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Select item 98156421.

Epicardial conduction abnormalities in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and mutation positive healthy family members – A study using electrocardiographic imaging

Varvara Kommata, Elena Sciaraffia, Carina Blomström-Lundqvist

PLoS One. 2023; 18(1): e0280111. Published online 2023 Jan 5. doi: 10.1371/journal.pone.0280111

PMCID:: PMC9815642

Article PDF–812K

Select item 97701402.

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population

Mimount Bourfiss, Marion van Vugt, Abdulrahman I. Alasiri, Bram Ruijsink, Jessica van Setten, A. Floriaan Schmidt, Dennis Dooijes, Esther Puyol-Antón, Birgitta K. Velthuis, J. Peter van Tintelen, Anneline S.J.M. te Riele, Annette F. Baas, Folkert W. Asselbergs

Circ Genom Precis Med. 2022 Dec; 15(6): e003704. Published online 2022 Oct 20. doi: 10.1161/CIRCGEN.122.003704

PMCID:: PMC9770140

Article PDF–849K

Select item 97120253.

Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy

Marit Kristine Smedsrud, Monica Chivulescu, Marianne Inngjerdingen Forså, Isotta Castrini, Eivind Westrum Aabel, Christine Rootwelt-Norberg, Martin Prøven Bogsrud, Thor Edvardsen, Nina Eide Hasselberg, Andreas Früh, Kristina Hermann Haugaa

Eur Heart J. 2022 Dec 1; 43(45): 4694–4703. Published online 2022 Aug 29. doi: 10.1093/eurheartj/ehac485

PMCID:: PMC9712025

Article PDF–706K

Select item 93926524.

Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

Alexandros Protonotarios, Riccardo Bariani, Chiara Cappelletto, Menelaos Pavlou, Alba García-García, Alberto Cipriani, Ioannis Protonotarios, Adrian Rivas, Regitze Wittenberg, Maddalena Graziosi, Zafeirenia Xylouri, José M Larrañaga-Moreira, Antonio de Luca, Rudy Celeghin, Kalliopi Pilichou, Athanasios Bakalakos, Luis Rocha Lopes, Konstantinos Savvatis, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Cristina Basso, Javier Limeres Freire, Jose F Rodriguez-Palomares, Toru Kubo, Tomas Ripoll-Vera, Roberto Barriales-Villa, Loizos Antoniades, Jens Mogensen, Pablo Garcia-Pavia, Karim Wahbi, Elena Biagini, Aris Anastasakis, Adalena Tsatsopoulou, Esther Zorio, Juan R Gimeno, Jose Manuel Garcia-Pinilla, Petros Syrris, Gianfranco Sinagra, Barbara Bauce, Perry M Elliott

Eur Heart J. 2022 Aug 21; 43(32): 3053–3067. Published online 2022 Jun 29. doi: 10.1093/eurheartj/ehac235

Correction in:: Eur Heart J. 2022 Nov 1; 43(41): 4373.

PMCID:: PMC9392652

Article PDF–2.6M

Select item 91332205.

Progressive Reduction in Right Ventricular Contractile Function Due to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy

Emmanuel M. Camors, Alyson H. Roth, Joseph R. Alef, Ryan D. Sullivan, Jason N. Johnson, Enkhsaikhan Purevjav, Jeffrey A. Towbin

Circulation. Author manuscript; available in PMC 2023 May 24.

Published in final edited form as: Circulation. 2022 May 24; 145(21): 1609–1624. Published online 2022 Apr 19. doi: 10.1161/CIRCULATIONAHA.120.049261

PMCID:: PMC9133220

Article PDF–1.9M

Select item 90217776.

Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy

Maddalena Graziosi, Raffaello Ditaranto, Claudio Rapezzi, Ferdinando Pasquale, Luigi Lovato, Ornella Leone, Vanda Parisi, Luciano Potena, Valentina Ferrara, Matteo Minnucci, Angelo Giuseppe Caponetti, Chiara Chiti, Alessandra Ferlini, Francesca Gualandi, Cesare Rossi, Alessandra Berardini, Giacomo Tini, Matteo Bertini, Matteo Ziacchi, Mauro Biffi, Nazzareno Galie, Iacopo Olivotto, Elena Biagini

Open Heart. 2022; 9(1): e001914. Published online 2022 Apr 20. doi: 10.1136/openhrt-2021-001914

PMCID:: PMC9021777

Article PDF–1.8M

Select item 82843617.

