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Items: 1 to 20 of 26

1.
Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
RAY E. HERSHBERGER, MICHAEL M. GIVERTZ, CAROLYN Y. HO, DANIEL P. JUDGE, PAUL F. KANTOR, KIM L. MCBRIDE, ANA MORALES, MATTHEW R.G. TAYLOR, MATTEO VATTA, STEPHANIE M. WARE
J Card Fail. Author manuscript; available in PMC 2023 Feb 7.
Published in final edited form as: J Card Fail. 2018 May; 24(5): 281–302. Published online 2018 Mar 19. doi: 10.1016/j.cardfail.2018.03.004
PMCID:
PMC9903357
ArticlePDF–446K
2.
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
ArticlePDF–849K
3.
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
ArticlePDF–788K
4.
Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator
Paloma Jordà, Laurens P Bosman, Alessio Gasperetti, Andrea Mazzanti, Jean Baptiste Gourraud, Brianna Davies, Tanja Charlotte Frederiksen, Zoraida Moreno Weidmann, Andrea Di Marco, Jason D Roberts, Ciorsti MacIntyre, Colette Seifer, Antoine Delinière, Wael Alqarawi, Deni Kukavica, Damien Minois, Alessandro Trancuccio, Marine Arnaud, Mattia Targetti, Annamaria Martino, Giada Oliviero, Daniel C Pipilas, Corrado Carbucicchio, Paolo Compagnucci, Antonio Dello Russo, Iacopo Olivotto, Leonardo Calò, Steven A Lubitz, Michael J Cutler, Philippe Chevalier, Elena Arbelo, Silvia Giuliana Priori, Jeffrey S Healey, Hugh Calkins, Michela Casella, Henrik Kjærulf Jensen, Claudio Tondo, Rafik Tadros, Cynthia A James, Andrew D Krahn, Julia Cadrin-Tourigny
Eur Heart J. 2022 Aug 21; 43(32): 3041–3052. Published online 2022 Jun 29. doi: 10.1093/eurheartj/ehac289
PMCID:
PMC9392650
ArticlePDF–1.4M
5.
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing
Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally
JAMA Cardiol. 2022 Sep; 7(9): 966–974. Published online 2022 Aug 10. doi: 10.1001/jamacardio.2022.2455
PMCID:
PMC9366660
Article
6.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
ArticlePDF–776K
7.
Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity
Anneline S. J. M. te Riele, Cynthia A. James, Hugh Calkins, Adalena Tsatsopoulou
Front Pediatr. 2021; 9: 750916. Published online 2021 Dec 2. doi: 10.3389/fped.2021.750916
PMCID:
PMC8678603
ArticlePDF–4.2M
8.
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
Cynthia A. James, Jan D.H. Jongbloed, Ray E. Hershberger, Ana Morales, Daniel P. Judge, Petros Syrris, Kalliopi Pilichou, Argelia Medeiros Domingo, Brittney Murray, Julia Cadrin-Tourigny, Ronald Lekanne Deprez, Rudy Celeghin, Alexandros Protonotarios, Babken Asatryan, Emily Brown, Elizabeth Jordan, Jennifer McGlaughon, Courtney Thaxton, C. Lisa Kurtz, J. Peter van Tintelen
Circ Genom Precis Med. 2021 Jun; 14(3): e003273. Published online 2021 Apr 8. doi: 10.1161/CIRCGEN.120.003273
PMCID:
PMC8205996
ArticlePDF–934K
9.
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling
Angela Abicht, Ulrike Schön, Andreas Laner, Elke Holinski-Feder, Isabel Diebold
Cardiovasc Diagn Ther. 2021 Apr; 11(2): 637–649. doi: 10.21037/cdt-20-585
PMCID:
PMC8102260
ArticlePDF–426K
10.
Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy
Ryan Wallace, Hugh Calkins
Arrhythm Electrophysiol Rev. 2021 Apr; 10(1): 26–32. doi: 10.15420/aer.2020.39
PMCID:
PMC8076971
ArticlePDF–244K
11.
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
ArticlePDF–4.4M
12.
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy
Eric D Smith, Neal K Lakdawala, Nikolaos Papoutsidakis, Gregory Aubert, Andrea Mazzanti, Anthony C McCanta, Prachi P Agarwal, Patricia Arscott, Lisa M Dellefave-Castillo, Esther E Vorovich, Kavitha Nutakki, Lisa D Wilsbacher, Silvia G Priori, Daniel L Jacoby, Elizabeth M McNally, Adam S Helms
Circulation. Author manuscript; available in PMC 2021 Jun 9.
