new insights into the pathogenesis of this cardiomyopathy...
  59. doi Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study
    Moniek G P J Cox
    Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands
    Circulation 123:2690-700. 2011
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited disease with incomplete penetrance and variable expression...
  60. pmc Cardiac tissue-restricted deletion of plakoglobin results in progressive cardiomyopathy and activation of {beta}-catenin signaling
    Jifen Li
    Center for Translational Medicine, Department of Medicine, Rm 309, College Bldg, 1025 Walnut St, Philadelphia, PA 19107, USA
    Mol Cell Biol 31:1134-44. 2011
    ..This novel model of ARVC demonstrates for the first time how plakoglobin affects β-catenin activity in the heart and its implications for disease pathogenesis...
  61. ncbi Twenty years of progress and beckoning frontiers in cardiovascular pathology: cardiomyopathies
    Gaetano Thiene
    Institute of Pathological Anatomy, University of Padua Medical School, Padua, Italy
    Cardiovasc Pathol 14:165-9. 2005
    ....
  62. ncbi Catheter ablation of stable and unstable ventricular tachycardias in patients with arrhythmogenic right ventricular dysplasia
    Kazuhiro Satomi
    Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    J Cardiovasc Electrophysiol 17:469-76. 2006
    A reentrant circuit within an area of abnormal myocardium is suspected as the origin of ventricular tachycardia (VT) in patients with arrhythmogenic right ventricular dysplasia (ARVD).
  63. doi Molecular genetics and pathogenesis of arrhythmogenic right ventricular cardiomyopathy: a disease of cardiac stem cells
    Raffaella Lombardi
    Center for Cardiovascular Genetics, Institute of Molecular Medicine and Department of Medicine, University of Texas Health Sciences Center at Houston, Texas Heart Institute at St Luke s Epsicopal Hospital, 6770 Bertner Street, Suite C900A, Houston, TX 77030, USA
    Pediatr Cardiol 32:360-5. 2011
    ..Suppression of the canonical Wnt signaling results in a switch to adipogenesis in the second heart field progenitor cells. Accordingly, ARVC is a disease of cardiac progenitor cells that have gone awry and differentiated to adipocytes...
  64. doi Recent progress in the genetics of cardiomyopathy and its role in the clinical evaluation of patients with cardiomyopathy
    Nina Ghosh
    Division of Cardiology, University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, Ontario, Canada
    Curr Opin Cardiol 26:155-64. 2011
    ..This review will provide an overview of the genetic basis of cardiomyopathy with an emphasis on the clinically relevant breakthroughs that have occurred recently and their role in the evaluation of patients with cardiomyopathy...
  65. pmc Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy
    Raffaella Lombardi
    Center for Cardiovascular Genetics, Brown Foundation Institute of Molecular Medicine, The University of Texas Health Sciences Center, 6770 Bertner Street, Houston, TX 77030, USA
    Circ Res 104:1076-84. 2009
    ..We conclude adipocytes in arrhythmogenic right ventricular cardiomyopathy originate from the second heart field cardiac progenitors, which switch to an adipogenic fate because of suppressed canonical Wnt signaling by nuclear plakoglobin...
  66. ncbi Arrhythmogenic right ventricular dysplasia: a United States experience
    Darshan Dalal
    Division of Cardiology, The Johns Hopins University School of Medicine, Baltimore, MD, USA
    Circulation 112:3823-32. 2005
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by right ventricular dysfunction and ventricular arrhythmias...
  67. doi Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria
    Moniek G P J Cox
    Department of Cardiology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands
    Circ Arrhythm Electrophysiol 3:126-33. 2010
    b>Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Diagnostic Task Force Criteria (TFC) proposed in 1994 are highly specific but lack sensitivity...
  68. ncbi Arrhythmogenic right ventricular dysplasia/cardiomyopathy: screening, diagnosis, and treatment
    Philippine Kies
    Department of Cardiology, Leiden University Medical Centre, Leiden, The Netherlands
    Heart Rhythm 3:225-34. 2006
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a heart muscle disorder characterized pathologically by fatty or fibrofatty replacement and electrical instability of the right ventricular myocardium...
