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Volumn 21, Issue 4, 2012, Pages 494-504

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): A review of molecular and clinical literature

Author keywords

Arrhythmogenic cardiomyopathy; Arrhythmogenic right ventricular dysplasia cardiomyopathy; Desmosome; Genetic counseling; Sudden cardiac death

Indexed keywords

DIAGNOSTIC ERROR; EXERCISE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; PATHOPHYSIOLOGY; REVIEW; RISK FACTOR; SIGNAL TRANSDUCTION;

EID: 84863618648     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-012-9497-7     Document Type: Article
Times cited : (58)

References (101)
  • 1
    • 0037811950 scopus 로고    scopus 로고
    • A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
    • DOI 10.1016/S0735-1097(03)00628-4
    • Alcalai, R., Metzger, S., Rosenheck, S., Meiner, V., & Chajek-Shaul, T. (2003). A recessive mutation in desmoplakin causes arrhythmo-genic right ventricular dysplasia, skin disorder, and woolly hair. Journal of the American College of Cardiology, 16(2), 319-327. (Pubitemid 36851425)
    • (2003) Journal of the American College of Cardiology , vol.42 , Issue.2 , pp. 319-327
    • Alcalai, R.1    Metzger, S.2    Rosenheck, S.3    Meiner, V.4    Chajek-Shaul, T.5
  • 3
    • 34147208940 scopus 로고    scopus 로고
    • Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2
    • Awad, M. M., Dalal, D., Tichnell, C., James, C., Tucker, A., Abraham, T., et al. (2006b). Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Human Mutation, 27(11), 1157.
    • (2006) Human Mutation , vol.27 , Issue.11 , pp. 1157
    • Awad, M.M.1    Dalal, D.2    Tichnell, C.3    James, C.4    Tucker, A.5    Abraham, T.6
  • 4
    • 42649092901 scopus 로고    scopus 로고
    • Mechanisms of disease: Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • DOI 10.1038/ncpcardio1182, PII NCPCARDIO1182
    • Awad, M. M., Calkins, H., & Judge, D. P. (2008). Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nature Clinical Practice. Cardiovascular Medicine, 5(5), 258-267. (Pubitemid 351593909)
    • (2008) Nature Clinical Practice Cardiovascular Medicine , vol.5 , Issue.5 , pp. 258-267
    • Awad, M.M.1    Calkins, H.2    Judge, D.P.3
  • 7
    • 64049101148 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy
    • Basso, C., Corrado, D., Marcus, F. I., Nava, A., & Thiene, G. (2009). Arrhythmogenic right ventricular cardiomyopathy. Lancet, 11(9671), 1289-1300.
    • (2009) Lancet , vol.11 , Issue.9671 , pp. 1289-1300
    • Basso, C.1    Corrado, D.2    Marcus, F.I.3    Nava, A.4    Thiene, G.5
  • 10
    • 33746866010 scopus 로고    scopus 로고
    • Pregnancy in women with arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • DOI 10.1016/j.ejogrb.2005.10.011, PII S0301211505005610
    • Bauce, B., Daliento, L., Frigo, G., Russo, G., & Nava, A. (2006). Pregnancy in women with arrhythmogenic right ventricular cardiomyopathy/ dysplasia. European Journal of Obstetrics, Gyne-cology, and Reproductive Biology, 127(2), 186-189. (Pubitemid 44192563)
    • (2006) European Journal of Obstetrics Gynecology and Reproductive Biology , vol.127 , Issue.2 , pp. 186-189
    • Bauce, B.1    Daliento, L.2    Frigo, G.3    Russo, G.4    Nava, A.5
  • 11
    • 76949085329 scopus 로고    scopus 로고
    • Differences and similarities between arrhythmogenic right ventricular cardiomyopathy and athlete's heart adaptations
    • Bauce, B., Frigo, G., Benini, G., Michieli, P., Basso, C., Folino, A. F., et al. (2010). Differences and similarities between arrhythmogenic right ventricular cardiomyopathy and athlete's heart adaptations. British Journal of Sports Medicine, 44(2), 148-154.
    • (2010) British Journal of Sports Medicine , vol.44 , Issue.2 , pp. 148-154
    • Bauce, B.1    Frigo, G.2    Benini, G.3    Michieli, P.4    Basso, C.5    Folino, A.F.6
  • 13
    • 80053048855 scopus 로고    scopus 로고
    • Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/ cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention
    • Bhonsale, A., James, C. A., Tichnell, C., Murray, B., Gagarin, D., Philips, B., et al. (2011). Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter- defibrillator implantation for primary prevention. Journal of the American College of Cardiology, 58(14), 1485-1496.
