Gomes, J and Finlay, M and Ahmed, AK and Ciaccio, EJ and Asimaki, A and Saffitz, JE and Quarta, G and Nobles, M and Syrris, P and Chaubey, S and McKenna, WJ and Tinker, A and Lambiase, PD (2012) Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. Eur Heart J , 33 (15) 1942 - 1953. 10.1093/eurheartj/ehr472.
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|
|Additional information:||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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