  69. ncbi Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia
    Jonathan P Piccini
    Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, 600 N Wolfe Street, Carnegie 592, Baltimore, MD 21287, USA
    Heart Rhythm 2:1188-94. 2005
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden cardiac death...
  70. ncbi Radiofrequency ablation of the ventricular tachycardia with arrhythmogenic right ventricular cardiomyopathy using non-contact mapping
    Yan Yao
    Clinical EP Lab and Cardiac Arrhythmia Service Center, Cardiovascular Institute, Fuwai Heart Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China
    Pacing Clin Electrophysiol 30:526-33. 2007
    ..Intracardiac non-contact mapping provides a rapid and accurate isopotential mapping that facilitates catheter ablation of the ventricular tachyarrhythmias in arrhythmogenic right ventricular cardiomyopathy (ARVC)...
  71. ncbi Short- and long-term success of substrate-based mapping and ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia
    Atul Verma
    Section of Pacing and Electrophysiology, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Circulation 111:3209-16. 2005
    ..instability, or noninducibility may limit ventricular tachycardia (VT) ablation in patients with arrhythmogenic right ventricular dysplasia (ARVD). Substrate-based mapping and ablation may overcome these limitations...
  72. pmc Prolonged RV endocardial activation duration: a novel marker of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Harikrishna Tandri
    Division of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Heart Rhythm 6:769-75. 2009
    Parietal block, defined as intra right ventricular (RV) conduction slowing, is a major diagnostic criterion for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
  73. ncbi New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Moniek G P J Cox
    Department of Cardiology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands
    Circ Arrhythm Electrophysiol 2:524-30. 2009
    ..changes, electric uncoupling, and surviving myocardial bundles in fibrofatty tissue characterize arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)...
  74. doi Quantitative assessment of endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy/dysplasia: an in vitro validation of diagnostic criteria
    Cristina Basso
    Pathological Anatomy, Department of Medico Diagnostic Sciences and Special Therapies, University of Padua Medical School, Padua, Italy
    Eur Heart J 29:2760-71. 2008
    ..The Task Force criteria for the in vivo diagnosis of ARVC/D include tissue characterization by EMB as a major criterion...
  75. ncbi Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia
    C Barahona-Dussault
    Institut de Cardiologie de Montreal, Montreal, Quebec, Canada
    Clin Genet 77:37-48. 2010
    ....
  76. doi Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations
    Lee M Fidler
    Heart Centre Cardiology Division, The Hospital for Sick Children, Toronto, ON, Canada
    J Cell Mol Med 13:4219-28. 2009
    ..Reduced connexin43 expression and localization to the intercalated disk occurs in heterozygous human PKP-2 mutations, potentially explaining the delayed conduction and propensity to develop arrhythmias seen in this disease...
  77. ncbi Epicardial ventricular tachycardia ablation a multicenter safety study
    Frederic Sacher
    Universite Bordeaux II, Hopital Cardiologique du Haut Leveque, Bordeaux Pessac, France
    J Am Coll Cardiol 55:2366-72. 2010
    ..The aim of this study was to perform a systematic evaluation of safety and midterm complications after epicardial ventricular tachycardia (VT) ablation...
  78. pmc Assessment of inflammation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia
    Maria E Campian
    University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands
    Eur J Nucl Med Mol Imaging 37:2079-85. 2010
    ..We aimed to establish whether cardiac inflammation can be assessed non-invasively in ARVC/D patients...
  79. pmc Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?
    Katja Gehmlich
    Institute of Cardiovascular Science, University College London, United Kingdom
    Heart Rhythm 7:1446-53. 2010
    ..Disease-causing mutations in desmosomal genes have been identified. A novel diagnostic feature, loss of immunoreactivity for plakoglobin from the intercalated disks, recently was proposed...
  80. pmc Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations
    Katja Gehmlich
    Institute of Cardiovascular Science, University College London, London, UK
    Cardiovasc Res 90:77-87. 2011
    ..However, the underlying molecular processes are poorly understood...
