Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers

American Journal of Cardiology

Volumn 112, Issue 8, 2013, Pages 1197-1206

  Groeneweg, Judith A ^a,b   Van Der Zwaag, Paul A ^c   Olde Nordkamp, Louise R A ^d   Bikker, Hennie ^d   Jongbloed, Jan D H ^c   Jongbloed, Roselie ^e   Wiesfeld, Ans C P ^c   Cox, Moniek G P J ^a,b,f   Van Der Heijden, Jeroen F ^a   Atsma, Douwe E ^f   De Boer, Karin ^g   Doevendans, Pieter A ^a   Vink, Aryan ^a   Van Veen, Toon A B ^a   Dooijes, Dennis ^a   Van Den Berg, Maarten P ^c   Wilde, Arthur A M ^d   Van Tintelen, J Peter ^b,c   Hauer, Richard N ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PHOSPHOLAMBAN;

ADULT; ANGIOGRAPHY; ARTICLE; AUTOPSY; DESMOSOME; DISEASE CLASSIFICATION; EXERCISE TEST; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HEART LEFT BUNDLE BRANCH BLOCK; HEART LEFT VENTRICLE EJECTION FRACTION; HEART MUSCLE BIOPSY; HEART RIGHT BUNDLE BRANCH BLOCK; HEART RIGHT VENTRICLE DYSPLASIA; HEART RIGHT VENTRICLE EJECTION FRACTION; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HOLTER MONITORING; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVISED 2010 TASK FORCE CRITERIA; STOP CODON; SUDDEN CARDIAC DEATH; T WAVE; T WAVE INVERSION;

ADVISORY COMMITTEES; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CALCIUM-BINDING PROTEINS; DESMOSOMES; DNA; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEART VENTRICLES; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 84884902650     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2013.06.017     Document Type: Article

References (31)

