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 Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs
    Changsung Kim
    Del E Webb Neuroscience, Aging and Stem Cell Research Center, Sanford Burnham Medical Research Institute, La Jolla, California 92037, USA
    Nature 494:105-10. 2013
  2. ncbi 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
  3. ncbi 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. ncbi 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
  9. 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
  10. ncbi Arrhythmogenic right ventricular cardiomyopathy
    Cristina Basso
    University of Padua Medical School, Padua, Italy
    Lancet 373:1289-300. 2009

Detail Information

Publications257 found, 100 shown here

  1. pmc Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs
    Changsung Kim
    Del E Webb Neuroscience, Aging and Stem Cell Research Center, Sanford Burnham Medical Research Institute, La Jolla, California 92037, USA
    Nature 494:105-10. 2013
    ..b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease characterized by pathological fatty ..
  2. ncbi 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
    ....
  3. ncbi 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...
  4. 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
    ....
  5. 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
    ....
  6. 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...
  7. 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...
  8. ncbi 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...
  9. 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...
  10. ncbi 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...
  11. 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...
  12. 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...
  13. ncbi 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
    ....
  14. ncbi Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy
    Anna Gaertner
    Herz und Diabeteszentrum NRW, Universitätsklinikum der Ruhr Universität Bochum, Klinik für Thorax und Kardiovaskularchirurgie, Erich und Hanna Klessmann Institut für Kardiovaskuläre Forschung und Entwicklung, Bad Oeynhausen, Germany
    Physiol Genomics 44:99-109. 2012
    ..Our study is the first analysis of specific ARVC-related RV and LV gene expression patterns in terminal failing human hearts...
  15. ncbi 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...
  16. ncbi 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...
  17. 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)...
  18. ncbi 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...
  19. 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...
  20. 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, ..
  21. 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...
  22. 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...
  23. 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)...
  24. ncbi 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...
  25. 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
    ....
  26. 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...
  27. ncbi 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...
  28. 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...
  29. 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
    ....
  30. 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...
  31. ncbi 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...
  32. ncbi 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
    ....
  33. 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...
  34. ncbi 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  40. ncbi Echocardiographic tissue deformation imaging quantifies abnormal regional right ventricular function in arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Arco J Teske
    Department of Cardiology, University Medical Center, Utrecht, The Netherlands A J T, M G C, B W D B, P A D, R N H, M J C and Interuniversity Cardiology Institute of The Netherlands, Utrecht, The Netherlands
    J Am Soc Echocardiogr 22:920-7. 2009
    ..accuracy of new quantitative echocardiographic strain and strain-rate imaging parameters to identify abnormal regional right ventricular (RV) deformation associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
  41. ncbi Prospective study of cardiac sarcoid mimicking arrhythmogenic right ventricular dysplasia
    Smit C Vasaiwala
    Cardiovascular Institute, Loyola University Medical Center, Maywood, Illinois 60153, USA
    J Cardiovasc Electrophysiol 20:473-6. 2009
    Case studies indicate that cardiac sarcoid may mimic the clinical presentation of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); however, the incidence and clinical predictors to diagnose cardiac sarcoid in patients ..
  42. ncbi Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele
    Katja Gehmlich
    Institute of Cardiovascular Science and The Heart Hospital, University College London, United Kingdom
    Cardiovasc Pathol 21:275-82. 2012
    ..It is often associated with life-threatening arrhythmias. Some affected individuals develop progressive heart failure and may require cardiac transplantation...
  43. 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...
  44. 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
    ....
  45. ncbi Utility of myocardial fibrosis and fatty infiltration detected by cardiac magnetic resonance imaging in the diagnosis of arrhythmogenic right ventricular dysplasia--a single centre experience
    Heinz B Pfluger
    Alfred Hospital Heart Centre and Baker Heart Research Institute, Melbourne, Australia
    Heart Lung Circ 17:478-83. 2008
    Cardiac magnetic resonance imaging (CMR) has evolved as a major diagnostic tool to evaluate arrhythmogenic right ventricular dysplasia (ARVD)...
