WJCD  Vol.5 No.8 , August 2015
Arrhythmogenic Ventricular Dysplasia/Cardiomyopathy: Insights from the Rationale of Disease Nomenclature and Clinical Perspectives
ABSTRACT
“Arrhythmogenic right ventricular dysplasia” (ARVD), a heart muscle disorder characterized by the presence of fibro-fatty tissue and ventricular electrical vulnerability related to sudden death, was first described in 1977 by a French team. Since then, other terms such as “arrhythmogenic right ventricular cardiomyopathy” (ARVC), “arrhythmogenic cardiomyopathy” (AC), “left-dominant arrhythmogenic cardiomyopathy” (LDAC), and “arrhythmogenic left ventricular dysplasia” (ALVD) have been introduced. These changes in nomenclature of the same disease entity are based on different explanations of pathomorphologic patterns. The dysplasia theory claims cardiac growth “maldevelopment” whereas the cardiomyopathy has been seen as an atrophy from acquired injury (myocyte death) and repair (fibrofatty replacement). The other area of divergent opinion is with regards to involvement of both ventricles rather than being an isolated right ventricular anomaly that may result in increased likelihood of diagnosing the concealed form manifesting with pre-dominant left ventricular arrhythmias. Multiple line of evidences support common disease path-ways: Presence of fibro-fatty and superimposed myocarditis, desmosome mutations and malfunc-tion. These compelling data regarding the heart growth, and pathological, clinical, phenotype/ genotype correlates have advanced our understanding of arrhythmogenic ventricular dysplasia/ cardiomyopathy and increased the diagnostic accuracy as well as providing an avenue for future development of new mechanism-based therapies.

Cite this paper
Bonny, A. , Talle, M. , Fontaine, G. (2015) Arrhythmogenic Ventricular Dysplasia/Cardiomyopathy: Insights from the Rationale of Disease Nomenclature and Clinical Perspectives. World Journal of Cardiovascular Diseases, 5, 218-226. doi: 10.4236/wjcd.2015.58025.
References
[1]   Fontaine, G. and Chen, V. (2014) Arrhythmogenic Right Ventricular Dysplasia Back in Force. American Journal of Cardiology, 113, 1735-1739.
http://dx.doi.org/10.1016/j.amjcard.2014.03.001

[2]   Calkins, H. (2015) Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. The Three Decades of Progress. Circulation Journal, 79, 901-913.
http://dx.doi.org/10.1253/circj.CJ-15-0288

[3]   Fontaine, G., Guiraudon, G., Frank, R., Vedel, J., Grosgogeat, Y., Cabrol, C., et al. (1977) Stimulation Studies and Epicardial Mapping in Ventricular Tachycardia: Study of Mechanisms and Selection for Surgery. In: Kulbertus, H.E., Ed., Reentrant Arrhythmias, MTP Pub, Lancaster, 334-350.

[4]   Fontaine, G., Guiraudon, G. and Frank, R. (1978) Intramyocardial Conduction Defects in Patients Prone to Ventricular Tachycardia. I—The Postexcitation Syndrome in Sinus Rhythm p39e55, II—A Dynamic Study of the Postexcitation Syndrome p56-66, III—The Post-Excitation Syndrome during Ventricular Tachycardia. In: Sandoe, E., Julian, D.G., Bell, J.W., Eds., Management of Ventricular Tachycardia, Role of Mexiletine, Excerpta Medica Pub, Amsterdam, 67- 79.

[5]   Marcus, F.I., Fontaine, G., Guiraudon, G., Frank, R., Laurenceau, J.L., Malergue, M.C., et al. (1982) Right Ventricular Dysplasia: A Report of 24 Cases. Circulation, 65, 384-399.
http://dx.doi.org/10.1161/01.CIR.65.2.384

[6]   Thiene, G., Nava, A., Corrado, D., Rossi, L. and Pennelli, N. (1988) Right Ventricular Cardiomyopathy and Sudden Death in Young People. New England Journal of Medicine, 318, 129-133.
http://dx.doi.org/10.1056/NEJM198801213180301

[7]   Corrado, D., Thiene, G., Nava, A., Rossi, L. and Pennelli, N. (1990) Sudden Death in Young Competitive Athletes: Clinicopathologic Correlation in 22 Cases. American Journal of Medicine, 89, 588-596.
http://dx.doi.org/10.1016/0002-9343(90)90176-E