    • (2011) Journal of the American College of Cardiology , vol.58 , Issue.14 , pp. 1485-1496
    • Bhonsale, A.1    James, C.A.2    Tichnell, C.3    Murray, B.4    Gagarin, D.5    Philips, B.6
  • 14
    • 0030589631 scopus 로고    scopus 로고
    • Embryonic heart and skin defects in mice lacking plakoglobin
    • DOI 10.1006/dbio.1996.0346
    • Bierkamp, C., Mclaughlin, K. J., Schwarz, H., Huber, O., & Kemler, R. (1996). Embryonic heart and skin defects in mice lacking plako-globin. Developmental Biology, 180(2), 780-785. (Pubitemid 27037381)
    • (1996) Developmental Biology , vol.180 , Issue.2 , pp. 780-785
    • Bierkamp, C.1    McLaughlin, K.J.2    Schwarz, H.3    Huber, O.4    Kemler, R.5
  • 16
    • 0034023785 scopus 로고    scopus 로고
    • Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization
    • Bonné, S., van Hengel, J., & van Roy, F. (2000). Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization. Cytogenetics and Cell Genetics, 88(3-4), 286-287. (Pubitemid 30311607)
    • (2000) Cytogenetics and Cell Genetics , vol.88 , Issue.3-4 , pp. 286-287
    • Bonne, S.1    Van Hengel, J.2    Van Roy, F.3
  • 17
    • 35148824661 scopus 로고    scopus 로고
    • An updated review of implantable cardioverter/defibrillators, induced anxiety, and quality of life
    • DOI 10.1016/j.psc.2007.07.002, PII S0193953X07000718, Psychosomatic Medicine
    • Bostwich, J. M., & Sola, C. L. (2007). An updated review of implant-able cardioverter/defibrillators, induced anxiety, and quality of life. Psychiatric Clinics of North America, 30(4), 677-688. (Pubitemid 47552649)
    • (2007) Psychiatric Clinics of North America , vol.30 , Issue.4 , pp. 677-688
    • Bostwick, J.M.1    Sola, C.L.2
  • 18
    • 0032574651 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: Are they different diseases?
    • Burke, A. P., Farb, A., Tashko, G., & Virmani, R. (1998). Arrhythmo-genic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium: are they different diseases? Circulation, 97(16), 1571-1580. (Pubitemid 28186185)
    • (1998) Circulation , vol.97 , Issue.16 , pp. 1571-1580
    • Burke, A.P.1    Farb, A.2    Tashko, G.3    Virmani, R.4
  • 19
    • 30644470177 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia: Is there a role for viruses?
    • DOI 10.1016/j.carpath.2005.10.004, PII S1054880705001390
    • Calabrese, F., Basso, C., Carturan, E., Valente, M., & Thiene, G. (2006). Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? Cardiovascular Pathology, 15(1), 11-17. (Pubitemid 43088765)
    • (2006) Cardiovascular Pathology , vol.15 , Issue.1 , pp. 11-17
    • Calabrese, F.1    Basso, C.2    Carturan, E.3    Valente, M.4    Thiene, G.5
  • 21
    • 78649373427 scopus 로고    scopus 로고
    • Genetic counselling and testing in cardiomyopa-thies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
    • Charron, P., Arad, M., Arbustini, E., Basso, C., Bilinska, Z., Elliott, P., et al. (2010). Genetic counselling and testing in cardiomyopa-thies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. European Heart Journal, 31(22), 2715-2726.
    • (2010) European Heart Journal , vol.31 , Issue.22 , pp. 2715-2726
    • Charron, P.1    Arad, M.2    Arbustini, E.3    Basso, C.4    Bilinska, Z.5    Elliott, P.6
  • 23
    • 33645757523 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia: Clinical impact of molecular genetic studies
    • Corrado, D., & Thiene, G. (2006). Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation, 113(13), 1634-1637.
