Skip to main content
Top
Published in: Journal of Interventional Cardiac Electrophysiology 1/2009

01-10-2009 | Subject of the Year

Toward early diagnosis in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Author: Richard N. W. Hauer

Published in: Journal of Interventional Cardiac Electrophysiology | Issue 1/2009

Login to get access

Excerpt

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a myocardial disease which is histologically mainly localized in the right ventricle (RV) [13]. Histology shows fibrofatty replacement of the myocardium. At autopsy, diagnosis is usually straightforward. In the clinical setting, tissue is obtained by RV endomyocardial biopsies. For safety reasons, sampling is usually carried out from the interventricular septum to avoid perforation of the affected thin RV free wall. However, histologic diagnosis by endomyocardial biopsy is hampered by (1) the often focal nature of the disease, (2) only subendocardial tissue sampling, and (3) interventricular septum rarely involved in the disease process. …
Literature
1.
go back to reference 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, 384–398.PubMed 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, 384–398.PubMed
2.
go back to reference Corrado, D., Basso, C., Thiene, G., McKenna, W. J., Davies, M. J., Fontaliran, F., et al. (1997). Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multicenter study. J Am Coll Cardiol, 30, 1512–1520.PubMedCrossRef Corrado, D., Basso, C., Thiene, G., McKenna, W. J., Davies, M. J., Fontaliran, F., et al. (1997). Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: A multicenter study. J Am Coll Cardiol, 30, 1512–1520.PubMedCrossRef
3.
go back to reference Basso, C., Thiene, G., Corrado, D., Angelini, A., Nava, A., & Valente, M. (1996). Arrhythmogenic right ventricular cardiomyopathy: Dysplasia, dystrophy, or myocarditis? Circulation, 94, 983–991.PubMed Basso, C., Thiene, G., Corrado, D., Angelini, A., Nava, A., & Valente, M. (1996). Arrhythmogenic right ventricular cardiomyopathy: Dysplasia, dystrophy, or myocarditis? Circulation, 94, 983–991.PubMed
4.
go back to reference McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., et al. (1994). Diagnosis of arrhythmogenic 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, 215–218.PubMedCrossRef McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., et al. (1994). Diagnosis of arrhythmogenic 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, 215–218.PubMedCrossRef
5.
go back to reference Cox, M. G. P. J., Nelen, M. R., Wilde, A. A. M., Wiesfeld, A. C., Vd Smagt, J., Loh, P., et al. (2008). Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Toward improvement of diagnostic ECG criteria. J Cardiovasc Electrophysiol, 19, 775–781.PubMedCrossRef Cox, M. G. P. J., Nelen, M. R., Wilde, A. A. M., Wiesfeld, A. C., Vd Smagt, J., Loh, P., et al. (2008). Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Toward improvement of diagnostic ECG criteria. J Cardiovasc Electrophysiol, 19, 775–781.PubMedCrossRef
6.
go back to reference Avella, A., d'Amati, G., Pappalardo, A., Re, F., Silenzi, P. F., Laurenzi, F., et al. (2008). Diagnostic value of endomyocardial biopsy guided by electroanatomic voltage mapping in arrhythmogenic right ventricular cardiomyopathy/dysplasia. J Cardiovasc Electrophysiol, 19, 1127–1134.PubMedCrossRef Avella, A., d'Amati, G., Pappalardo, A., Re, F., Silenzi, P. F., Laurenzi, F., et al. (2008). Diagnostic value of endomyocardial biopsy guided by electroanatomic voltage mapping in arrhythmogenic right ventricular cardiomyopathy/dysplasia. J Cardiovasc Electrophysiol, 19, 1127–1134.PubMedCrossRef
7.
go back to reference Corrado, D., Basso, C., Leoni, L., Tokajuk, B., Bauce, B., Frigo, G., et al. (2005). Three-dimensional electroanatomic voltage mapping increases accuracy of diagnosing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation, 111, 3042–3050.PubMedCrossRef Corrado, D., Basso, C., Leoni, L., Tokajuk, B., Bauce, B., Frigo, G., et al. (2005). Three-dimensional electroanatomic voltage mapping increases accuracy of diagnosing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation, 111, 3042–3050.PubMedCrossRef
8.
