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Items: 1 to 20 of 118

1.
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
ArticlePubReaderPDF–706KCite
2.
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy
Amrit S. Lota, Mark R. Hazebroek, Pantazis Theotokis, Rebecca Wassall, Sara Salmi, Brian P. Halliday, Upasana Tayal, Job Verdonschot, Devendra Meena, Ruth Owen, Antonio de Marvao, Alma Iacob, Momina Yazdani, Daniel J. Hammersley, Richard E. Jones, Riccardo Wage, Rachel Buchan, Fredrik Vivian, Yakeen Hafouda, Michela Noseda, John Gregson, Tarun Mittal, Joyce Wong, Jan Lukas Robertus, A. John Baksi, Vassilios Vassiliou, Ioanna Tzoulaki, Antonis Pantazis, John G.F. Cleland, Paul J.R. Barton, Stuart A. Cook, Dudley J. Pennell, Pablo Garcia-Pavia, Leslie T. Cooper, Jr, Stephane Heymans, James S. Ware, Sanjay K. Prasad
Circulation. 2022 Oct 11; 146(15): 1123–1134. Published online 2022 Sep 26. doi: 10.1161/CIRCULATIONAHA.121.058457
PMCID:
PMC9555763
ArticlePubReaderPDF–788KCite
3.
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
ArticlePubReaderPDF–2.6MCite
4.
A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5
Nora Klinke, Heiko Meyer, Sandra Ratnavadivel, Marcel Reinhardt, Jürgen J. Heinisch, Anders Malmendal, Hendrik Milting, Achim Paululat
Cell Mol Life Sci. 2022; 79(8): 444. Published online 2022 Jul 22. doi: 10.1007/s00018-022-04458-0
PMCID:
PMC9307560
ArticlePubReaderPDF–4.3MCite
5.
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome
Emily Smith, Paul D. Thompson, Carolyn Burke‐Martindale, Adaya Weissler‐Snir
J Am Heart Assoc. 2022 May 3; 11(9): e024501. Published online 2022 Apr 26. doi: 10.1161/JAHA.121.024501
PMCID:
PMC9238612
ArticlePubReaderPDF–668KCite
6.
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants
Eric D. Carruth, Dominik Beer, Amro Alsaid, Marci L.B. Schwartz, Megan McMinn, Melissa A. Kelly, Adam H. Buchanan, Christopher D. Nevius, Hugh Calkins, Cynthia A. James, Brittney Murray, Crystal Tichnell, Martin E. Matsumura, H. Lester Kirchner, Brandon K. Fornwalt, Amy C. Sturm, Christopher M. Haggerty
Circ Genom Precis Med. 2021 Apr; 14(2): e003302. Published online 2021 Apr 19. doi: 10.1161/CIRCGEN.120.003302
PMCID:
PMC8284375
ArticlePubReaderPDF–534KCite
7.
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features
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
ArticlePubReaderPDF–501KCite
8.
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
ArticlePubReaderPDF–855KCite
9.
‘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
ArticlePubReaderPDF–748KCite
10.
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
Andreas Brodehl, Alexey Meshkov, Roman Myasnikov, Anna Kiseleva, Olga Kulikova, Bärbel Klauke, Evgeniia Sotnikova, Caroline Stanasiuk, Mikhail Divashuk, Greta Marie Pohl, Maria Kudryavtseva, Karin Klingel, Brenda Gerull, Anastasia Zharikova, Jan Gummert, Sergey Koretskiy, Stephan Schubert, Elena Mershina, Anna Gärtner, Polina Pilus, Kai Thorsten Laser, Valentin Sinitsyn, Sergey Boytsov, Oxana Drapkina, Hendrik Milting
Int J Mol Sci. 2021 Apr; 22(7): 3786. Published online 2021 Apr 6. doi: 10.3390/ijms22073786
PMCID:
PMC8038858
ArticlePubReaderPDF–4.4MCite
11.
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
ArticlePubReaderPDF–2.4MCite
12.
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
ArticlePubReaderPDF–960KCite
13.
Long term CMR follow up of patients with right ventricular abnormality and clinically suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)
Giuseppe Femia, Christopher Semsarian, Mark McGuire, Raymond W. Sy, Rajesh Puranik
J Cardiovasc Magn Reson. 2019; 21: 76. Published online 2019 Dec 12. doi: 10.1186/s12968-019-0581-0
PMCID:
PMC6909455
ArticlePubReaderPDF–699KCite
14.
Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective
Kai Chen, Jiangping Song, Zhen Wang, Man Rao, Liang Chen, Shengshou Hu
Clin Cardiol. 2018 May; 41(5): 615–622. Published online 2018 May 11. doi: 10.1002/clc.22906
PMCID:
PMC6490078
ArticlePubReaderPDF–1.6MCite
15.
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies
Chaoxia Lu, Wei Wu, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang, Xue Zhang
J Transl Med. 2018; 16: 241. Published online 2018 Aug 30. doi: 10.1186/s12967-018-1605-5
PMCID:
PMC6117967
ArticlePubReaderPDF–842KCite
16.
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
ArticlePubReaderPDF–2.2MCite
17.
Exploring digenic inheritance in arrhythmogenic cardiomyopathy
Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva, Alessandra Rossini
BMC Med Genet. 2017; 18: 145. Published online 2017 Dec 8. doi: 10.1186/s12881-017-0503-7
PMCID:
PMC5723071
ArticlePubReaderPDF–1.2MCite
18.
Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis
Zhenyan Xu, Wengen Zhu, Cen Wang, Lin Huang, Qiongqiong Zhou, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
Sci Rep. 2017; 7: 41387. Published online 2017 Jan 25. doi: 10.1038/srep41387
PMCID:
PMC5264593
ArticlePubReaderPDF–1.1MCite
19.
Pathogenesis of Arrhythmogenic Cardiomyopathy
Angeliki Asimaki, Andre G. Kleber, Jeffrey E. Saffitz
Can J Cardiol. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Can J Cardiol. 2015 Nov; 31(11): 1313–1324. Published online 2015 Apr 24. doi: 10.1016/j.cjca.2015.04.012
PMCID:
PMC4619183
ArticlePubReaderPDF–1.1MCite
20.
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy
Francesca Brun, Carl V. Barnes, Gianfranco Sinagra, Dobromir Slavov, Giulia Barbati, Xiao Zhu, Sharon L. Graw, Anita Spezzacatene, Bruno Pinamonti, Marco Merlo, Ernesto E. Salcedo, William H. Sauer, Matthew R.G. Taylor, Luisa Mestroni
J Med Genet. Author manuscript; available in PMC 2015 Jun 14.
Published in final edited form as: J Med Genet. 2014 Oct; 51(10): 669–676. Published online 2014 Aug 25. doi: 10.1136/jmedgenet-2014-102591
PMCID:
PMC4465780
ArticlePubReaderPDF–754KCite

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