    • (2006) Circulation , vol.113 , Issue.13 , pp. 1634-1637
    • Corrado, D.1    Thiene, G.2
  • 24
    • 0024996643 scopus 로고
    • Sudden death in young competitive athletes: Clinicopathologic correlations in 22 cases
    • DOI 10.1016/0002-9343(90)90176-E
    • Corrado, D., Thiene, G., Nava, A., Rossi, L., & Pennelli, N. (1990). Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases. American Journal of Medicine, 89, 588-596. (Pubitemid 20384315)
    • (1990) American Journal of Medicine , vol.89 , Issue.5 , pp. 588-596
    • Corrado, D.1    Thiene, G.2    Nava, A.3    Rossi, L.4    Pennelli, N.5
  • 26
    • 0034064916 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy: Diagnosis, prognosis, and treatment
    • Corrado, D., Basso, C., & Thiene, G. (2000). Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment. Heart, 83(5), 588-595. (Pubitemid 30316741)
    • (2000) Heart , vol.83 , Issue.5 , pp. 588-595
    • Corrado, D.1    Basso, C.2    Thiene, G.3
  • 27
    • 0242353624 scopus 로고    scopus 로고
    • Does sports activity enhance the risk of sudden death in adolescents and young adults?
    • DOI 10.1016/j.jacc.2003.03.002
    • Corrado, D., Basso, C., Rizzoli, G., Schiavon, M., & Thiene, G. (2003a). Does sports activity enhance the risk of sudden death in adolescents and young adults? Journal of the American College of Cardiology, 42, 1959-1963. (Pubitemid 37485572)
    • (2003) Journal of the American College of Cardiology , vol.42 , Issue.11 , pp. 1959-1963
    • Corrado, D.1    Basso, C.2    Rizzoli, G.3    Schiavon, M.4    Thiene, G.5
  • 30
    • 65549161398 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy: An update
    • Corrado, D., Basso, C., & Thiene, G. (2009). Arrhythmogenic right ventricular cardiomyopathy: an update. Heart, 95(9), 766-773.
    • (2009) Heart , vol.95 , Issue.9 , pp. 766-773
    • Corrado, D.1    Basso, C.2    Thiene, G.3
  • 31
    • 77957267348 scopus 로고    scopus 로고
    • Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia
    • Corrado, D., Calkins, H., Link, M. S., Leoni, L., Favale, S., Bevilac-qua, M., et al. (2010). Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. Circulation, 122(12), 1144-1152.
    • (2010) Circulation , vol.122 , Issue.12 , pp. 1144-1152
    • Corrado, D.1    Calkins, H.2    Link, M.S.3    Leoni, L.4    Favale, S.5    Bevilac-qua, M.6
  • 32
    • 79952537763 scopus 로고    scopus 로고
    • Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • Corrado, D., Basso, C., Pilichou, K., & Thiene, G. (2011). Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart, 97(7), 530-539.
    • (2011) Heart , vol.97 , Issue.7 , pp. 530-539
    • Corrado, D.1    Basso, C.2    Pilichou, K.3    Thiene, G.4
  • 33
    • 79959568500 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular dysplasia/cardiomyopathy: Pathogenic desmo-some mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/car-diomyopathy genotype-phenotype follow-up study
    • Cox, M. G., van der Zwaag, P. A., van der Werf, C., van der Smagt, J. J., Noorman, M., Bhuiyan, Z. A., et al. (2011). Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmo-some mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/car-diomyopathy genotype-phenotype follow-up study. Circulation, 123(23), 2690-2700.
    • (2011) Circulation , vol.123 , Issue.23 , pp. 2690-2700
    • Cox, M.G.1    Van Der Zwaag, P.A.2    Van Der Werf, C.3    Van Der Smagt, J.J.4    Noorman, M.5    Bhuiyan, Z.A.6
  • 35
    • 33645787474 scopus 로고    scopus 로고
    • Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
    • Dalal, D., Molin, L. H., Piccini, J., Tichnell, C., James, C., Bomma, C., et al. (2006). Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation, 113(13), 1641-1649.
    • (2006) Circulation , vol.113 , Issue.13 , pp. 1641-1649
    • Dalal, D.1    Molin, L.H.2    Piccini, J.3    Tichnell, C.4    James, C.5    Bomma, C.6
  • 36
    • 0002808348 scopus 로고    scopus 로고
    • Psychosocial counseling
    • D. Baker, J. Schuette, & W. R. Uhlmann Eds., Hoboken: Wiley-Liss
    • Djurdjinovic, L. (1998). Psychosocial counseling. In D. Baker, J. Schuette, & W. R. Uhlmann (Eds.), A guide to genetic counseling (pp. 127-170). Hoboken: Wiley-Liss.