Published in final edited form as: Circulation. 2020 Jun 9; 141(23): 1872–1884. Published online 2020 May 6. doi: 10.1161/CIRCULATIONAHA.119.044934
PMCID:
PMC7286080
ArticlePDF–711K
13.
Subcutaneous Implantable Cardioverter‐Defibrillator in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: A Transatlantic Experience
Gabriela M. Orgeron, Aditya Bhonsale, Federico Migliore, Cynthia A. James, Crystal Tichnell, Brittney Murray, Emanuele Bertaglia, Julia Cadrin‐Tourigny, Pietro De Franceschi, Jane Crosson, Harikrishna Tandri, Domenico Corrado, Hugh Calkins
J Am Heart Assoc. 2018 Nov 6; 7(21): e008782. Published online 2018 Oct 26. doi: 10.1161/JAHA.118.008782
PMCID:
PMC6404172
ArticlePDF–730K
14.
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database
Charlotte L Hall, Henry Sutanto, Chrysoula Dalageorgou, William John McKenna, Petros Syrris, Marta Futema
Eur J Hum Genet. 2018 Sep; 26(9): 1312–1318. Published online 2018 May 25. doi: 10.1038/s41431-018-0169-4
PMCID:
PMC6117313
ArticlePDF–625K
15.
Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome
Deniz Akdis, Ardan M. Saguner, Khooshbu Shah, Chuanyu Wei, Argelia Medeiros-Domingo, Arnold von Eckardstein, Thomas F. Lüscher, Corinna Brunckhorst, H.S. Vincent Chen, Firat Duru
Eur Heart J. 2017 May 14; 38(19): 1498–1508. Published online 2017 Feb 18. doi: 10.1093/eurheartj/ehx011
PMCID:
PMC5837563
ArticlePDF–855K
16.
Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing: Genotype-Phenotype Association in Incidental ARVC Genetic Findings
Christopher M. Haggerty, Cynthia A. James, Hugh Calkins, Crystal Tichnell, Joseph B. Leader, Dustin N. Hartzel, Christopher D. Nevius, Sarah A. Pendergrass, Thomas N. Person, Marci Schwartz, Marylyn D. Ritchie, David J. Carey, David H. Ledbetter, Marc S. Williams, Frederick E. Dewey, Alexander Lopez, John Penn, John D. Overton, Jeffrey G. Reid, Matthew Lebo, Heather Mason-Suares, Christina Austin-Tse, Heidi L. Rehm, Brian P. Delisle, Daniel J. Makowski, Vishal C. Mehra, Michael F. Murray, Brandon K. Fornwalt
Genet Med. Author manuscript; available in PMC 2017 Nov 9.
Published in final edited form as: Genet Med. 2017 Nov; 19(11): 1245–1252. Published online 2017 May 4. doi: 10.1038/gim.2017.40
PMCID:
PMC5671380
ArticlePDF–604K
17.
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2
Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo
BMC Med Genet. 2017; 18: 86. Published online 2017 Aug 17. doi: 10.1186/s12881-017-0442-3
PMCID:
PMC5561604
ArticlePDF–753K
18.
Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy
Anke R Hodes, Crystal Tichnell, Anneline S J M te Riele, Brittney Murray, Judith A Groeneweg, Abhishek C Sawant, Stuart D Russell, Karin Y van Spaendonck-Zwarts, Maarten P van den Berg, Arthur A Wilde, Harikrishna Tandri, Daniel P Judge, Richard N W Hauer, Hugh Calkins, J Peter van Tintelen, Cynthia A James
Heart. 2016 Feb 15; 102(4): 303–312. Published online 2015 Dec 30. doi: 10.1136/heartjnl-2015-308624
PMCID:
PMC4752646
ArticlePDF–710K
19.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePDF–960K
20.
Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement
Domenico Corrado, Thomas Wichter, Mark S. Link, Richard N.W. Hauer, Frank E. Marchlinski, Aris Anastasakis, Barbara Bauce, Cristina Basso, Corinna Brunckhorst, Adalena Tsatsopoulou, Harikrishna Tandri, Matthias Paul, Christian Schmied, Antonio Pelliccia, Firat Duru, Nikos Protonotarios, NA Mark Estes, III, William J. McKenna, Gaetano Thiene, Frank I. Marcus, Hugh Calkins
Circulation. 2015 Aug 4; 132(5): 441–453. Published online 2015 Aug 3. doi: 10.1161/CIRCULATIONAHA.115.017944
PMCID:
PMC4521905
ArticlePDF–372K

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