  81. pmc Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Boon Yew Tan
    Department of Medicine Cardiology, Johns Hopkins University School of Medicine, Rutland Avenue, Baltimore, MD 21205, USA
    J Cardiovasc Transl Res 3:663-73. 2010
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited form of cardiomyopathy with low penetrance and variable expressivity...
  82. ncbi Long-term efficacy of catheter ablation of ventricular tachycardia in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Darshan Dalal
    Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    J Am Coll Cardiol 50:432-40. 2007
    ..the outcomes of radiofrequency catheter ablation (RFA) of ventricular tachycardia (VT) in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients...
  83. ncbi Electrocardiographic features of arrhythmogenic right ventricular dysplasia/cardiomyopathy according to disease severity: a need to broaden diagnostic criteria
    Khurram Nasir
    Department of Medicine, The Johns Hopkins University, Baltimore, MD, USA
    Circulation 110:1527-34. 2004
    ..The purpose of this study was to systematically study diagnostic and prognostic electrocardiographic (ECG) characteristics of arrhythmogenic right ventricle dysplasia/cardiomyopathy (ARVD/C)...
  84. ncbi A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
    Ronny Alcalai
    Department of Medicine Mount Scopus, Jerusalem, Israel
    J Am Coll Cardiol 42:319-27. 2003
    ..The goal of this study was to analyze the genetic disorder of a family with cardiomyopathy, skin disorder, and woolly hair...
  85. ncbi Electroanatomic mapping of endocardial right ventricular activation as a guide for catheter ablation in patients with arrhythmogenic right ventricular dysplasia
    Christopher Reithmann
    Medizinische Klinik I, Klinikum Grosshadern, Universitat Munchen, Munchen, Germany
    Pacing Clin Electrophysiol 26:1308-16. 2003
    b>Arrhythmogenic right ventricular dysplasia is a structural heart disease characterized by fibrofatty degeneration of right ventricular myocardium and arrhythmias of right ventricular origin...
  86. ncbi Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management
    Srijita Sen-Chowdhry
    Department of Cardiology, The Heart Hospital, London, UK
    Am J Med 117:685-95. 2004
    ..Greater awareness of right ventricular dysplasia among physicians and judicious use of implantable cardioverter-defibrillators may help to prevent unnecessary deaths...
  87. ncbi Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    Brenda Gerull
    Max Delbrueck Center for Molecular Medicine, D 13092 Berlin Buch, Germany
    Nat Genet 36:1162-4. 2004
    ..In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations...
  88. ncbi Results of ajmaline testing in patients with arrhythmogenic right ventricular dysplasia-cardiomyopathy
    Stefan Peters
    Klinikum Dorothea Christiane Erxleben gGmbH Quedlinburg, Department of Cardiology, Academic Teaching Hospital of the University Hospital Magdeburg, Ditfurter Weg 24, 06484 Quedlinburg, Germany
    Int J Cardiol 95:207-10. 2004
    An association between arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD/C) and Brugada syndrome can be supposed according to several case reports...
  89. pmc The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14
    D Li
    Department of Medicine, Section of Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 66:148-56. 2000
    ..Chromosomal localization of the ARVD gene is the first step in identification of the genetic defect and the unraveling of the molecular basis responsible for the pathogenesis of the disease...
  90. ncbi Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies
    Domenico Corrado
    Circulation 113:1634-7. 2006
  91. doi Arrhythmogenic right ventricular dysplasia
    Palaniappan Muthappan
    Division of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Prog Cardiovasc Dis 51:31-43. 2008
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle (RV)...
  92. ncbi Magnetic resonance and computed tomography imaging of arrhythmogenic right ventricular dysplasia
    Harikrishna Tandri
    Division of Cardiology, The Johns Hopkins University, Baltimore, Maryland 21287, USA
    J Magn Reson Imaging 19:848-58. 2004
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is a familial cardiomyopathy that causes fibro-fatty replacement of the right ventricle (RV), leading to sudden death due to ventricular arrhythmias...