    • (1998) A Guide to Genetic Counseling , pp. 127-170
    • Djurdjinovic, L.1
  • 38
    • 0018012712 scopus 로고
    • Electrophysiological exploration in 4 cases of right ventricular dysplasia due to arrhythmia
    • Frank, R., Fontaine, G., Vedel, J., Mialet, G., Sol, C., Guiraudon, G., et al. (1978). Electrocardiology of 4 cases of right ventricular dys-plasia inducing arrhythmia. Archives des Maladies du Coeur et des Vaisseaux, 71(9), 963-972. (Pubitemid 9026766)
    • (1978) Archives des Maladies du Coeur et des Vaisseaux , vol.71 , Issue.9 , pp. 963-972
    • Frank, R.1    Fontaine, G.2    Vedel, J.3
  • 39
    • 77952971659 scopus 로고    scopus 로고
    • Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Spectrum of mutations and clinical impact in practice
    • Fressart, V., Duthoit, G., Donal, E., Probst, V., Deharo, J. C., Chevalier, P., et al. (2010). Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace, 12(6), 861-868.
    • (2010) Europace , vol.12 , Issue.6 , pp. 861-868
    • Fressart, V.1    Duthoit, G.2    Donal, E.3    Probst, V.4    Deharo, J.C.5    Chevalier, P.6
  • 40
    • 0026703199 scopus 로고
    • Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy
    • Gallo, P., d'Amati, G., & Pelliccia, F. (1992). Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy. Hum Pathol, 23(8), 948-952.
    • (1992) Hum Pathol , vol.23 , Issue.8 , pp. 948-952
    • Gallo, P.1    D'Amati, G.2    Pelliccia, F.3
  • 41
    • 33745848407 scopus 로고    scopus 로고
    • Suppression of canonical Wnt/β-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
    • DOI 10.1172/JCI27751
    • Garcia-Gras, E., Lombardi, R., Giocondo, M. J., Willerson, J. T., Schneider, M. D., Khoury, D. S., et al. (2006). Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomy-opathy. The Journal of Clinical Investigation, 116(7), 2012-2021. (Pubitemid 44033325)
    • (2006) Journal of Clinical Investigation , vol.116 , Issue.7 , pp. 2012-2021
    • Garcia-Gras, E.1    Lombardi, R.2    Giocondo, M.J.3    Willerson, J.T.4    Schneider, M.D.5    Khoury, D.S.6    Marian, A.J.7
  • 46
    • 33646797740 scopus 로고    scopus 로고
    • How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases
    • James, C. A., Hadley, D. W., Holtzman, N. A., & Winkelstein, J. A. (2006). How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genetics in Medicine, 8(4), 234-242.
    • (2006) Genetics in Medicine , vol.8 , Issue.4 , pp. 234-242
    • James, C.A.1    Hadley, D.W.2    Holtzman, N.A.3    Winkelstein, J.A.4
  • 51
    • 81255209231 scopus 로고    scopus 로고
    • Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy
    • Li, D., Liu, Y., Maruyama, M., Zhu, W., Chen, H., Zhang, W., et al. (2011). Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. Human Molecular Genetics, 20(23), 4582-4596.
    • (2011) Human Molecular Genetics , vol.20 , Issue.23 , pp. 4582-4596
    • Li, D.1    Liu, Y.2    Maruyama, M.3    Zhu, W.4    Chen, H.5    Zhang, W.6
  • 52
    • 66149101609 scopus 로고    scopus 로고
    • Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhyth-mogenic right ventricular cardiomyopathy
    • Lombardi, R., Dong, J., Rodriguez, G., Bell, A., Leung, T. K., & Schwartz, R. J. (2009). Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhyth-mogenic right ventricular cardiomyopathy. Circulation Research, 104(9), 1076-1084.
    • (2009) Circulation Research , vol.104 , Issue.9 , pp. 1076-1084
    • Lombardi, R.1    Dong, J.2    Rodriguez, G.3    Bell, A.4    Leung, T.K.5    Schwartz, R.J.6
  • 53
    • 0029836032 scopus 로고    scopus 로고
    • Evidence of apoptosis in arrhythmogenic right ventricular dysplasia
    • DOI 10.1056/NEJM199610173351604
    • Mallat, Z., Tedgui, A., Fontaliran, F., Frank, R., Durigon, M., & Fontaine, G. (1996). Evidence of apoptosis in arrhythmogenic right ventricular dysplasia. The New England Journal of Medicine, 335(16), 1190-1196. (Pubitemid 26339773)
    • (1996) New England Journal of Medicine , vol.335 , Issue.16 , pp. 1190-1196
    • Mallat, Z.1    Tedgui, A.2    Fontaliran, F.3    Frank, R.4    Durigon, M.5    Fontaine, G.6
  • 54
    • 0020077022 scopus 로고
    • Right ventricular dysplasia: A report of 24 adult cases
    • Marcus, F. I., Fontaine, G. H., Guiraudon, G., Frank, R., Laurenceau, J. L., Malergue, C., et al. (1982). Right ventricular dysplasia: a report of 24 adult cases. Circulation, 65(2), 384-398. (Pubitemid 12219036)
    • (1982) Circulation , vol.65 , Issue.2 , pp. 384-398
    • Marcus, F.I.1    Fontaine, G.H.2    Guiraudon, G.3
  • 55
    • 67549116786 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: Results from the North American Multidisciplinary Study
    • Marcus, F. I., Zareba, W., Calkins, H., Towbin, J. A., Basso, C., Bluemke, D. A., et al. (2009). Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study. Heart Rhythm, 6(7), 984-992.
