Gomes, J; Finlay, M; Ahmed, AK; Ciaccio, EJ; Asimaki, A; Saffitz, JE; ... Lambiase, PD; + view all Gomes, J; Finlay, M; Ahmed, AK; Ciaccio, EJ; Asimaki, A; Saffitz, JE; Quarta, G; Nobles, M; Syrris, P; Chaubey, S; McKenna, WJ; Tinker, A; Lambiase, PD; - view fewer (2012) Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. European Heart Journal , 33 (15) 1942 -1953. 10.1093/eurheartj/ehr472.
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|MS Word (Supplementary Data)|
Anecdotal observations suggest that sub-clinical electrophysiological manifestations of arrhythmogenic right ventricular cardiomyopathy (ARVC) develop before detectable structural changes ensue on cardiac imaging. To test this hypothesis, we investigated a murine model with conditional cardiac genetic deletion of one desmoplakin allele (DSP ±) and compared the findings to patients with non-diagnostic features of ARVC who carried mutations in desmoplakin.
|Title:||Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study|
|Open access status:||An open access publication. A version is also available from UCL Discovery.|
|Additional information:||Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2012. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. PMCID: PMC3409421|
|Keywords:||Adult, Aged, Animals, Arrhythmogenic right ventricular dysplasia, Case-control studies, Desmoplakins, Electrocardiography, Female, Gene deletion, Heart conduction system, Heterozygote, Humans, Immunohistochemistry, Male, Mice, Mice, Inbred C57BL, Mice, Inbred strains, Middle aged, Mutation, Reverse transcriptase polymerase chain reaction, Sodium channels, Young adult|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of)|
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
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