Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers

Circulation: Arrhythmia and Electrophysiology

Volumn 6, Issue 3, 2013, Pages 569-578

  Bhonsale, Aditya ^a   James, Cynthia A ^a   Tichnell, Crystal ^a   Murray, Brittney ^a   Madhavan, Srinivasa ^a   Philips, Binu ^a   Russell, Stuart D ^a   Abraham, Theodore ^a   Tandri, Harikrishna ^a   Judge, Daniel P ^a   Calkins, Hugh ^a  

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

Author keywords

Cardiomyopathies; Electrocardiography; Risk factors; Survival; Tachycardia

Indexed keywords

ADULT; ARTICLE; CARDIAC PATIENT; CARDIOMYOPATHY; DESMOSOME; ELECTROCARDIOGRAM; ELECTROCARDIOGRAPH; EVENT FREE SURVIVAL; FAMILY HISTORY; FEMALE; FOLLOW UP; GENOTYPE; HEART DEPOLARIZATION; HEART REPOLARIZATION; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HIGH RISK PATIENT; HOLTER MONITORING; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; MAJOR CLINICAL STUDY; MALE; MUTATION; PRIORITY JOURNAL; RISK ASSESSMENT; SEX; SUDDEN CARDIAC DEATH; T WAVE INVERSION; AGED; COMPARATIVE STUDY; CONFIDENCE INTERVAL; ELECTROCARDIOGRAPHY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; METHODOLOGY; MIDDLE AGED; MORTALITY; PEDIGREE; PROGNOSIS; PROPORTIONAL HAZARDS MODEL; REGISTER; RISK FACTOR; SURVIVAL; TACHYCARDIA;

CARDIOMYOPATHIES; ELECTROCARDIOGRAPHY; RISK FACTORS; SURVIVAL; TACHYCARDIA;

ADULT; AGED; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CONFIDENCE INTERVALS; DEFIBRILLATORS, IMPLANTABLE; ELECTROCARDIOGRAPHY; ELECTROCARDIOGRAPHY, AMBULATORY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROGNOSIS; PROPORTIONAL HAZARDS MODELS; REGISTRIES; RISK ASSESSMENT; SURVIVAL ANALYSIS; VENTRICULAR FIBRILLATION;

EID: 84882970443     PISSN: 19413149     EISSN: 19413084     Source Type: Journal    
DOI: 10.1161/CIRCEP.113.000233     Document Type: Article

References (32)

1. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318:129-133.
2. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355:2119-2124.
3. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36: 1162-1164.
4. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113:1171-1179.
5. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002;71:1200-1206.
6. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006;79:978-984.
7. Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. 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. 2008;82:809-821.
8. Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H. De novo desminmutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum Mol Genet. 2010;19:4595-4607.
9. Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, Bogomolovas J, Labeit S, Granzier H, Mestroni L. Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation. 2011;124:876-885.
10. Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65: 366-373.
11. van der Zwaag PA, van den Berg MP, Cox MG, de Boer RA, van Spaendonck-Zwarts KY, Hofstra RM, Wiesfeld AC, Hauer RN, Wilde AA, Jongbloed JD, van Tintelen JP. One mutation fits all: Phospholamban R14del causes both dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Circulation. 2010;122:A17663.
12. den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP. Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circ Cardiovasc Genet. 2009;2:428-435.
13. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006;113:1641-1649.
14. Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2006;48:1416-1424.
15. Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN. 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. 2011;123: 2690-2700.
16. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011;8:1308-1339.
17. 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.
18. Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ. Distinguishing arrhythmogenic right ventricular cardiomyopathy/ dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011;57:2317-2327.
19. 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.
20. Steriotis AK, Bauce B, Daliento L, Rigato I, Mazzotti E, Folino AF, Marra MP, Brugnaro L, Nava A. Electrocardiographic pattern in arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol. 2009;103: 1302-1308.
21. Marcus FI, Zareba W, Calkins H, Towbin JA, Basso C, Bluemke DA, Estes NA 3rd, 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.
22. Corrado D, Leoni L, Link MS, Della Bella P, Gaita F, Curnis A, Salerno JU, Igidbashian D, Raviele A, Disertori M, Zanotto G, Verlato R, Vergara G, Delise P, Turrini P, Basso C, Naccarella F, Maddalena F, Estes NA 3rd, Buja G, Thiene G. Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation. 2003;108: 3084-3091.
23. Turrini P, Corrado D, Basso C, Nava A, Bauce B, Thiene G. Dispersion of ventricular depolarization-repolarization: a noninvasive marker for risk stratification in arrhythmogenic right ventricular cardiomyopathy. Circulation. 2001;103:3075-3080.
24. Peters S, Peters H, Thierfelder L. Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasiacardiomyopathy. Int J Cardiol. 1999;71:243-250.
25. Wichter T, Paul M, Wollmann C, Acil T, Gerdes P, Ashraf O, Tjan TD, Soeparwata R, Block M, Borggrefe M, Scheld HH, Breithardt G, Böcker D. Implantable cardioverter/defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term follow-up and complications in 60 patients. Circulation. 2004;109:1503-1508.
26. Bhonsale A, James CA, Tichnell C, Murray B, Gagarin D, Philips B, Dalal D, Tedford R, Russell SD, Abraham T, Tandri H, Judge DP, Calkins H. Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/ cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention. J Am Coll Cardiol. 2011;58: 1485-1496.
27. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, Daliento L, Buja G, Corrado D, Danieli GA, Thiene G. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000;36:2226-2233.
28. 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.
29. Tomaselli GF, Beuckelmann DJ, Calkins HG, Berger RD, Kessler PD, Lawrence JH, Kass D, Feldman AM, Marban E. Sudden cardiac death in heart failure. The role of abnormal repolarization. Circulation. 1994;90:2534-2539.
30. Zabel M, Acar B, Klingenheben T, Franz MR, Hohnloser SH, Malik M. Analysis of 12-lead T-wave morphology for risk stratification after myocardial infarction. Circulation. 2000;102:1252-1257.
31. Migliore F, Zorzi A, Michieli P, Perazzolo Marra M, Siciliano M, Rigato I, Bauce B, Basso C, Toazza D, Schiavon M, Iliceto S, Thiene G, Corrado D. Prevalence of cardiomyopathy in Italian asymptomatic children with electrocardiographic T-wave inversion at preparticipation screening. Circulation. 2012;125:529-538.
32. Jain R, Tandri H, Daly A, Tichnell C, James C, Abraham T, Judge DP, Calkins H, Dalal D. Reader-and instrument-dependent variability in the electrocardiographic assessment of arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol. 2011;22: 561-568.