  46. 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
    ....
  47. ncbi The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Neil E Bowles
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Am Coll Cardiol 39:892-5. 2002
    We sought to investigate the role of cardiotropic viruses, including adenovirus, cytomegalovirus (CMV), enterovirus and parvovirus, in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
  48. pmc A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions
    Katja Gehmlich
    Institute of Cardiovascular Science, University College London, and The Heart Hospital, London, United Kingdom
    Heart Rhythm 8:711-8. 2011
    ..Cellular adhesion mediated by cardiac desmosomes is a prerequisite for proper electric propagation mediated by gap junctions in the myocardium. However, the molecular principles underlying this interdependence are not fully understood...
  49. ncbi Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia
    D Li
    Department of Medicine Cardiology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Genomics 74:396-401. 2001
    ..markers D10S547 and D10S223, a region to which we have recently localized a gene responsible for arrhythmogenic right ventricular dysplasia (ARVD)...
  50. 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 ..
  51. ncbi Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy
    Annukka M Lahtinen
    Research Program for Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Heart Rhythm 8:1214-21. 2011
    ..Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive myocardial disorder caused by mutations of desmosomal cell adhesion proteins. The prevalence of these variants in the general population is unknown...
  52. ncbi The value of magnetic resonance imaging for the diagnosis of arrhythmogenic right ventricular cardiomyopathy
    Ruzica Maksimovic
    Department of Cardiology, Kerckhoff Heart Center, Bad Nauheim, Germany
    Eur Radiol 16:560-8. 2006
    ..Combinations between major and minor criteria contributed to a statistically valid model for ARVC diagnosis...
  53. ncbi Impact of the revision of arrhythmogenic right ventricular cardiomyopathy/dysplasia task force criteria on its prevalence by CMR criteria
    Emmanuelle Vermes
    Stephenson Cardiovascular MR Centre at Libin Cardiovascular Institute of Alberta, Department of Cardiac Sciences, University of Calgary, Calgary, Alberta, Canada
    JACC Cardiovasc Imaging 4:282-7. 2011
    ..The purpose of our study was to assess the impact of revised versus original criteria on the prevalence of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) criteria in cardiac magnetic resonance (CMR) studies...
  54. 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...
  55. 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...
  56. ncbi 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...
  57. 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)...
  58. 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 ..
  59. 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
    ....
  60. 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...
  61. 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).
  62. ncbi 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...
  63. ncbi 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. ncbi Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
    Darshan Dalal
    Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Circulation 113:1641-9. 2006
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by right ventricular dysfunction and ventricular arrhythmias...
  65. ncbi Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    G McKoy
    Department of Cardiological Sciences, St George s Hospital Medical School, London, UK
    Lancet 355:2119-24. 2000
    ..This protein is a key component of desmosomes and adherens junctions, and is important for the tight adhesion of many cell types, including those in the heart and skin...
  66. 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...
  67. ncbi Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
    N Tiso
    Department of Biology, University of Padova, 35121 Padova, Italy
    Hum Mol Genet 10:189-94. 2001
    b>Arrhythmogenic right ventricular dysplasia type 2 (ARVD2, OMIM 600996) is an autosomal dominant cardiomyopathy, characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death...
  68. 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...
  69. 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...
  70. ncbi 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...
  71. ncbi Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Darshan Dalal
    Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Am Coll Cardiol 48:1416-24. 2006
    ..study was to characterize the penetrance of PKP2 mutations among family members of people with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and to examine clinical features and predictors of disease among PKP2 ..
  72. ncbi Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia
    Domenico Corrado
    Department of Cardiac, Thoracic, and Vascular Sciences, University of Padua Medical School, Via Giustiniani 2, Padua, Italy
    Circulation 122:1144-52. 2010
    ..The role of implantable cardioverter-defibrillator (ICD) in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation (VF) or sustained ventricular tachycardia is an unsolved issue...
  73. 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)...
  74. 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...
  75. 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...
