Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members

Circulation: Cardiovascular Genetics

Volumn 8, Issue 3, 2015, Pages 437-446

  Groeneweg, Judith A ^c,f   Bhonsale, Aditya ^a   James, Cynthia A ^a   Te Riele, Anneline S ^a,c   Dooijes, Dennis ^d   Tichnell, Crystal ^a   Murray, Brittney ^a   Wiesfeld, Ans C P ^g   Sawant, Abhishek C ^a   Kassamali, Bina ^a   Atsma, Douwe E ⁱ   Volders, Paul G ^j   De Groot, Natasja M ^k   De Boer, Karin ^l   Zimmerman, Stefan L ^b   Kamel, Ihab R ^b   Van Der Heijden, Jeroen F ^c   Russell, Stuart D ^a   Jan Cramer, Maarten ^c   Tedford, Ryan J ^a   Doevendans, Pieter A ^c   Van Veen, Toon A ^e   Tandri, Harikrishna ^a   Wilde, Arthur A ^m   Judge, Daniel P ^a   Van Tintelen, J Peter ^f,h,n   Hauer, Richard N ^c,f   Calkins, Hugh ^a   more..

^a Division of Cardiology   (United States)

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

^c Departments of Cardiology   (Netherlands)

^d Departments of Genetics   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

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

^g Departments of Cardiology   (Netherlands)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^j MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^k ERASMUS MEDICAL CENTER   (Netherlands)

^l VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^m ACADEMIC MEDICAL CENTER   (Netherlands)

ⁿ Durrer Center for Cardiogenetic Research   (Netherlands)

more..

Author keywords

arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular dysplasia cardiomyopathy; cardiomyopathies; genetics

Indexed keywords

MEMBRANE PROTEIN; PHOSPHOLAMBAN; PLAKOPHILIN; PLAKOPHILIN 2; TRANSMEMBRANE PROTEIN 43; UNCLASSIFIED DRUG; DESMOCOLLIN; DESMOGLEIN 2; DESMOPLAKIN; DSC2 PROTEIN, HUMAN; DSG2 PROTEIN, HUMAN; DSP PROTEIN, HUMAN; JUP PROTEIN, HUMAN; PKP2 PROTEIN, HUMAN;

ADULT; ARTICLE; CARDIOVASCULAR MORTALITY; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; EVENT FREE SURVIVAL; EXON; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE DELETION; GENETIC SCREENING; GENETIC TRAIT; HEART ARREST; HEART RIGHT VENTRICLE DYSPLASIA; HEART TRANSPLANTATION; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH; SUSTAINED VENTRICULAR ARRHYTHMIA; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; GENETIC POLYMORPHISM; GENETICS; KAPLAN MEIER METHOD; MORTALITY;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DEATH, SUDDEN, CARDIAC; DEFIBRILLATORS, IMPLANTABLE; DESMOCOLLINS; DESMOGLEIN 2; DESMOPLAKINS; FEMALE; FOLLOW-UP STUDIES; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; PLAKOPHILINS; POLYMORPHISM, GENETIC;

EID: 84936947884     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.114.001003     Document Type: Article

References (33)

1. Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Right ventricular dysplasia: a report of 24 adult cases. Circulation 1982 65 384 398
2. 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
3. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000 355 2119 2124. doi: 10.1016/S0140-6736(00)02379-5.
4. Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, 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. doi: 10.1086/344208.
5. Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004 36 1162 1164. doi: 10.1038/ng1461.
6. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006 113 1171 1179. doi: 10.1161/CIRCULATIONAHA.105.583674.
7. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 2006 79 978 984. doi: 10.1086/509122.
8. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006 113 1641 1649. doi: 10.1161/CIRCULATIONAHA.105.568642.
9. van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006 113 1650 1658. doi: 10.1161/CIRCULATIONAHA.105.609719.
10. Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, 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. doi: 10.1016/j.ajhg.2008.01.010.
11. van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, 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 2012 14 1199 1207. doi: 10.1093/eurjhf/hfs119.
12. Blomström-Lundqvist C, Sabel KG, Olsson SB., A long term follow up of 15 patients with arrhythmogenic right ventricular dysplasia. Br Heart J 1987 58 477 488
13. Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C, Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000 36 2226 2233
14. Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G., Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2004 110 1879 1884. doi: 10.1161/01.CIR.0000143375.93288.82.
15. Lemola K, Brunckhorst C, Helfenstein U, Oechslin E, Jenni R, Duru F., Predictors of adverse outcome in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: long term experience of a tertiary care centre. Heart 2005 91 1167 1172. doi: 10.1136/hrt.2004.038620.
16. Dalal D, Nasir K, Bomma C, Prakasa K, Tandri H, Piccini J, Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 2005 112 3823 3832. doi: 10.1161/CIRCULATIONAHA.105.542266.
17. Bauce B, Rampazzo A, Basso C, Mazzotti E, Rigato I, Steriotis A, Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. Heart Rhythm 2011 8 1686 1695. doi: 10.1016/j.hrthm.2011.06.026.
18. Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, 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. doi: 10.1161/CIRCULATIONAHA.110.988287.
19. Pinamonti B, Dragos AM, Pyxaras SA, Merlo M, Pivetta A, Barbati G, Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry. Eur Heart J 2011 32 1105 1113. doi: 10.1093/eurheartj/ehr040.
20. Quarta G, Muir A, Pantazis A, Syrris P, Gehmlich K, Garcia-Pavia P, Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation 2011 123 2701 2709. doi: 10.1161/CIRCULATIONAHA.110.976936.
21. Li CH, Lin YJ, Huang JL, Wu TJ, Cheng CC, Lin WS, Long-term follow-up in patients with arrhythmogenic right ventricular cardiomyopathy. J Cardiovasc Electrophysiol 2012 23 750 756. doi: 10.1111/j.1540-8167.2011.02288.x.
22. Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B, Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Circ Arrhythm Electrophysiol 2013 6 569 578. doi: 10.1161/CIRCEP.113.000233.
23. Heidbüchel H, Hoogsteen J, Fagard R, Vanhees L, Ector H, Willems R, High prevalence of right ventricular involvement in endurance athletes with ventricular arrhythmias. Role of an electrophysiologic study in risk stratification. Eur Heart J 2003 24 1473 1480
24. La Gerche A, Robberecht C, Kuiperi C, Nuyens D, Willems R, de Ravel T, Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. Heart 2010 96 1268 1274. doi: 10.1136/hrt.2009.189621.
25. Heidbuchel H, Prior DL, La Gerche A., Ventricular arrhythmias associated with long-term endurance sports: what is the evidence? Br J Sports Med 2012 46 Suppl 1 i44 i50. doi: 10.1136/bjsports-2012-091162.
26. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010 121 1533 1541. doi: 10.1161/CIRCULATIONAHA.108.840827.
27. den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet 2009 2 428 435. doi: 10.1161/CIRCGENETICS.109.858217.
28. Kirchhof P, Fabritz L, Zwiener M, Witt H, Schäfers M, Zellerhoff S, Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation 2006 114 1799 1806. doi: 10.1161/CIRCULATIONAHA.106.624502.
29. James CA, Bhonsale A, Tichnell C, Murray B, Russell SD, Tandri H, Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol 2013 62 1290 1297. doi: 10.1016/j.jacc.2013.06.033.
30. Wang Q, Lin JL, Chan SY, Lin JJ., The Xin repeat-containing protein, mXinβ initiates the maturation of the intercalated discs during postnatal heart development. Dev Biol 2013 374 264 280. doi: 10.1016/j.ydbio.2012.12.007.
31. Vreeker A, van Stuijvenberg L, Hund TJ, Mohler PJ, Nikkels PG, van Veen TA., Assembly of the cardiac intercalated disk during pre- and postnatal development of the human heart. PLoS One 2014 9 e94722. doi: 10.1371/journal.pone.0094722.
32. Asimaki A, Kapoor S, Plovie E, Karin Arndt A, Adams E, Liu Z, Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy. Sci Transl Med 2014 6 240ra74. doi: 10.1126/scitranslmed.3008008.
33. van der Zwaag PA, van Rijsingen IA, de Ruiter R, Nannenberg EA, Groeneweg JA, Post JG, Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J 2013 21 286 293. doi: 10.1007/s12471-013-0401-3.