  93. ncbi MR Imaging of arrhythmogenic right ventricular cardiomyopathy: morphologic findings and interobserver reliability
    David A Bluemke
    Department of Radiology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Cardiology 99:153-62. 2003
    ..However, the reliability of various MR imaging features for diagnosing ARVC/D is unknown. The purpose of this study was to determine which morphologic MR imaging features have the greatest interobserver reliability for diagnosing ARVC/D...
  94. ncbi Advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy
    Stefan Peters
    Klinikum Dorothea Christiane Erxleben gGmbH Quedlinburg, Department of Internal Medicine and Cardiology, Ditfurter Weg 24, 06484, Quedlinburg, Germany
    Int J Cardiol 113:4-11. 2006
    Latest advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD/C) confirm that ARVD/C is not a rare disease (one affected in 1000-1250 inhabitants) and is of familial origin in 50-80% of ..
  95. ncbi Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family
    Prince J Kannankeril
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 9119, USA
    Heart Rhythm 3:939-44. 2006
    ..Mutations in plakophilin-2 (PKP2), a desmosomal protein, have been reported to underlie familial ARVC. We report a novel ARVC PKP2 mutation and present the clinical findings in three female mutation carriers...
  96. doi Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients
    Hiroyuki Konishi
    Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita 12 jo, Nishi 6 choume, Kita ku, Sapporo 060 0812, Japan
    J Biochem 148:617-22. 2010
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is an autosomal dominant heart disease...
  97. ncbi Marked lipomatous infiltration of the right ventricle: MRI findings in relation to arrhythmogenic right ventricular dysplasia
    Robson Macedo
    Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, MRI Bldg, Rm 143, 600 N Wolf St, Baltimore, MD 21287, USA
    AJR Am J Roentgenol 188:W423-7. 2007
    ..for second opinions about fatty infiltration of the right ventricular wall and suspected arrhythmogenic right ventricular dysplasia. CONCLUSION: Lipomatous infiltration with right ventricular thickness > or = 6 mm on MRI but ..
  98. ncbi Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different diseases?
    A P Burke
    Department of Cardiovascular Pathology, Armed Forces Institute of Pathology, Washington, DC 20306 6000, USA
    Circulation 97:1571-80. 1998
    ..The relationship between arrhythmogenic right ventricular cardiomyopathy (ARVC) and pure fat replacement of the right ventricle is unclear...
  99. ncbi Review on the genetics of arrhythmogenic right ventricular dysplasia
    Ewa Moric-Janiszewska
    Department of Biochemistry, Medical University of Silesia, Narcyzow 1, 41 200 Sosnowiec, Poland
    Europace 9:259-66. 2007
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity whose diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and ..
  100. ncbi Arrhythmogenic right ventricular dysplasia: ex vivo and in vivo fat detection with black-blood MR imaging
    Ernesto Castillo
    Russell H Morgan Dept of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, 600 N Wolfe Street, MRI 143 Nelson Basement, Baltimore, MD 21287, USA
    Radiology 232:38-48. 2004
    ..gated spin-echo (SE) and double inversion-recovery fast SE magnetic resonance (MR) imaging in the depiction of intramyocardial fat in cadaveric heart specimens and patients with arrhythmogenic right ventricular dysplasia (ARVD).
  101. pmc Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment
    A A Tsatsopoulou
    Heart 92:1720-3. 2006
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is a genetically determined heart muscle disorder presenting clinically with even lethal ventricular arrhythmias, particularly in the young and athletes...

Research Grants83

  1. Multidisciplinary Study of Right Ventricular Dysplasia
    Wojciech Zareba; Fiscal Year: 2005
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  2. Update and modification of Task Force Criteria for ARVD/C
    Frank Marcus; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): [unreadable] Arrhythmogenic Right Ventricular Dysplasia /Cardiomyopathy (ARVD/C) is a disease characterized by a presence of ventricular arrhythmias originating from the right ventricle ..
  3. Maturation of Normal and Disease-specific Human Stem Cell-derived Cardiomyocytes
    Huei Sheng Vincent Chen; Fiscal Year: 2010
    ..the first cardiac disease-specific iPSC line that produced CMs with pathological signatures of arrhythmogenic right ventricular dysplasia (ARVD)...
