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Title: | An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia | Authors: | Ng, Kevin Titus, Erron W Lieve, Krystien V Roston, Thomas M Mazzanti, Andrea Deiter, Frederick H Denjoy, Isabelle Ingles, Jodie Till, Jan Robyns, Tomas Connors, Sean P Steinberg, Christian Abrams, Dominic J Pang, Benjamin Scheinman, Melvin M Bos, J Martijn Duffett, Stephen A van der Werf, Christian Maltret, Alice Green, Martin S Rutberg, Julie Balaji, Seshadri Cadrin-Tourigny, Julia Orland, Kate M Knight, Linda M Brateng, Caitlin Wu, Jeremy Tang, Anthony S Skanes, Allan C Manlucu, Jaimie Healey, Jeff S January, Craig T Krahn, Andrew D Collins, Kathryn K Maginot, Kathleen R Fischbach, Peter Etheridge, Susan P Eckhardt, Lee L Hamilton, Robert M Ackerman, Michael J Noguer, Ferran Rosés I Semsarian, Christopher Jura, Natalia Leenhardt, Antoine Gollob, Michael H Priori, Silvia G Sanatani, Shubhayan Wilde, Arthur A M Deo, Rahul C Roberts, Jason D |
Issue Date: | 2020 | Source: | Ng, K., Titus, E. W., Lieve, K. V., Roston, T. M., Mazzanti, A., Deiter, F. H., Denjoy, I., Ingles, J., Till, J., Robyns, T., Connors, S. P., Steinberg, C., Abrams, D. J., Pang, B., Scheinman, M. M., Bos, J. M., Duffett, S. A., van der Werf, C., Maltret, A., Green, M. S., … Roberts, J. D. (2020). An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation, 142(10), 932–947. https://doi.org/10.1161/CIRCULATIONAHA.120.045723 | Journal: | Circulation | Abstract: | Genetic variants in calsequestrin-2 (CASQ2) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of CASQ2-CPVT was sought through an international multicenter collaboration. | Description: | Cairns & Hinterland Hospital and Health Service (CHHHS) affiliated author: Kevin Ng | DOI: | 10.1161/CIRCULATIONAHA.120.045723 | Keywords: | arrhythmias, cardiac;catecholaminergic polymorphic ventricular tachycardia;death, sudden, cardiac;genetics | Type: | Article |
Appears in Sites: | Cairns & Hinterland HHS Publications Queensland Health Publications |
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