go back to reference McKoy, G., Protonotarios, N., Crosby, A., Tsatsopoulou, A., Anastasakis, A., Coonar, A., et al. (2000). Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355, 2119–2124.PubMedCrossRef McKoy, G., Protonotarios, N., Crosby, A., Tsatsopoulou, A., Anastasakis, A., Coonar, A., et al. (2000). Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355, 2119–2124.PubMedCrossRef
9.
go back to reference Rampazzo, A., Nava, A., Malacrida, S., Beffagna, G., Bauce, B., Rossi, V., et al. (2002). Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. American Journal of Human Genetics, 71, 1200–1206.PubMedCrossRef Rampazzo, A., Nava, A., Malacrida, S., Beffagna, G., Bauce, B., Rossi, V., et al. (2002). Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. American Journal of Human Genetics, 71, 1200–1206.PubMedCrossRef
10.
go back to reference Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., et al. (2004). Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nature Genetics, 36, 1162–1164.PubMedCrossRef Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., et al. (2004). Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nature Genetics, 36, 1162–1164.PubMedCrossRef
11.
go back to reference 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, 1171–1179.PubMedCrossRef 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, 1171–1179.PubMedCrossRef
12.
go back to reference 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, 978–984.PubMedCrossRef 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, 978–984.PubMedCrossRef
13.
go back to reference Basso, C., Czarnowska, E., Della Barbera, M., Bauce, B., Beffagna, G., Wlodarska, E. K., et al. (2006). Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: An electron microscopy investigation on endomyocardial biopsies. European Heart Journal, 27, 1847–1854.PubMedCrossRef Basso, C., Czarnowska, E., Della Barbera, M., Bauce, B., Beffagna, G., Wlodarska, E. K., et al. (2006). Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: An electron microscopy investigation on endomyocardial biopsies. European Heart Journal, 27, 1847–1854.PubMedCrossRef
14.
go back to reference Saffitz, J. E. (2005). Dependence of electrical coupling on mechanical coupling in cardiac myocytes: Insights gained from cardiomyopathies caused by defects in cell-cell connections. Annals of the New York Academy of Sciences, 1047, 336–344.PubMedCrossRef Saffitz, J. E. (2005). Dependence of electrical coupling on mechanical coupling in cardiac myocytes: Insights gained from cardiomyopathies caused by defects in cell-cell connections. Annals of the New York Academy of Sciences, 1047, 336–344.PubMedCrossRef
15.
go back to reference Oxford, E. M., Musa, H., Maass, K., Coombs, W., Taffet, S. M., & Delmar, M. (2007). Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells. Circ Res, 101(7), 703–711.PubMedCrossRef Oxford, E. M., Musa, H., Maass, K., Coombs, W., Taffet, S. M., & Delmar, M. (2007). Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells. Circ Res, 101(7), 703–711.PubMedCrossRef
16.
go back to reference Hauer, R. N. W., & Cox, M. G. P. J. (2008). The challenge of early diagnosis in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol, 19, 1135–1136.PubMedCrossRef Hauer, R. N. W., & Cox, M. G. P. J. (2008). The challenge of early diagnosis in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol, 19, 1135–1136.PubMedCrossRef
17.
go back to reference Asimaki, A., Tandri, H., Huang, H., Halushka, M. K., Gautam, S., Basso, C., et al. (2009). A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med, 360, 1075–1084.PubMedCrossRef Asimaki, A., Tandri, H., Huang, H., Halushka, M. K., Gautam, S., Basso, C., et al. (2009). A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med, 360, 1075–1084.PubMedCrossRef
Metadata
Title
Toward early diagnosis in arrhythmogenic right ventricular dysplasia/cardiomyopathy
Author
Richard N. W. Hauer
Publication date
01-10-2009
Publisher
Springer US
Published in
Journal of Interventional Cardiac Electrophysiology / Issue 1/2009
Print ISSN: 1383-875X
Electronic ISSN: 1572-8595
DOI
https://doi.org/10.1007/s10840-009-9420-9

Other articles of this Issue 1/2009

Journal of Interventional Cardiac Electrophysiology 1/2009 Go to the issue