  4. A Clinical & Molecular Analysis of the Brugada Syndrome
    Barry London; Fiscal Year: 2003
    ..we identified two other large families and several small families with Brugada syndrome or arrhythmogenic right ventricular dysplasia (ARVD)...
  5. A Clinical & Molecular Analysis of the Brugada Syndrome
    Barry London; Fiscal Year: 2003
    ..we identified two other large families and several small families with Brugada syndrome or arrhythmogenic right ventricular dysplasia (ARVD)...
  6. The molecular mechanisms underlying arrhythmogenic right ventricular dysplasia/ca
    Farah Sheikh; Fiscal Year: 2009
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic form of cardiomyopathy, which is typically characterized by right but also recently left ventricular dysfunction, fibrotic/fatty replacement of the ventricle ..
  7. A Clinical & Molecular Analysis of the Brugada Syndrome
    Barry London; Fiscal Year: 2005
    ..we identified two other large families and several small families with Brugada syndrome or arrhythmogenic right ventricular dysplasia (ARVD)...
  8. A Clinical & Molecular Analysis of the Brugada Syndrome
    Barry London; Fiscal Year: 2004
    ..we identified two other large families and several small families with Brugada syndrome or arrhythmogenic right ventricular dysplasia (ARVD)...
  9. The molecular mechanisms underlying arrhythmogenic right ventricular dysplasia/ca
    Farah Sheikh; Fiscal Year: 2009
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic form of cardiomyopathy, which is typically characterized by right but also recently left ventricular dysfunction, fibrotic/fatty replacement of the ventricle ..
  10. The molecular mechanisms underlying arrhythmogenic right ventricular dysplasia/ca
    Farah Sheikh; Fiscal Year: 2010
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic form of cardiomyopathy, which is typically characterized by right but also recently left ventricular dysfunction, fibrotic/fatty replacement of the ventricle ..
  11. The molecular mechanisms underlying arrhythmogenic right ventricular dysplasia/ca
    Farah Sheikh; Fiscal Year: 2010
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic form of cardiomyopathy, which is typically characterized by right but also recently left ventricular dysfunction, fibrotic/fatty replacement of the ventricle ..
  12. Role of Desmosomal Adhesion in Carcinogenesis
    MY MAHONEY; Fiscal Year: 2009
    ..In human, genetic mutations in the DSG2 gene results in inherited arrhythmogenic right ventricular dysplasia/cardiomyopathy...
  13. Role of Desmosomal Adhesion in Carcinogenesis
    MY GEORGIA MAHONEY; Fiscal Year: 2011
    ..In human, genetic mutations in the DSG2 gene results in inherited arrhythmogenic right ventricular dysplasia/cardiomyopathy...
  14. Genetic basis of arrhythmogenic right ventricular dysplasia (ARVD)
    Robert Roberts; Fiscal Year: 2000
    ..b>Arrhythmogenic right ventricular dysplasia (ARVD), is a familial cardiomyopathy of unknown etiology characterized by a gradual loss of ..
  15. Genetic Investigation of Arrhythmogenic Right Ventricular Dysplasia
    Daniel Judge; Fiscal Year: 2007
    ..of novel approaches to understand the molecular genetic basis for a rare cardiac disease, Arrhythmogenic Right Ventricular Dysplasia (ARVD)...
  16. Multidisciplinary Study of Right Ventricular Dysplasia
    Wojciech Zareba; Fiscal Year: 2003
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  17. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2003
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  18. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2004
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  19. Multidisciplinary Study of Right Ventricular Dysplasia
    Wojciech Zareba; Fiscal Year: 2004
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  20. Multidisciplinary Study of Right Ventricular Dysplasia
    Frank Marcus; Fiscal Year: 2003
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  21. Multidisciplinary Study of Right Ventricular Dysplasia
    Wojciech Zareba; Fiscal Year: 2001
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  22. Multidisciplinary Study of Right Ventricular Dysplasia
    Frank Marcus; Fiscal Year: 2002
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  23. Multidisciplinary Study of Right Ventricular Dysplasia
    Frank Marcus; Fiscal Year: 2001
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  24. Cell-Cell and Cell-ECM Adhesion in Cardiac Function and Disease
    Ju Chen; Fiscal Year: 2009
    ..PINCH) adhesion complexes play important roles in the etiology of arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/C) and cardiac function and/or repair...