    • (2009) Heart Rhythm , vol.6 , Issue.7 , pp. 984-992
    • Marcus, F.I.1    Zareba, W.2    Calkins, H.3    Towbin, J.A.4    Basso, C.5    Bluemke, D.A.6
  • 56
    • 77949549622 scopus 로고    scopus 로고
    • Pitfalls in the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • Marcus, F., Basso, C., Gear, K., & Sorrell, V. L. (2010a). Pitfalls in the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. American Journal of Cardiology, 105(7), 1036-1039.
    • (2010) American Journal of Cardiology , vol.105 , Issue.7 , pp. 1036-1039
    • Marcus, F.1    Basso, C.2    Gear, K.3    Sorrell, V.L.4
  • 57
    • 77950482741 scopus 로고    scopus 로고
    • Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria
    • Marcus, F. I., McKenna, W. J., Sherrill, D., Basso, C., Bauce, B., Bluemke, D. A., et al. (2010b). Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. European Heart Journal, 31(7), 806-814.
    • (2010) European Heart Journal , vol.31 , Issue.7 , pp. 806-814
    • Marcus, F.I.1    McKenna, W.J.2    Sherrill, D.3    Basso, C.4    Bauce, B.5    Bluemke, D.A.6
  • 59
    • 0028347223 scopus 로고
    • Diagnosis of arrhyth-mogenic right ventricular dysplasia/cardiomyopathy. 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
    • McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., et al. (1994). Diagnosis of arrhyth-mogenic right ventricular dysplasia/cardiomyopathy. 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. Br Heart J, 71(3), 215-218.
    • (1994) Br Heart J , vol.71 , Issue.3 , pp. 215-218
    • McKenna, W.J.1    Thiene, G.2    Nava, A.3    Fontaliran, F.4    Blomstrom-Lundqvist, C.5    Fontaine, G.6
  • 60
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy, G., Protonotarios, N., Crosby, A., Tsatsopoulou, A., Anastasakis, A., Coonar, A., et al. (2000). Identification of a deletion in plako-globin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355(9221), 2119-2124. (Pubitemid 30364661)
    • (2000) Lancet , vol.355 , Issue.9221 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3    Tsatsopoulou, A.4    Anastasakis, A.5    Coonar, A.6    Norman, M.7    Baboonian, C.8    Jeffery, S.9    McKenna, W.J.10
  • 61
    • 41649107651 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
    • Merner, N. D., Hodgkinson, K. A., Haywood, A. F., Connors, S., French, V. M., Drenckhahn, J. D., et al. (2008). Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. American Journal of Human Genetics, 82(4), 809-821.
    • (2008) American Journal of Human Genetics , vol.82 , Issue.4 , pp. 809-821
    • Merner, N.D.1    Hodgkinson, K.A.2    Haywood, A.F.3    Connors, S.4    French, V.M.5    Drenckhahn, J.D.6
  • 62
    • 0023685720 scopus 로고
    • Famililal occurrence of right ventricular dysplasia: A study involving nine families
    • Nava, A., Thiene, G., & Canciani, B. (1988). Famililal occurrence of right ventricular dysplasia: a study involving nine families. Journal of the American College of Cardiology, 12, 1222-1228.
    • (1988) Journal of the American College of Cardiology , vol.12 , pp. 1222-1228
    • Nava, A.1    Thiene, G.2    Canciani, B.3
  • 63
    • 0033662201 scopus 로고    scopus 로고
    • Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy
    • Nava, A., Bauce, B., Basso, C., Muriago, M., Rampazzo, A., Villanova, C., et al. (2000). Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. Journal of the American College of Cardiology, 36(7), 2226-2233.