  76. ncbi 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...
  77. 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...
  78. 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...
  79. ncbi PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA)
    Mingchang Zhang
    Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai, China
    Circ J 76:189-94. 2012
    ..Fatal arrhythmias resulting in sudden death also occur in the absence of morphologic cardiac abnormalities at autopsy, and have been linked to ion channel mutations in a subset of cases, but so far not to PKP2...
  80. ncbi 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.
  81. 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.
  82. 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
    ....
  83. ncbi Evolving role of multidetector computed tomography in evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Chandra Bomma
    Division of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Am J Cardiol 100:99-105. 2007
    ..Limitations include implantable cardioverter-defibrillators and motion artifacts, along with well-known radiation and contrast-induced reaction...
  84. ncbi Combined endocardial and epicardial catheter ablation in arrhythmogenic right ventricular dysplasia incorporating scar dechanneling technique
    Antonio Berruezo
    Arrhythmia Section, Cardiology Department, Thorax Institute, Hospital Clinic and IDIBAPS, Barcelona, Catalonia, Spain
    Circ Arrhythm Electrophysiol 5:111-21. 2012
    Ventricular tachycardia (VT) ablation in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) has a low success rate. A more extensive epicardial (Epi) arrhythmogenic substrate could explain the low efficacy...
  85. ncbi Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia
    Harikrishna Tandri
    Department of Cardiology, The Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
    J Cardiovasc Electrophysiol 13:1180. 2002
  86. ncbi Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia: sensitivity, specificity, and observer variability of fat detection versus functional analysis of the right ventricle
    Harikrishna Tandri
    Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    J Am Coll Cardiol 48:2277-84. 2006
    ..interobserver agreement for interpretation of magnetic resonance imaging (MRI) examinations of arrhythmogenic right ventricular dysplasia (ARVD) and to determine sensitivity and specificity of fat detection versus functional ..
  87. ncbi Epidemiology of fat replacement of the right ventricular myocardium determined by multislice computed tomography using a logistic regression model
    Megumi Imada
    Int J Cardiol 119:410-3. 2007
    ..We frequently observe fat replacement (FR) of the anterior wall of the right ventricular myocardium (RVM), but its epidemiological significance is not clear...
  88. pmc Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2
    Mark M Awad
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Hum Mutat 27:1157. 2006
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic disorder resulting in fibro-fatty replacement of right ventricular myocytes and consequent ventricular arrhythmias...
  89. doi Cardiac sarcoidosis imitating arrhythmogenic right ventricular dysplasia
    Kibar Yared
    Cardiac Ultrasound Laboratory, Massachusetts General Hospital, Boston, MA 02114 2696, USA
    Circulation 118:e113-5. 2008
  90. pmc Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy
    Raffaella Lombardi
    Center for Cardiovascular Genetics, Institute of Molecular Medicine and Department of Medicine, University of Texas Health Sciences Center at Houston, Houston, Texas, USA
    Circ Res 109:1342-53. 2011
    ..We have implicated signaling properties of junction protein plakoglobin (PG) in the pathogenesis of ARVC...
  91. ncbi Ventricular tachycardia in arrhythmogenic right ventricular dysplasia/cardiomyopathy: clinical presentation, risk stratification and results of long-term follow-up
    Thomas Pezawas
    Department of Cardiology, Medical University of Vienna, Waehringer Guertel 18 20, A 1090 Vienna, Austria
    Int J Cardiol 107:360-8. 2006
    Not all patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) are at risk for sudden cardiac death. The aim of the study was to evaluate the risk stratification in patients with ARVD/C.
  92. 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...
  93. ncbi 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...
  94. ncbi 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...
  95. ncbi A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
    Fatima Djouadi
    Universite Paris Descartes, CNRS UPR9078, Faculte Necker, Assistance Publique Hopitaux de Paris, Paris, France
    Cardiovasc Res 84:83-90. 2009
    ..We hypothesized that changes in peroxisome proliferator-activated receptor (PPAR) signalling contributed to myocardium fatty accumulation and contractile dysfunction in ARVC...