1. F.I. Marcus, G.H. Fontaine, G. Guiraudon, R. Frank, J.L. Laurenceau, C. Malergue, and Y. Grosgogeat Right ventricular dysplasia: a report of 24 adult cases Circulation 65 1982 384 398
2. C. Basso, G. Thiene, D. Corrado, A. Angelini, A. Nava, and M. Valente Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 94 1996 983 991
3. D. Corrado, C. Basso, G. Thiene, W.J. McKenna, M.J. Davies, F. Fontaliran, A. Nava, F. Silvestri, C. Blomstrom-Lundqvist, E.K. Wlodarska, G. Fontaine, and F. Camerini Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study J Am Coll Cardiol 30 1997 1512 1520
4. S. Sen-Chowdhry, P. Syrris, S.K. Prasad, S.E. Hughes, R. Merrifield, D. Ward, D.J. Pennell, and W.J. McKenna Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity J Am Coll Cardiol 52 2008 2175 2187
5. A. Asimaki, H. Tandri, H. Huang, M.K. Halushka, S. Gautam, C. Basso, G. Thiene, A. Tsatsopoulou, N. Protonotarios, W.J. McKenna, H. Calkins, and J.E. Saffitz A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy N Engl J Med 360 2009 1075 1084
6. F.I. Marcus, W.J. McKenna, D. Sherrill, C. Basso, B. Bauce, D.A. Bluemke, H. Calkins, D. Corrado, M.G. Cox, J.P. Daubert, G. Fontaine, K. Gear, R. Hauer, A. Nava, M.H. Picard, N. Protonotarios, J.E. Saffitz, D.M. Sanborn, J.S. Steinberg, H. Tandri, G. Thiene, J.A. Towbin, A. Tsatsopoulou, T. Wichter, and W. Zareba Diagnosis of arrhythmogenic right ventricular cardiomyopathy/ dysplasia: proposed modification of the task force criteria Circulation 121 2010 1533 1541
7. M.G. Cox, J.J. van der Smagt, M. Noorman, A.C. Wiesfeld, P.G. Volders, I.M. van Langen, D.E. Atsma, D. Dooijes, A.C. Houweling, P. Loh, L. Jordaens, Y. Arens, M.J. Cramer, P.A. Doevendans, J.P. van Tintelen, A.A. Wilde, and R.N. Hauer Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria Circ Arrhythm Electrophysiol 3 2010 126 133
8. N. Protonotarios, A. Anastasakis, L. Antoniades, G. Chlouverakis, P. Syrris, C. Basso, A. Asimaki, A. Theopistou, C. Stefanadis, G. Thiene, W.J. McKenna, and A. Tsatsopoulou Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations Eur Heart J 32 2011 1097 1104
9. G. Quarta, A. Muir, A. Pantazis, P. Syrris, K. Gehmlich, P. Garcia-Pavia, D. Ward, S. Sen-Chowdhry, P.M. Elliott, and W.J. McKenna Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria Circulation 123 2011 2701 2709
10. M.G. Cox, P.A. van der Zwaag, C. van der Werf, J.J. van der Smagt, M. Noorman, Z.A. Bhuiyan, A.C. Wiesfeld, P.G. Volders, I.M. van Langen, D.E. Atsma, D. Dooijes, A. van den Wijngaard, A.C. Houweling, J.D. Jongbloed, L. Jordaens, M.J. Cramer, P.A. Doevendans, J.M. de Bakker, A.A. Wilde, J.P. van Tintelen, and R.N. Hauer 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 Circulation 123 2011 2690 2700
11. G. Beffagna, G. Occhi, A. Nava, L. Vitiello, A. Ditadi, C. Basso, B. Bauce, G. Carraro, G. Thiene, J.A. Towbin, G.A. Danieli, and A. Rampazzo Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1 Cardiovasc Res 65 2005 366 373
12. N.D. Merner, K.A. Hodgkinson, A.F. Haywood, S. Connors, V.M. French, J.D. Drenckhahn, C. Kupprion, K. Ramadanova, L. Thierfelder, W. McKenna, B. Gallagher, L. Morris-Larkin, A.S. Bassett, P.S. Parfrey, and T.L. Young Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene Am J Hum Genet 82 2008 809 821
13. J.P. van Tintelen, I.C. Van Gelder, A. Asimaki, A.J. Suurmeijer, A.C. Wiesfeld, J.D. Jongbloed, A. van den Wijngaard, J.B. Kuks, K.Y. van Spaendonck-Zwarts, N. Notermans, L. Boven, F. van den Heuvel, H.E. Veenstra-Knol, J.E. Saffitz, R.M. Hofstra, and M.P. van den Berg Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene Heart Rhythm 6 2009 1574 1583
14. M. Taylor, S. Graw, G. Sinagra, C. Barnes, D. Slavov, F. Brun, B. Pinamonti, E.E. Salcedo, W. Sauer, S. Pyxaras, B. Anderson, B. Simon, J. Bogomolovas, S. Labeit, H. Granzier, and L. Mestroni Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes Circulation 124 2011 876 885