    • (2000) Journal of the American College of Cardiology , vol.36 , Issue.7 , pp. 2226-2233
    • Nava, A.1    Bauce, B.2    Basso, C.3    Muriago, M.4    Rampazzo, A.5    Villanova, C.6
  • 64
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and kerato-derma
    • Norgett, E. E., Hatsell, S. J., Carvajal-Huerta, L., Cabezas, J. C., Common, J., Purkis, P. E., et al. (2000). Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and kerato-derma. Human Molecular Genetics, 9(18), 2761-2766.
    • (2000) Human Molecular Genetics , vol.9 , Issue.18 , pp. 2761-2766
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3    Cabezas, J.C.4    Common, J.5    Purkis, P.E.6
  • 65
    • 33745190262 scopus 로고    scopus 로고
    • Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
    • Norgett, E. E., Lucke, T. W., Bowers, B., Munro, C. S., Leigh, I. M., Kelsell, D. P., et al. (2006). Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. The Journal of Investigative Dermatology, 126(7), 1651-1654.
    • (2006) The Journal of Investigative Dermatology , vol.126 , Issue.7 , pp. 1651-1654
    • Norgett, E.E.1    Lucke, T.W.2    Bowers, B.3    Munro, C.S.4    Leigh, I.M.5    Kelsell, D.P.6
  • 67
    • 33645527574 scopus 로고    scopus 로고
    • Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
    • Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., et al. (2006). Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation, 113(9), 1171-1179.
    • (2006) Circulation , vol.113 , Issue.9 , pp. 1171-1179
    • Pilichou, K.1    Nava, A.2    Basso, C.3    Beffagna, G.4    Bauce, B.5    Lorenzon, A.6
  • 68
    • 68149149500 scopus 로고    scopus 로고
    • Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy
    • Pilichou, K., Remme, C. A., Basso, C., Campian, M. E., Rizzo, S., Barnett, P., et al. (2009). Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. The Journal of Experimental Medicine, 206(8), 1787-1802.
    • (2009) The Journal of Experimental Medicine , vol.206 , Issue.8 , pp. 1787-1802
    • Pilichou, K.1    Remme, C.A.2    Basso, C.3    Campian, M.E.4    Rizzo, S.5    Barnett, P.6
  • 69
    • 0028807911 scopus 로고
    • A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43
    • Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., et al. (1995). A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Human Molecular Genetics, 4(11), 2151-2154.
    • (1995) Human Molecular Genetics , vol.4 , Issue.11 , pp. 2151-2154
    • Rampazzo, A.1    Nava, A.2    Erne, P.3    Eberhard, M.4    Vian, E.5    Slomp, P.6
  • 73
    • 0032969968 scopus 로고    scopus 로고
    • Examining the psychosocial impact of implantable cardioverter defibrillators: A literature review
    • Sears, S. E., Todaro, J. F., Lewis, T. S., Sotile, W., & Conti, J. B. (1999). Examining the psychosocial impact of implantable cardi-overter defibrillators: A literature review. Clinical Cardiology, 22(7), 481-489. (Pubitemid 29302759)
    • (1999) Clinical Cardiology , vol.22 , Issue.7 , pp. 481-489
    • Sears, S.F.1    Todaro, J.F.2    Lewis, T.S.3    Sotile, W.4    Conti, J.B.5
  • 74
    • 14244250082 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy: Clinical presentation, diagnosis, and management
    • DOI 10.1016/j.amjmed.2004.04.028
    • Sen-Chowdhry, S., Lowe, M. D., Sporton, S. C., & McKenna, W. J. (2004). Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management. American Journal of Medicine, 117(9), 685-695. (Pubitemid 40288176)
    • (2004) American Journal of Medicine , vol.117 , Issue.9 , pp. 685-695
    • Sen-Chowdhry, S.1    Lowe, M.D.2    Sporton, S.C.3    McKenna, W.J.4
  • 75
    • 25844489978 scopus 로고    scopus 로고
    • Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: Early genotype-phenotype studies
    • DOI 10.1093/eurheartj/ehi343
    • Sen-Chowdhry, S., Syrris, P., & McKenna, W. J. (2005a). Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies. European Heart Journal, 26(16), 1582-1584. (Pubitemid 41389687)
    • (2005) European Heart Journal , vol.26 , Issue.16 , pp. 1582-1584
    • Sen-Chowdhry, S.1    Syrris, P.2    McKenna, W.J.3
  • 77
    • 34247280500 scopus 로고    scopus 로고
    • Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression
    • DOI 10.1161/CIRCULATIONAHA.106.660241
    • Sen-Chowdhry, S., Syrris, P., Ward, D., Asimaki, A., Sevdalis, E., & McKenna, W. J. (2007). Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardio-myopathy provides novel insights into patterns of disease expression. Circulation, 115(13), 1710-1720. (Pubitemid 46648607)
    • (2007) Circulation , vol.115 , Issue.13 , pp. 1710-1720
    • Sen-Chowdhry, S.1    Syrris, P.2    Ward, D.3    Asimaki, A.4    Sevdalis, E.5    McKenna, W.J.6
  • 80
    • 78649283173 scopus 로고    scopus 로고
    • Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy. Circulation
    • Sen-Chowdhry, S., Syrris, P., Pantazis, A., Quarta, G., McKenna, W. J., & Chambers, J. C. (2010b). Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy. Circulation. Cardiovascular Genetics, 3(4), 323-330.