  25. MAKAP FUNCTIONS OF A PKA ANCHORING PROTEIN
    MICHAEL KAPILOFF; Fiscal Year: 2004
    ..that the human mAKAP gene is mutated in a cardiac disorder to which it shares genetic linkage, arrhythmogenic right ventricular dysplasia. In collaboration with Dr...
  26. CLONING OF A POTENTIAL REGULATOR OF THE DHAND FACTOR
    Mark Russell; Fiscal Year: 2001
    ..an inherited developmental abnormality of ventricular structure and electrophysiologic function, arrhythmogenic right ventricular dysplasia (ARVD)...
  27. MAKAP FUNCTIONS OF A PKA ANCHORING PROTEIN
    MICHAEL KAPILOFF; Fiscal Year: 2001
    ..that the human mAKAP gene is mutated in a cardiac disorder to which it shares genetic linkage, arrhythmogenic right ventricular dysplasia. In collaboration with Dr...
  28. MAKAP FUNCTIONS OF A PKA ANCHORING PROTEIN
    MICHAEL KAPILOFF; Fiscal Year: 2000
    ..that the human mAKAP gene is mutated in a cardiac disorder to which it shares genetic linkage, arrhythmogenic right ventricular dysplasia. In collaboration with Dr...
  29. MAKAP FUNCTIONS OF A PKA ANCHORING PROTEIN
    MICHAEL KAPILOFF; Fiscal Year: 2003
    ..that the human mAKAP gene is mutated in a cardiac disorder to which it shares genetic linkage, arrhythmogenic right ventricular dysplasia. In collaboration with Dr...
  30. MAKAP FUNCTIONS OF A PKA ANCHORING PROTEIN
    MICHAEL KAPILOFF; Fiscal Year: 2002
    ..that the human mAKAP gene is mutated in a cardiac disorder to which it shares genetic linkage, arrhythmogenic right ventricular dysplasia. In collaboration with Dr...
  31. CLONING OF A POTENTIAL REGULATOR OF THE DHAND FACTOR
    Mark Russell; Fiscal Year: 2002
    ..an inherited developmental abnormality of ventricular structure and electrophysiologic function, arrhythmogenic right ventricular dysplasia (ARVD)...
  32. Genetic Investigation of Arrhythmogenic Right Ventricular Dysplasia
    Daniel Judge; Fiscal Year: 2008
    ..of novel approaches to understand the molecular genetic basis for a rare cardiac disease, Arrhythmogenic Right Ventricular Dysplasia (ARVD)...
  33. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2005
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  34. Pediatric Cardiomyopathy Specimen Repository
    Jeffrey Towbin; Fiscal Year: 2007
    ....
  35. Pediatric Cardiomyopathy Specimen Repository
    Jeffrey Towbin; Fiscal Year: 2008
    ....
  36. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2007
    ..Our long-range goal is to generate information that will contribute meaningfully to our understanding of arrhythmic death in infants and young children. [unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..
  37. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2006
    ..Our long-range goal is to generate information that will contribute meaningfully to our understanding of arrhythmic death in infants and young children. [unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..
  38. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 1993
    ..Our long-range goal is to narrow the gap that currently exists in this area and to generate information that will contribute to a more definitive and less empiric approach in the medical management of cardiac arrhythmias...
  39. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2000
    ..The long range goal is to generate information that will contribute to a more definitive and less empiric approach in the medical management of cardiac arrhythmias and sudden cardiac death. ..
  40. Development of Novel Approaches for the Pharmacologic Treatment of Atrial Fibrill
    Charles Antzelevitch; Fiscal Year: 2011
    ..Successful completion of the studies proposed in this competing renewal will significantly advance this goal and lead to the development of innovative and effective pharmacologic treatments for AF. ..
  41. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2008
    ..Our long-range goal is to generate information that will contribute meaningfully to our understanding of arrhythmic death in infants and young children. [unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..