  96. pmc Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasia
    Aditya Jain
    Russell H, Morgan Department of Radiology and Radiological Science, Johns Hopkins University, School of Medicine, Baltimore, MD, USA
    J Cardiovasc Magn Reson 10:32. 2008
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic cardiomyopathy characterized clinically by ventricular arrhythmias and progressive right ventricular (RV) dysfunction...
  97. 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...
  98. ncbi High prevalence of myocarditis mimicking arrhythmogenic right ventricular cardiomyopathy differential diagnosis by electroanatomic mapping-guided endomyocardial biopsy
    Maurizio Pieroni
    Cardiology Department, Catholic University, Largo A Gemelli 8, Rome, Italy
    J Am Coll Cardiol 53:681-9. 2009
    ....
  99. 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...
  100. ncbi Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol
    Frank Marcus
    Sarver Heart Center, University of Arizona College of Medicine, Tucson, AZ, USA
    Circulation 107:2975-8. 2003
  101. ncbi Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia
    Harikrishna Tandri
    Division of Cardiology, The Johns Hopkins University, Baltimore, Maryland, USA
    J Cardiovasc Electrophysiol 14:476-82. 2003
    ..resonance imaging (MRI) findings in patients meeting Task Force criteria for the diagnosis of arrhythmogenic right ventricular dysplasia (ARVD) have not been systematically described...

Research Grants22

  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. Role of Desmosomal Adhesion in Carcinogenesis
    MY GEORGIA MAHONEY; Fiscal Year: 2013
    ..In human, genetic mutations in the DSG2 gene results in inherited arrhythmogenic right ventricular dysplasia/cardiomyopathy...
  3. The molecular mechanisms underlying arrhythmogenic right ventricular dysplasia/ca
    Farah Sheikh; Fiscal Year: 2013
    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 ..
  4. Late Gadolinium Enhancement MRI for Patients with Implantable Cardiac Devices
    Peng Hu; Fiscal Year: 2013
    ..and differentiating various forms of non-ischemic cardiomyopathy, including myocarditis, arrhythmogenic right ventricular dysplasia, amyloidosis, and sarcoidosis...
  5. Maturation of Normal and Disease-specific Human Stem Cell-derived Cardiomyocytes
    Huei Sheng Vincent Chen; Fiscal Year: 2013
    ..the first cardiac disease-specific iPSC line that produced CMs with pathological signatures of arrhythmogenic right ventricular dysplasia (ARVD)...
  6. 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)...
  7. 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...
  8. 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 ..
  9. 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 ..
  10. 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 ..
  11. CX43 IN A GENETIC MODEL OF ALTERED MYOCARDIAL CONDUCTION
    Jeffrey Saffitz; Fiscal Year: 2004
    ..The results of the proposed research will define mechanisms by which reduced coupling promotes ventricular tachyarrhythmias in mouse models of acute and chronic ischemic heart disease in patients. ..
  12. REGULATION OF MYOCARDIAL GAP JUNCTIONS
    Jeffrey Saffitz; Fiscal Year: 2006
    ..abstract_text> ..
  13. CARDIAC AND SKELETAL MUSCLE CALCIUM RELEASE CHANNELS
    Andrew Marks; Fiscal Year: 2009
    ..Thus, the proposed studies are highly relevant to human diseases including heart failure and cardiac arrhythmias. ..
  14. Regulation of cardiac ion channel function via allosteric modulators
    Andrew Marks; Fiscal Year: 2007
    ..The studies are significant because they may lead to a novel therapeutic approach based on allosteric modulation of RyR that can result in improved therapy for human cardiovascular diseases. ..
  15. 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)...
  16. 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. ..
  17. 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. ..
  18. 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. ..
  19. 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. ..
  20. 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]..
  21. 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. ..
  22. CAUSE OF CARDIOVASCULAR COMPLICATIONS IN HIV INFECTION
    Jeffrey Towbin; Fiscal Year: 2002
    ....