[8]   Nava, A., Thiene, G., Canciani, B., et al. (1992) Clinical Profile of Concealed form of Arrhythmogenic Right Ventricular Cardiomyopathy Presenting with Apparently Idiopathic Ventricular Arrhythmias. International Journal of Cardiology, 35, 195-206.
http://dx.doi.org/10.1016/0167-5273(92)90177-5

[9]   Nava, A., Thiene, G., Canciani, B., et al. (1988) Familial Occurrence of Right Ventricular Dysplasia: A Study Involving Nine Families. Journal of the American College of Cardiology, 12, 1222-1228.
http://dx.doi.org/10.1016/0735-1097(88)92603-4

[10]   Sen-Chowdhry, S., Syrris, P., Ward, D., Asimaki, A., Sevdalis, E. and McKenna, W.J. (2007) Clinical and Genetic Characterization of Families with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Provides Novel Insights into Patterns of Disease Expression. Circulation, 115, 1710-1720.
http://dx.doi.org/10.1161/CIRCULATIONAHA.106.660241

[11]   Sen-Chowdhry, S., Syrris, P., Prasad, S.K., Hughes, S.E., Merrifield, R., Ward, D., Pennell, D.J. and McKenna, W.J. (2008) Left-Dominant Arrhythmogenic Cardiomyopathy: An Under-Recognized Clinical Entity. Journal of the American College of Cardiology, 52, 2175-2187.
http://dx.doi.org/10.1016/j.jacc.2008.09.019

[12]   Lopez-Ayala, J.M., Pastor-Quirante, F., Gonzalez-Carrillo, J., Lopez-Cuenca, D., Sanchez-Munoz, J.J., Oliva-Sandoval, M.J. and Gimeno, J.R. (2015) Genetics of Myocarditis in Arrhythmogenic Right Ventricular Dysplasia. Heart Rhythm, 12, 766-773.
http://dx.doi.org/10.1016/j.hrthm.2015.01.001

[13]   McKenna, W.J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., et al. (1994) Diagnosis of Arrhythmogenic Right Ventricular Dyspla-sia/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. British Heart Journal, 71, 215-218.
http://dx.doi.org/10.1136/hrt.71.3.215

[14]   Marcus, F.I., McKenna, W.J., Sherrill, D., Basso, C., Bauce, B., Bluemke, D.A., et al. (201o) Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria. Circulation, 121, 1533-1541.
http://dx.doi.org/10.1161/CIRCULATIONAHA.108.840827

[15]   Frank, R., Fontaine, G., Vedel, J., Mialet, G., Sol, C., Guiraudon, G., et al. (1978) Electrocardiologie de quatre cas de dysplasie ventriculaire droite arythmogene. Archives des Maladies du Coeur, 71, 963-972.

[16]   Osler, W.M. (1905) The Principles and Practice of Medicine. 6th edition, D’Appleton & Co., New York, 820.

[17]   Castleman, B. and Towne, V.W. (1952) Presentation of Case 38201. The New England Journal of Medicine, 246, 785- 790.
http://dx.doi.org/10.1056/NEJM195205152462007

[18]   Vecht, R.J., Carmichael, J.S., Gopal, R. and Philip, G. (1979) Uhl’s anomaly. British Heart Journal, 41, 676-682.
http://dx.doi.org/10.1136/hrt.41.6.676

[19]   James, T.N., Nichols, M.M., Sapire, D.W., DiPatre, P.L. and Lopez, S.M. (1996) Complete Heart Block and Fatal Right Ventricular Failure in an Infant. Circulation, 93, 1588-1600.
http://dx.doi.org/10.1161/01.CIR.93.8.1588

[20]   Mollova, M., Bersell, K., Walsh, S., Savla, J., Das, L.T., et al. (2013) Cardiomyocyte Proliferation Contributes to Heart Growth in Young Humans. Proceedings of the National Academy of Sciences of the United States of America, 110, 1446-1451.
http://dx.doi.org/10.1073/pnas.1214608110

[21]   Roberts, J.T. and Wearn, J.T. (1941) Cell Proliferation during Cardiac Growth. American Journal of Cardiology, 21, 617-633.