Alice Ghidoni, Perry M. Elliott, Petros Syrris, Hugh Calkins, Cynthia A. James, Daniel P. Judge, Brittney Murray, Julien Barc, Vincent Probst, Jean Jacques Schott, Jiang-Ping Song, Richard N.W. Hauer, Edgar T. Hoorntje, J. Peter van Tintelen, Eric Schulze-Bahr, Robert M. Hamilton, Kirti Mittal, Christopher Semsarian, Elijah R. Behr, Michael J. Ackerman, Cristina Basso, Gianfranco Parati, Davide Gentilini, Maria-Christina Kotta, Bongani M. Mayosi, Peter J. Schwartz, Lia Crotti

Circ Genom Precis Med. 2021 Apr; 14(2): e003097. Published online 2021 Feb 10. doi: 10.1161/CIRCGEN.120.003097

PMCID:: PMC8284361

Article PDF–501K

Select item 82552648.

Cardiac magnetic resonance in patients with ARVC and family members: the potential role of native T1 mapping

Georgios Georgiopoulos, Mattia Zampieri, Silvia Molaro, Anna Chaloupka, Alberto Aimo, Barbara Barra, Leema Roberts, Laura Monje-Garcia, Colin Evans, Nabeel Sheikh, Rachel Bastiaenen, Michael Cooklin, Pier-Giorgio Masci, Gerald Carr-White, Gherardo Finocchiaro, Amedeo Chiribiri

Int J Cardiovasc Imaging. 2021; 37(6): 2037–2047. Published online 2021 Feb 7. doi: 10.1007/s10554-021-02166-7

PMCID:: PMC8255264

Article PDF–855K

Select item 81842279.

‘Hot phase’ clinical presentation in arrhythmogenic cardiomyopathy

Riccardo Bariani, Alberto Cipriani, Stefania Rizzo, Rudy Celeghin, Maria Bueno Marinas, Benedetta Giorgi, Monica De Gaspari, Ilaria Rigato, Loira Leoni, Alessandro Zorzi, Manuel De Lazzari, Alessandra Rampazzo, Sabino Iliceto, Gaetano Thiene, Domenico Corrado, Kalliopi Pilichou, Cristina Basso, Martina Perazzolo Marra, Barbara Bauce

Europace. 2021 Jun; 23(6): 907–917. Published online 2020 Dec 13. doi: 10.1093/europace/euaa343

PMCID:: PMC8184227

Article PDF–748K

Select item 728846010.

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

Giuseppe Limongelli, Marcella Nunziato, Cristina Mazzaccara, Mariano Intrieri, Valeria D’Argenio, Maria Valeria Esposito, Emanuele Monda, Federica Di Maggio, Giulia Frisso, Francesco Salvatore

Genes (Basel) 2020 May; 11(5): 524. Published online 2020 May 8. doi: 10.3390/genes11050524

PMCID:: PMC7288460

Article PDF–2.4M

Select item 699504211.

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo

BMC Med Genet. 2020; 21: 19. Published online 2020 Jan 31. doi: 10.1186/s12881-020-0955-z

PMCID:: PMC6995042

Article PDF–960K

Select item 603402212.

Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation

Muzaffar Ali, Imtiyaz A. Bhat, Imran Hafeez, Mohd Iqbal Dar, Jahangir Rashid Beig, Zafar Amin Shah, Khurshid Iqbal

Indian Heart J. 2018 May-Jun; 70(3): 421–426. Published online 2017 Oct 20. doi: 10.1016/j.ihj.2017.10.010

PMCID:: PMC6034022

Article PDF–2.2M

Select item 584156213.

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy

Alexandros Protonotarios, Aris Anastasakis, Demosthenes B. Panagiotakos, Loizos Antoniades, Petros Syrris, Apostolos Vouliotis, Christodoulos Stefanadis, Adalena Tsatsopoulou, William J. McKenna, Nikos Protonotarios

Europace. 2016 Apr; 18(4): 610–616. Published online 2015 Mar 29. doi: 10.1093/europace/euv061

PMCID:: PMC5841562

Article PDF–229K

Select item 438022114.