  42. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2005
    ..Our long-range goal is to generate information that will contribute meaningfully to our understanding of arrhythmic death in infants and young children. ..
  43. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2001
    ..Our long-range goal is to generate information that will contribute to our understanding of the causes for arrhythmic death in infants and young children. ..
  44. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2002
    ..Our long-range goal is to generate information that will contribute to our understanding of the causes for arrhythmic death in infants and young children. ..
  45. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2003
    ..Our long-range goal is to generate information that will contribute to our understanding of the causes for arrhythmic death in infants and young children. ..
  46. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 2004
    ..Our long-range goal is to generate information that will contribute to our understanding of the causes for arrhythmic death in infants and young children. ..
  47. ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIAS
    Charles Antzelevitch; Fiscal Year: 1999
    ..The long range goal is to generate information that will contribute to a more definitive and less empiric approach in the medical management of cardiac arrhythmias and sudden cardiac death. ..
  48. Familial Dilated Cardiomyopathy: Detection/Gene Mapping
    Ray E Hershberger; Fiscal Year: 2010
    ..We aim to identify more of the disease genes, which will lead to greater understanding of the causes of human heart failure. ..
  49. Familial Dilated Cardiomyopathy: Detection/Gene Mapping
    Ray Hershberger; Fiscal Year: 2009
    ..We aim to identify more of the disease genes, which will lead to greater understanding of the causes of human heart failure. ..
  50. Update and modification of Task Force Criteria for ARVD/C
    Frank Marcus; Fiscal Year: 2007
    b>Arrhythmogenic Right Ventricular Dysplasia /Cardiomyopathy (ARVD/C) is a disease characterized by a presence of ventricular arrhythmias originating from the right ventricle including ventricular premature beats, ventricular tachycardia or ..
  51. Familial Dilated Cardiomyopathy: Detection/Gene Mapping
    Ray Hershberger; Fiscal Year: 2002
    ..We further propose to (2) map the genes responsible for FDC in several FDC pedigrees, of which linkage and additional gene mapping studies are in progress. ..
  52. Familial Dilated Cardiomyopathy: Detection/Gene Mapping
    Ray Hershberger; Fiscal Year: 2005
    ..We further propose to (2) map the genes responsible for FDC in several FDC pedigrees, of which linkage and additional gene mapping studies are in progress. ..
  53. FAMILIAL DILATED CARDIOMYOPATHY--DETECTION/GENE MAPPING
    Ray Hershberger; Fiscal Year: 2000
    ..Preliminary data suggest that OHSU FDC-1 links to neither of the recently reported cardiomyopathy chromosomal locations, suggesting that an additional locus for FDC is present. ..
  54. FAMILIAL DILATED CARDIOMYOPATHY--DETECTION/GENE MAPPING
    Ray Hershberger; Fiscal Year: 1999
    ..Preliminary data suggest that OHSU FDC-1 links to neither of the recently reported cardiomyopathy chromosomal locations, suggesting that an additional locus for FDC is present. ..
  55. Multidisciplinary Study of Right Ventricular Dysplasia
    Frank Marcus; Fiscal Year: 2005
    ..multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ..
  56. The Cytoskeleton in HAART-Induced Cardiomyopathy
    David Nelson; Fiscal Year: 2006
    ..Specific Aim 2: Characterization of the cytoskeleton in HAART-treated transgenic mice. Specific Aim 3: Role of extrinsic stimuli in the development of HAART-induced cardiomyopathy. ..
  57. REGULATION OF MYOCARDIAL GAP JUNCTIONS
    Jeffrey Saffitz; Fiscal Year: 2005
    ..abstract_text> ..
  58. MOLECULAR BASIS OF HEART FAILURE
    Andrew Marks; Fiscal Year: 2009
    ..The proposed studies are significant because they will provide novel insights concerning the mechanisms of HF progression. ..
  59. Pathogenesis and Therapy of Marfan Vascular Disease
    Daniel Judge; Fiscal Year: 2007
    ..Dr. Judge's training will be based in the School of Public Health at Johns Hopkins, and he will be advised by a committee of experts to create a fruitful environment for the development of an independent clinical scientist. ..