15. G. Quarta, P. Syrris, M. Ashworth, S. Jenkins, K. Zuborne Alapi, J. Morgan, A. Muir, A. Pantazis, W.J. McKenna, and P.M. Elliott Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy Eur Heart J 33 2012 1128 1136
16. P.A. van der Zwaag, I.A. van Rijsingen, A. Asimaki, J.D. Jongbloed, D.J. van Veldhuisen, A.C. Wiesfeld, M.G. Cox, L.T. van Lochem, R.A. de Boer, R.M. Hofstra, I. Christiaans, K.Y. van Spaendonck-Zwarts, R.H. Lekanne Dit Deprez, D.P. Judge, H. Calkins, A.J. Suurmeijer, R.N. Hauer, J.E. Saffitz, A.A. Wilde, M.P. van den Berg, and J.P. van Tintelen Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy Eur J Heart Fail 14 2012 1199 1207
17. M.G. Posch, A. Perrot, C. Geier, L.H. Boldt, G. Schmidt, H.B. Lehmkuhl, R. Hetzer, R. Dietz, M. Gutberlet, W. Haverkamp, and C. Ozcelik Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes Heart Rhythm 6 2009 480 486
18. K. Haghighi, F. Kolokathis, A.O. Gramolini, J.R. Waggoner, L. Pater, R.A. Lynch, G.C. Fan, D. Tsiapras, R.R. Parekh, G.W. Dorn II, D.H. MacLennan, D.T. Kremastinos, and E.G. Kranias A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy Proc Natl Acad Sci U S A 103 2006 1388 1393
19. M.M. DeWitt, H.M. MacLeod, B. Soliven, and E.M. McNally Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy J Am Coll Cardiol 48 2006 1396 1398
20. W.J. McKenna, G. Thiene, A. Nava, F. Fontaliran, C. Blomstrom-Lundqvist, G. Fontaine, F. Camerini Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology Diagnosis of arrhythmogenic right ventricular dysplasia/ cardiomyopathy Br Heart J 71 1994 215 218
21. Z.A. Bhuiyan, J.D. Jongbloed, J. van der Smagt, P.M. Lombardi, A.C. Wiesfeld, M. Nelen, M. Schouten, R. Jongbloed, M.G. Cox, M. van Wolferen, L.M. Rodriguez, I.C. van Gelder, H. Bikker, A.J. Suurmeijer, M.P. van den Berg, M.M. Mannens, R.N. Hauer, A.A. Wilde, and J.P. van Tintelen Desmoglein-2 and desmocollin-2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy patients: results from a multicenter study Circ Cardiovasc Genet 2 2009 418 427
22. B. Gerull, A. Heuser, T. Wichter, M. Paul, C.T. Basson, D.A. McDermott, B.B. Lerman, S.M. Markowitz, P.T. Ellinor, C.A. MacRae, S. Peters, K.S. Grossmann, J. Drenckhahn, B. Michely, S. Sasse-Klaassen, W. Birchmeier, R. Dietz, G. Breithardt, E. Schulze-Bahr, and L. Thierfelder Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Nat Genet 36 2004 1162 1164
23. A. Rampazzo, A. Nava, S. Malacrida, G. Beffagna, B. Bauce, V. Rossi, R. Zimbello, B. Simionati, C. Basso, G. Thiene, J.A. Towbin, and G.A. Danieli Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy Am J Hum Genet 71 2002 1200 1206
24. G. McKoy, N. Protonotarios, A. Crosby, A. Tsatsopoulou, A. Anastasakis, A. Coonar, M. Norman, C. Baboonian, S. Jeffery, and W.J. McKenna Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) Lancet 355 2000 2119 2124
25. K. Pilichou, A. Nava, C. Basso, G. Beffagna, B. Bauce, A. Lorenzon, G. Frigo, A. Vettori, M. Valente, J. Towbin, G. Thiene, G.A. Danieli, and A. Rampazzo Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy Circulation 113 2006 1171 1179
26. P. Syrris, D. Ward, A. Evans, A. Asimaki, E. Gandjbakhch, S. Sen-Chowdhry, and W.J. McKenna Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2 Am J Hum Genet 79 2006 978 984
27. T. Yin, and K.J. Green Regulation of desmosome assembly and adhesion Semin Cell Dev Biol 15 2004 665 677
28. G.B. Nam, A. Burashnikov, and C. Antzelevitch Cellular mechanisms underlying the development of catecholaminergic ventricular tachycardia Circulation 111 2005 2727 2733
29. M. Vassalle, and C.I. Lin Calcium overload and cardiac function J Biomed Sci 11 2004 542 565
30. J.M. de Bakker, F.J. van Capelle, M.J. Janse, S. Tasseron, J.T. Vermeulen, N. de Jonge, and J.R. Lahpor Slow conduction in the infarcted human heart. "Zigzag" course of activation Circulation 88 1993 915 926
31. J.A. Groeneweg, P.A. van der Zwaag, J.D. Jongbloed, M.G. Cox, A. Vreeker, R.A. de Boer, J.F. van der Heijden, T.A. van Veen, W.J. McKenna, J.P. van Tintelen, D. Dooijes, and R.N. Hauer Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype? Heart Rhythm 10 2013 548 559