    • (2010) Cardiovascular Genetics , vol.3 , Issue.4 , pp. 323-330
    • Sen-Chowdhry, S.1    Syrris, P.2    Pantazis, A.3    Quarta, G.4    McKenna, W.J.5    Chambers, J.C.6
  • 81
    • 33751073197 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
    • DOI 10.1086/509122
    • Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S., et al. (2006). Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. American Journal of Human Genetics, 79(5), 978-984. (Pubitemid 44763413)
    • (2006) American Journal of Human Genetics , vol.79 , Issue.5 , pp. 978-984
    • Syrris, P.1    Ward, D.2    Evans, A.3    Asimaki, A.4    Gandjbakhch, E.5    Sen-Chowdhry, S.6    McKenna, W.J.7
  • 82
    • 0346365088 scopus 로고    scopus 로고
    • Circumstances of Death and Gross and Microscopic Observations in a Series of 200 Cases of Sudden Death Associated with Arrhythmogenic Right Ventricular Cardiomyopathy and/or Dysplasia
    • DOI 10.1161/01.CIR.0000108396.65446.21
    • Tabib, A., Loire, R., Chalabreysse, L., Meyronnet, D., Miras, A., Malicier, D., et al. (2003). Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation, 108(24), 3000-3005. (Pubitemid 37553569)
    • (2003) Circulation , vol.108 , Issue.24 , pp. 3000-3005
    • Tabib, A.1    Loire, R.2    Chalabreysse, L.3    Meyronnet, D.4    Miras, A.5    Malicier, D.6    Thivolet, F.7    Chevalier, P.8    Bouvagnet, P.9
  • 83
    • 22144439771 scopus 로고    scopus 로고
    • Sudden unexplained death: Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives
    • DOI 10.1161/CIRCULATIONAHA.104.522581
    • Tan, H. L., Hofman, N., van Langen, I. M., van der Wal, A. C., & Wilde, A. A. (2005). Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation, 112(2), 207-213. (Pubitemid 40982303)
    • (2005) Circulation , vol.112 , Issue.2 , pp. 207-213
    • Tan, H.L.1    Hofman, N.2    Van Langen, I.M.3    Van Der Wal, A.C.4    Wilde, A.A.M.5
  • 84
    • 80052168218 scopus 로고    scopus 로고
    • Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes
    • Taylor, M., Graw, S., Sinagra, G., Barnes, C., Slavov, D., Brun, F., et al. (2011). Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation, 124(8), 876-885.
    • (2011) Circulation , vol.124 , Issue.8 , pp. 876-885
    • Taylor, M.1    Graw, S.2    Sinagra, G.3    Barnes, C.4    Slavov, D.5    Brun, F.6
  • 86
    • 0023848617 scopus 로고
    • Right ventricular cardiomyopathy and sudden death in young people
    • Thiene, G., Nava, A., Corrado, D., Rossi, L., & Pennelli, N. (1988). Right ventricular cardiomyopathy and sudden death in young people. The New England Journal of Medicine, 318, 129-133. (Pubitemid 18035134)
    • (1988) New England Journal of Medicine , vol.318 , Issue.3 , pp. 129-133
    • Thiene, G.1    Nava, A.2    Corrado, D.3    Rossi, L.4    Pennelli, N.5
  • 87
    • 0025998165 scopus 로고
    • Right ventricular cardiomyopathy: Is there evidence of an inflammatory aetiology?
    • Thiene, G., Corrado, D., Nava, A., Rossi, L., Poletti, A., Boffa, G. M., et al. (1991). Right ventricular cardiomyopathy: is there evidence of an inflammatory aetiology? European Heart Journal, 12(Suppl D), 22-25.