The Yield of Serial Evaluation in At-Risk Family Members of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients

Anneline S.J.M. te Riele, Cynthia A. James, Neda Rastegar, Aditya Bhonsale, Brittney Murray, Crystal Tichnell, Daniel P. Judge, David A. Bluemke, Stefan L. Zimmerman, Ihab R. Kamel, Hugh Calkins, Harikrishna Tandri

J Am Coll Cardiol. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: J Am Coll Cardiol. 2014 Jul 22; 64(3): 293–301. doi: 10.1016/j.jacc.2014.04.044

PMCID:: PMC4380221

Article PDF–513K

Select item 427853115.

Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members

Jørg Saberniak, Nina E Hasselberg, Rasmus Borgquist, Pyotr G Platonov, Sebastian I Sarvari, Hans-Jørgen Smith, Margareth Ribe, Anders G Holst, Thor Edvardsen, Kristina H Haugaa

Eur J Heart Fail. 2014 Dec; 16(12): 1337–1344. Published online 2014 Oct 16. doi: 10.1002/ejhf.181

PMCID:: PMC4278531

Article PDF–236K

Select item 418968216.

Biventricular myocardial strain analysis in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) using cardiovascular magnetic resonance feature tracking

Philipp Heermann, Dennis M Hedderich, Matthias Paul, Christoph Schülke, Jan Robert Kroeger, Bettina Baeßler, Thomas Wichter, David Maintz, Johannes Waltenberger, Walter Heindel, Alexander C Bunck

J Cardiovasc Magn Reson. 2014; 16(1): 75. Published online 2014 Oct 7. doi: 10.1186/s12968-014-0075-z

PMCID:: PMC4189682

Article PDF–2.4M

Select item 379884417.

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

Ilena Egle Astrid Li Mura, Barbara Bauce, Andrea Nava, Manuela Fanciulli, Giovanni Vazza, Elisa Mazzotti, Ilaria Rigato, Marzia De Bortoli, Giorgia Beffagna, Alessandra Lorenzon, Martina Calore, Emanuela Dazzo, Carlo Nobile, Maria Luisa Mostacciuolo, Domenico Corrado, Cristina Basso, Luciano Daliento, Gaetano Thiene, Alessandra Rampazzo

Eur J Hum Genet. 2013 Nov; 21(11): 1226–1231. Published online 2013 Mar 13. doi: 10.1038/ejhg.2013.39

PMCID:: PMC3798844

Article PDF–1.3M

Select item 347543418.

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

Paul A. van der Zwaag, Ingrid A.W. van Rijsingen, Angeliki Asimaki, Jan D.H. Jongbloed, Dirk J. van Veldhuisen, Ans C.P. Wiesfeld, Moniek G.P.J. Cox, Laura T. van Lochem, Rudolf A. de Boer, Robert M.W. Hofstra, Imke Christiaans, Karin Y. van Spaendonck-Zwarts, Ronald H. Lekanne dit Deprez, Daniel P. Judge, Hugh Calkins, Albert J.H. Suurmeijer, Richard N.W. Hauer, Jeffrey E. Saffitz, Arthur A.M. Wilde, Maarten P. van den Berg, J. Peter van Tintelen

Eur J Heart Fail. 2012 Nov; 14(11): 1199–1207. Published online 2012 Jul 20. doi: 10.1093/eurjhf/hfs119

PMCID:: PMC3475434

Article PDF–258K

Select item 335224819.

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

Revathi Rajkumar, John C Sembrat, Barbara McDonough, Christine E Seidman, Ferhaan Ahmad

BMC Med Genet. 2012; 13: 21. Published online 2012 Mar 29. doi: 10.1186/1471-2350-13-21

PMCID:: PMC3352248

Article PDF–497K

Select item 320518320.

Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations

Barbara Bauce, Alessandra Rampazzo, Cristina Basso, Elisa Mazzotti, Ilaria Rigato, Alexandros Steriotis, Giorgia Beffagna, Alessandra Lorenzon, Marzia De Bortoli, Kalliopi Pilichou, Martina Perazzolo Marra, Francesco Corbetti, Luciano Daliento, Sabino Iliceto, Domenico Corrado, Gaetano Thiene, Andrea Nava

Heart Rhythm. 2011 Nov; 8(11): 1686–1695. doi: 10.1016/j.hrthm.2011.06.026

PMCID:: PMC3205183

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