Mutation-positive arrhythmogenic right ventricular dysplasia/ cardiomyopathy: The triangle of dysplasia displaced

Journal of Cardiovascular Electrophysiology

Volumn 24, Issue 12, 2013, Pages 1311-1320

  Te Riele, Anneline S J M ^a,b   James, Cynthia A ^b   Philips, Binu ^b   Rastegar, Neda ^b   Bhonsale, Aditya ^b   Groeneweg, Judith A ^a,c   Murray, Brittney ^b   Tichnell, Crystal ^b   Judge, Daniel P ^b   Van Der Heijden, Jeroen F ^a   Cramer, Maarten J M ^a   Velthuis, Birgitta K ^a   Bluemke, David A ^b,d   Zimmerman, Stefan L ^b   Kamel, Ihab R ^b   Hauer, Richard N W ^a,c   Calkins, Hugh ^b   Tandri, Harikrishna ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

arrhythmogenic right ventricular dysplasia cardiomyopathy; electroanatomic mapping; genetics; implantable cardioverter defibrillator; magnetic resonance imaging; phenotype; ventricular tachcardia

Indexed keywords

ADULT; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CONTROLLED STUDY; ENDOCARDIUM; EPICARDIUM; FEMALE; FOLLOW UP; GENETIC SCREENING; HEART ELECTROPHYSIOLOGY; HEART RIGHT VENTRICLE DYSPLASIA; HEART RIGHT VENTRICLE OUTFLOW TRACT; HEART VENTRICLE ARRHYTHMIA; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION; PRIORITY JOURNAL; RADIOFREQUENCY ABLATION; SCAR;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA/CARDIOMYOPATHY; ELECTROANATOMIC MAPPING; GENETICS; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; MAGNETIC RESONANCE IMAGING; PHENOTYPE; VENTRICULAR TACHCARDIA;

ACTION POTENTIALS; ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BALTIMORE; CATHETER ABLATION; CICATRIX; ELECTROPHYSIOLOGIC TECHNIQUES, CARDIAC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART VENTRICLES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; REGISTRIES; TACHYCARDIA, VENTRICULAR; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84889085540     PISSN: 10453873     EISSN: 15408167     Source Type: Journal    
DOI: 10.1111/jce.12222     Document Type: Article

References (25)

1. Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y,: Right ventricular dysplasia: A report of 24 adult cases. Circulation 1982; 65: 384-398.
2. Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstrom-Lundqvist C, Wlodarska EK, Fontaine G, Camerini F,: Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multicenter study. J Am Coll Cardiol 1997; 30: 1512-1520.
3. Dalal D, Nasir K, Bomma C, Prakasa K, Tandri H, Piccini J, Roguin A, Tichnell C, James C, Russell SD, Judge DP, Abraham T, Spevak PJ, Bluemke DA, Calkins H,: Arrhythmogenic right ventricular dysplasia: A United States experience. Circulation 2005; 112: 3823-3832.
4. Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ,: Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 2007; 115: 1710-1720.
5. Marcus FI, Zareba W, Calkins H, Towbin JA, Basso C, Bluemke DA, Estes NA III, Picard MH, Sanborn D, Thiene G, Wichter T, Cannom D, Wilber DJ, Scheinman M, Duff H, Daubert J, Talajic M, Krahn A, Sweeney M, Garan H, Sakaguchi S, Lerman BB, Kerr C, Kron J, Steinberg JS, Sherrill D, Gear K, Brown M, Severski P, Polonsky S, McNitt S,: Arrhythmogenic right ventricular cardiomyopathy/ dysplasia clinical presentation and diagnostic evaluation: Results from the North American multidisciplinary study. Heart Rhythm 2009; 6: 984-992.
6. Li CH, Lin YJ, Huang JL, Wu TJ, Cheng CC, Lin WS, Tuan TC, Chang SL, Lo LW, Hu YF, Chao TF, Chung FP, Tsai CF, Tsao HM, Chen SA,: Long-term follow-up in patients with arrhythmogenic right ventricular cardiomyopathy. J Cardiovasc Electrophysiol 2012; 23: 750-756.
7. Marcus FI, Abidov A,: Arrhythmogenic right ventricular cardiomyopathy 2012: Diagnostic challenges and treatment. J Cardiovasc Electrophysiol 2012; 23: 1149-1153.
8. Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, Malacrida S, Settimo L, Danieli G, Thiene G, Nava A,: Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 2005; 26: 1666-1675.
9. Sen-Chowdhry S, Prasad SK, Syrris P, Wage R, Ward D, Merrifield R, Smith GC, Firmin DN, Pennell DJ, McKenna WJ,: Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: Comparison with task force criteria and genotype. J Am Coll Cardiol 2006; 48: 2132-2140.
10. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W,: Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Circulation 2010; 121: 1533-1541.
11. Tandri H, Calkins H, Nasir K, Bomma C, Castillo E, Rutberg J, Tichnell C, Lima JA, Bluemke DA,: Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol 2003; 14: 476-482.
12. Dalal D, Tandri H, Judge DP, Amat N, Macedo R, Jain R, Tichnell C, Daly A, James C, Russell SD, Abraham T, Bluemke DA, Calkins H,: Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. J Am Coll Cardiol 2009; 53: 1289-1299.
13. Cerqueira MD, Weissman NJ, Dilsizian V, Jacobs AK, Kaul S, Laskey WK, Pennell DJ, Rumberger JA, Ryan T, Verani MS,: Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: A statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association. Circulation 2002; 105: 539-542.
14. Stevenson WG, Khan H, Sager P, Saxon LA, Middlekauff HR, Natterson PD, Wiener I,: Identification of reentry circuit sites during catheter mapping and radiofrequency ablation of ventricular tachycardia late after myocardial infarction. Circulation 1993; 88: 1647-1670.
15. Corrado D, Basso C, Leoni L, Tokajuk B, Bauce B, Frigo G, Tarantini G, Napodano M, Turrini P, Ramondo A, Daliento L, Nava A, Buja G, Iliceto S, Thiene G,: Three-dimensional electroanatomic voltage mapping increases accuracy of diagnosing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2005; 111: 3042-3050.
16. Marchlinski FE, Callans DJ, Gottlieb CD, Zado E,: Linear ablation lesions for control of unmappable ventricular tachycardia in patients with ischemic and nonischemic cardiomyopathy. Circulation 2000; 101: 1288-1296.
17. Marchlinski FE, Zado E, Dixit S, Gerstenfeld E, Callans DJ, Hsia H, Lin D, Nayak H, Russo A, Pulliam W,: Electroanatomic substrate and outcome of catheter ablative therapy for ventricular tachycardia in setting of right ventricular cardiomyopathy. Circulation 2004; 110: 2293-2298.
18. Bomma C, Rutberg J, Tandri H, Nasir K, Roguin A, Tichnell C, Rodriguez R, James C, Kasper E, Spevak P, Bluemke DA, Calkins H,: Misdiagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol 2004; 15: 300-306.
19. Garcia FC, Bazan V, Zado ES, Ren JF, Marchlinski FE,: Epicardial substrate and outcome with epicardial ablation of ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2009; 120: 366-375.
20. Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M,: Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis ? Circulation 1996; 94: 983-991.
21. Cox MG, van der Smagt JJ, Noorman M, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, Houweling AC, Loh P, Jordaens L, Arens Y, Cramer MJ, Doevendans PA, van Tintelen JP, Wilde AA, Hauer RN,: Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: Impact of new task force criteria. Circ Arrhythm Electrophysiol 2010; 3: 126-133.
22. Barbato E, Pileggi F, Debes AC, Fujioka T, Magalhaes MS, Tranchesi J, San Juan E, Decourt LV,: Study of the sequence of ventricular activation and the QRS complex of the normal human heart using direct epicardial leads. Am Heart J 1958; 55: 867-880.
23. Durrer D, van Dam RT, Freud GE, Janse MJ, Meijler FL, Arzbaecher RC,: Total excitation of the isolated human heart. Circulation 1970; 41: 899-912.
24. Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, Squarcioni CP, McKenna WJ, Thiene G, Basso C, Brousse N, Fontaine G, Saffitz JE,: Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 2004; 1: 3-11.
25. Sato PY, Musa H, Coombs W, Guerrero-Serna G, Patino GA, Taffet SM, Isom LL, Delmar M,: Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. Circ Res 2009; 105: 523-526.