    • (1991) European Heart Journal , Issue.12 SUPPL. D , pp. 22-25
    • Thiene, G.1    Corrado, D.2    Nava, A.3    Rossi, L.4    Poletti, A.5    Boffa, G.M.6
  • 89
    • 54349123151 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopa-thy: A paradigm of overlapping disorders
    • Towbin, J. A. (2008). Arrhythmogenic right ventricular cardiomyopa-thy: a paradigm of overlapping disorders. Annals of Noninvasive Electrocardiology, 13(4), 325-326.
    • (2008) Annals of Noninvasive Electrocardiology , vol.13 , Issue.4 , pp. 325-326
    • Towbin, J.A.1
  • 90
    • 33646558843 scopus 로고    scopus 로고
    • Loss of desmoplakin isoform I causes early onset cardio-myopathy and heart failure in a Naxos-like syndrome
    • Uzumcu, A., Norgett, E. E., Dindar, A., Uyguner, O., Nisli, K., et al. (2006). Loss of desmoplakin isoform I causes early onset cardio-myopathy and heart failure in a Naxos-like syndrome. Journal of Medical Genetics, 43(2), 5.
    • (2006) Journal of Medical Genetics , vol.43 , Issue.2 , pp. 5
    • Uzumcu, A.1    Norgett, E.E.2    Dindar, A.3    Uyguner, O.4    Nisli, K.5
  • 92
    • 33645772930 scopus 로고    scopus 로고
    • Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • van Tintelen, J. P., Entius, M. M., Bhuiyan, Z. A., Jongbloed, R., Wiesfeld, A. C., Wilde, A. A., et al. (2006). Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation, 113(13), 1650-1658.
    • (2006) Circulation , vol.113 , Issue.13 , pp. 1650-1658
    • Van Tintelen, J.P.1    Entius, M.M.2    Bhuiyan, Z.A.3    Jongbloed, R.4    Wiesfeld, A.C.5    Wilde, A.A.6
  • 93
    • 70350474285 scopus 로고    scopus 로고
    • Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
    • van Tintelen, J. P., van Gelder, I. C., Asimaki, A., Suurmeijer, A. J., Wiesfeld, A. C., Jongbloed, J. D., et al. (2009). 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(11), 1574-1583.
    • (2009) Heart Rhythm , vol.6 , Issue.11 , pp. 1574-1583
    • Van Tintelen, J.P.1    Van Gelder, I.C.2    Asimaki, A.3    Suurmeijer, A.J.4    Wiesfeld, A.C.5    Jongbloed, J.D.6
  • 94
    • 0036348357 scopus 로고    scopus 로고
    • Genetic counselling in the era of genomic medicine-as we move towards personalised medicine, it becomes more important to help patients understand genetic tests and make complex decisions about their health
    • Weil, J. (2002). Genetic counselling in the era of genomic medicine-as we move towards personalised medicine, it becomes more important to help patients understand genetic tests and make complex decisions about their health. EMBO Reports, 3(7), 590-593.
    • (2002) EMBO Reports , vol.3 , Issue.7 , pp. 590-593
    • Weil, J.1
  • 96
    • 13244292435 scopus 로고    scopus 로고
    • Implantable cardioverter-defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: A role for genotyping in decision-making?
    • DOI 10.1016/j.jacc.2004.11.009, PII S0735109704021576
    • Wichter, T., & Breithardt, G. (2005). Implantable cardioverter-defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: a role for genotyping in decision-making? Journal of the American College of Cardiology, 45(3), 409-411. (Pubitemid 40186792)
    • (2005) Journal of the American College of Cardiology , vol.45 , Issue.3 , pp. 409-411
    • Wichter, T.1    Breithardt, G.2
  • 97
    • 0026708179 scopus 로고
    • Efficacy of antiarrhythmic drugs in patients with arrhyth-mogenic right ventricular disease. Results in patients with induc-ible and noninducible ventricular tachycardia
    • Wichter, T., Borggrefe, M., Haverkamp, W., Chen, X., & Breithardt, G. (1992). Efficacy of antiarrhythmic drugs in patients with arrhyth-mogenic right ventricular disease. Results in patients with induc-ible and noninducible ventricular tachycardia. Circulation, 86(1), 29-37.
    • (1992) Circulation , vol.86 , Issue.1 , pp. 29-37
    • Wichter, T.1    Borggrefe, M.2    Haverkamp, W.3    Chen, X.4    Breithardt, G.5


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