[22]   Basso, C., Corrado, D., Marcus, F.I., Nava, A. and Thiene, G. (2009) Arrhythmogenic Right Ventricular Cardiomyopathy. The Lancet, 373, 1289-1300.
http://dx.doi.org/10.1016/S0140-6736(09)60256-7

[23]   Basso, C., Thiene, G., Corrado, D., Angelini, A., Nava, A. and Valente, M. (1996) Arrhythmogenic Right Ventricular Cardiomyopathy: Dysplasia, Dystrophy or Myocarditis? Circulation, 94, 983-991.
http://dx.doi.org/10.1161/01.CIR.94.5.983

[24]   Thiene, G. and Basso, C. (2001) Arrhythmogenic Right Ventricular Cardiomyopathy. An Update. Cardiovascular Pathology, 10, 109-111.
http://dx.doi.org/10.1016/S1054-8807(01)00067-9

[25]   Corrado, D., Basso, C., Thiene, G., et al. (1997) Spectrum of Clinicopathologic Manifestations of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: A Multicenter Study. Journal of the American College of Cardiology, 30, 1512-1520.
http://dx.doi.org/10.1016/S0735-1097(97)00332-X

[26]   Groeneweg, J.A. and Hauer, R.N. (2012) Noninvasive Parameters for Evaluation of Activation Delay in Arrhythmogenic Cardiomyopathy. Circulation: Arrhythmia and Electrophysiology, 5, 453-455.
http://dx.doi.org/10.1161/CIRCEP.112.971895

[27]   Panidis, I.P., Greenspan, A.M., Mintz, G.S. and Ross, J. (1985) Inducible Ventricular Fibrillation in Arrhythmogenic Right Ventricular Dysplasia. American Heart Journal, 110, 1067-1069.
http://dx.doi.org/10.1016/0002-8703(85)90213-3

[28]   De Bakker, J.M., van Capelle, F.J., Janse, M.J., Wilde, A.A., Coronel, R., Becker, A.E., et al. (1988) Reentry as a Cause of Ventricular Tachycardia in Patients with Chronic Ischemic Heart Disease: Electrophysiologic and Anatomic Correlation. Circulation, 77, 589-606.
http://dx.doi.org/10.1161/01.CIR.77.3.589

[29]   James, T.N. (1994) Normal and Abnormal Consequences of Apoptosis in the Human Heart: From Postnatal Morphogenesis to Paroxysmal Arrhythmias. Circulation, 90, 556-573.
http://dx.doi.org/10.1161/01.CIR.90.1.556

[30]   Tamaru, Y., Miyawaki, T., Iwai, K., Tsuji, T., Nibu, R., Yachie, A., et al. (1993) Absence of Bcl-2 Expression by Activated CD45RO+T Lymphocytes in Acute Infectious Mononucleosis Supporting Their Susceptibility to Programmed Cell Death. Blood, 82, 521-527.

[31]   Mallat, Z., Tedjui, A., Fontaliran, F., Frank, R., Durigon, M. and Fontaine, G. (1996) Evidence of Apoptosis in Arrhy- thmogenic Right Ventricular Dysplasia. The New England Journal of Medicine, 335, 1190-1196.
http://dx.doi.org/10.1056/NEJM199610173351604

[32]   Sen-Chowdhry, S. and McKenna, W.J. (2010) Reconciling the Protean Manifestations of Arrhythmogenic Cardiomy- opathy. Circulation: Arrhythmia and Electrophysiology, 3, 566-570.
http://dx.doi.org/10.1161/CIRCEP.110.960237

[33]   Asimaki, A., Tandri, H., Huang, H., Halushka, M.K., Gautam, S., Basso, C., Thiene, G., Tsatsopoulou, A., Protonotarios, N., McKenna, W.J., Calkins, H. and Saffitz, J.E. (2009) A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy. The New England Journal of Medicine, 360, 1075-1084.
http://dx.doi.org/10.1056/NEJMoa0808138

[34]   Kaplan, S.R., Gard, J.J., Protonotarios, N., Tsatsopoulou, A., Spiliopoulou, C., Anastasakis, A., Squarcioni, C.P., McKenna, W.J., Thiene, G., Basso, C., Brousse, N., Fontaine, G. and Saffitz, J.E. (2004) Remodeling of Myocyte Gap Junctions in Arrhythmogenic Right Ventricular Cardiomyopathy Due to a Deletion in Plakoglobin (Naxos Disease). Heart Rhythm, 1, 3-11.
http://dx.doi.org/10.1016/j.hrthm.2004.01.001