  60. MOLECULAR BASIS OF HEART FAILURE
    Andrew Marks; Fiscal Year: 2003
    ..We propose to test the hypothesis that defective regulation of RyR1 due to PKA hyperphosphorylation and FKBP12 depletion contributes to impaired skeletal muscle function in heart failure. ..
  61. Detection of Lipid Infiltration in the Heart with MRI
    MARIA ALTBACH; Fiscal Year: 2009
    ..The main purpose of the project is to improve the diagnosis of a condition known as Arrhythmogenic Right Ventricular Dysplasia (ARVD) a disease characterized by fibrofatty infiltration in the right ventricle that leads to ..
  62. Novel radial MRI methods for abdominal imaging
    MARIA ALTBACH; Fiscal Year: 2005
    ..0 T. The overall goal is to develop the acquisition and post-processing methods and then to show that these lead to improve detection and characterization of neoplasms. ..
  63. Genetic Predictors of QT Response During Exercise
    Prince Kannankeril; Fiscal Year: 2007
    ..This research has the potential to permit identification of individuals at risk for sudden cardiac death and therefore has significant relevance to public health. (End of Abstract) [unreadable] [unreadable]..
  64. Familial Dilated Cardiomyopathy: Detection/Gene Mapping
    Ray Hershberger; Fiscal Year: 2003
    ..We further propose to (2) map the genes responsible for FDC in several FDC pedigrees, of which linkage and additional gene mapping studies are in progress. ..
  65. Detection of Lipid Infiltration in the Heart with MRI
    MARIA ALTBACH; Fiscal Year: 2007
    ..The main purpose of the project is to improve the diagnosis of a condition known as Arrhythmogenic Right Ventricular Dysplasia (ARVD) a disease characterized by fibrofatty infiltration in the right ventricle that leads to ..
  66. Free-Breathing 3D Cardiac MR Imaging
    Bruno Madore; Fiscal Year: 2005
    ..This approach has the potential of being especially useful in patients for whom breath-holding is not an option, e.g. when imaging very sick, mentally impaired or infant patients. ..
  67. Coronary Atherosclerosis Evaluation by Arterial Wall MRI
    David Bluemke; Fiscal Year: 2006
    ..The ability to directly define the extent of coronary atherosclerosis at an early stage should lead to an improved understanding of coronary risk factors and their impact on atherosclerosis development. [unreadable] [unreadable]..
  68. Familial Dilated Cardiomyopathy: Detection/Gene Mapping
    Ray Hershberger; Fiscal Year: 2006
    ..We further propose to (2) map the genes responsible for FDC in several FDC pedigrees, of which linkage and additional gene mapping studies are in progress. ..
  69. Detection of Lipid Infiltration in the Heart with MRI
    MARIA ALTBACH; Fiscal Year: 2008
    ..The main purpose of the project is to improve the diagnosis of a condition known as Arrhythmogenic Right Ventricular Dysplasia (ARVD) a disease characterized by fibrofatty infiltration in the right ventricle that leads to ..
  70. Genetic Predictors of QT Response During Exercise
    Prince Kannankeril; Fiscal Year: 2008
    ..This research has the potential to permit identification of individuals at risk for sudden cardiac death and therefore has significant relevance to public health. ..
  71. Coronary Atherosclerosis Evaluation by Arterial Wall MRI
    David Bluemke; Fiscal Year: 2007
    ..The ability to directly define the extent of coronary atherosclerosis at an early stage should lead to an improved understanding of coronary risk factors and their impact on atherosclerosis development. [unreadable] [unreadable]..
  72. CAUSE OF CARDIOVASCULAR COMPLICATIONS IN HIV INFECTION
    Jeffrey Towbin; Fiscal Year: 2002
    ....
  73. IDENTIFICATION OF THE GENES CAUSING BRUGADA SYNDROME
    Jeffrey Towbin; Fiscal Year: 2002
    ..If pathogenic mutations are found, he proposes to collaborate in expressing them in frog oocytes to study the effect of the mutations on ion fluxes and action potentials. ..