[35]   Cox, M.G., van der Zwaag, P.A., van der Werf, C., van der Smagt, J.J., Noorman, M., Bhuiyan, Z.A., Wiesfeld, A.C., Volders, P.G., van Langen, I.M., Atsma, D.E., Dooijes, D., van den Wijngaard, A., Houweling, A.C., Jongbloed, J.D., Jordaens, L., Cramer, M.J., Doevendans, P.A., de Bakker, J.M., Wilde, A.A., van Tintelen, J.P. and Hauer, R.N. (2011) 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, 2690-2700.
http://dx.doi.org/10.1161/CIRCULATIONAHA.110.988287

[36]   De Bakker, J.M., van Capelle, F.J., Janse, M.J., Tasseron, S., Vermeulen, J.T., de Jonge, N. and Lahpor, J.R. (1993) Slow Conduction in the Infarcted Human Heart. “Zig-zag” Course of Activation. Circulation, 88, 915-926.
http://dx.doi.org/10.1161/01.CIR.88.3.915

[37]   Cabo, C., Pertsov, A.M., Baxter, W.T., Davidenko, J.M., Gray, R.A. and Jalife, J. (1994) Wave-Front Curvature as a Cause of Slow Conduction and Block in Isolated Cardiac Muscle. Circulation Research, 75, 1014-1028.
http://dx.doi.org/10.1161/01.RES.75.6.1014

[38]   Fast, V.G. and Kléber, A.G. (1997) Role of Wavefront Curvature in Propagation of Cardiac Impulse. Cardiovascular Research, 33, 258-271.
http://dx.doi.org/10.1016/S0008-6363(96)00216-7

[39]   Onay-Besikci, A. (2006) Regulation of Cardiac Energy Metabolism in Newborn. Molecular and Cellular Biochemistry, 287, 1-11.
http://dx.doi.org/10.1007/s11010-006-9123-9

[40]   Lopaschuk, G.D., Ussher, J.R., Folmes, C.D., Jaswal, J.S. and Stanley, W.C. (2010) Myocardial Fatty Acid Metabolism in Health and Disease. Physiological Reviews, 90, 207-258.
http://dx.doi.org/10.1152/physrev.00015.2009

[41]   Kim, C., Wong, J., Wen, J., Wang, S., Wang, C., Spiering, S., Kan, N.G., Forcales, S., Puri, P.L., Leone, T.C., Marine, J.E., Calkins, H., Kelly, D.P., Judge, D.P. and Chen, HS. (2013) Studying Arrhythmogenic Right Ventricular Dysplasia with Patient-Specific iPSCs. Nature, 494, 105-110.
http://dx.doi.org/10.1038/nature11799

[42]   Asimaki, A. and Saffitz, J.E. (2012) Gap Junctions and Arrhythmogenic Cardiomyopathy. Heart Rhythm, 9, 992-995.
http://dx.doi.org/10.1016/j.hrthm.2011.11.024

[43]   Asimaki, A., Kapoor, S., Plovie, E., Karin Arndt, A., Adams, E., Liu, Z., James, C.A., Judge, D.P., Calkins, H., Churko, J., Wu, J.C., MacRae, C.A., Kléber, A.G. and Saffitz, J.E. (2014) Identification of a New Modulator of the Intercalated Disc in a Zebrafish Model of Arrhythmogenic Cardiomyopathy. Science Translational Medicine, 6, 240-274.
http://dx.doi.org/10.1126/scitranslmed.3008008

[44]   Delisle, B.P., Anson, B.D., Rajamani, S. and January, C.T. (2004) Biology of Cardiac Arrhythmias: Ion Channel Protein Trafficking. Circulation Research, 94, 1418-1428.
http://dx.doi.org/10.1161/01.RES.0000128561.28701.ea

[45]   Fontaine, G.H., Andreoletti, L. and Redheuil, A. (2015) Genetics of Myocarditis in Cardiomyopathies. Heart Rhythm, 12, 774-775.
http://dx.doi.org/10.1016/j.hrthm.2015.02.011

[46]   Bowles, N.E., Ni, J., Marcus, F. and Towbin, J.A. (2002) The Detection of Cardiotropic Viruses in the Myocardium of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Journal of the American College of Cardiology, 39, 892-895.
http://dx.doi.org/10.1016/S0735-1097(02)01688-1

[47]   Bonny, A., Lellouche, N., Ditah, I., Hidden-Lucet, F., Yitemben, M.T., Granger, B., Larrazet, F., Frank, R. and Fontaine, G. (2010) C-Reactive Protein in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and Relationship with Ventricular Tachycardia. Cardiology Research and Practice, 2010, Article ID: 919783.
http://dx.doi.org/10.4061/2010/919783

 
 
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