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Items: 1 to 20 of 500

1.
Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy
Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E. F. Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B. Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kaski
ESC Heart Fail. 2024 Apr; 11(2): 923–936. Published online 2024 Jan 13. doi: 10.1002/ehf2.14637
PMCID:
PMC10966228
ArticlePDF–751K
2.
Electrophysiological Characterization of Subclinical and Overt Hypertrophic Cardiomyopathy by Magnetic Resonance Imaging-Guided Electrocardiography
George Joy, Luis R. Lopes, Matthew Webber, Alessandra M. Ardissino, James Wilson, Fiona Chan, Iain Pierce, Rebecca K. Hughes, Konstantinos Moschonas, Hunain Shiwani, Robert Jamieson, Paula P. Velazquez, Ramya Vijayakumar, Erica Dall’Armellina, Peter W. Macfarlane, Charlotte Manisty, Peter Kellman, Rhodri H. Davies, Maite Tome, Vladan Koncar, Xuyuan Tao, Christoph Guger, Yoram Rudy, Alun D. Hughes, Pier D. Lambiase, James C. Moon, Michele Orini, Gabriella Captur
J Am Coll Cardiol. 2024 Mar 19; 83(11): 1042–1055. doi: 10.1016/j.jacc.2024.01.006
PMCID:
PMC10945386
ArticlePDF–2.8M
3.
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy
Constantin-Cristian Topriceanu, Alexandre C. Pereira, James C. Moon, Gabriella Captur, Carolyn Y. Ho
Circulation. 2024 Jan 9; 149(2): 107–123. Published online 2023 Nov 6. doi: 10.1161/CIRCULATIONAHA.123.065987
PMCID:
PMC10775968
ArticlePDF–1.5M
4.
Receptor interacting protein kinase‐3 mediates both myopathy and cardiomyopathy in preclinical animal models of Duchenne muscular dystrophy
Maximilien Bencze, Baptiste Periou, Isabel Punzón, Inès Barthélémy, Valentina Taglietti, Cyrielle Hou, Louai Zaidan, Kaouthar Kefi, Stéphane Blot, Onnik Agbulut, Marianne Gervais, Geneviève Derumeaux, François‐Jérôme Authier, Laurent Tiret, Fréderic Relaix
J Cachexia Sarcopenia Muscle. 2023 Dec; 14(6): 2520–2531. Published online 2023 Nov 1. doi: 10.1002/jcsm.13265
PMCID:
PMC10751447
ArticlePDF–3.7M
5.
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study
Nicoleta-Monica Popa-Fotea, Nicoleta Oprescu, Alexandru Scafa-Udriste, Miruna Mihaela Micheu
Int J Mol Sci. 2023 Dec; 24(24): 17244. Published online 2023 Dec 8. doi: 10.3390/ijms242417244
PMCID:
PMC10743528
ArticlePDF–312K
6.
Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy
Caibo Ning, Linyun Fan, Meng Jin, Wenji Wang, Zhiqiang Hu, Yimin Cai, Liangkai Chen, Zequn Lu, Ming Zhang, Can Chen, Yanmin Li, Fuwei Zhang, Wenzhuo Wang, Yizhuo Liu, Shuoni Chen, Yuan Jiang, Chunyi He, Zhuo Wang, Xu Chen, Hanting Li, Gaoyuan Li, Qianying Ma, Hui Geng, Wen Tian, Heng Zhang, Bo Liu, Qing Xia, Xiaojun Yang, Zhongchun Liu, Bin Li, Ying Zhu, Xiangpan Li, Shaoting Zhang, Jianbo Tian, Xiaoping Miao
Nat Commun. 2023; 14: 7900. Published online 2023 Nov 30. doi: 10.1038/s41467-023-43771-5
PMCID:
PMC10689443
ArticlePDF–2.1M
7.
Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients
Catalina García-Vielma, Luis Gerardo Lazalde-Córdova, José Cruz Arzola-Hernández, Erick Noel González-Aceves, Herminio López-Zertuche, Nancy Elena Guzmán-Delgado, Francisco González-Salazar
Mol Genet Genomics. 2023; 298(6): 1289–1299. Published online 2023 Jul 27. doi: 10.1007/s00438-023-02048-8
Correction in:
Mol Genet Genomics. 2023; 298(6): 1593.
PMCID:
PMC10657276
ArticlePDF–1.0M
8.
Identification of concealed cardiomyopathy using next-generation sequencing–based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation
Joo Hee Jeong, Yun Gi Kim, Suk-Kyu Oh, Hyoung Seok Lee, Yun Young Choi, Kyongjin Min, Jaemin Shim, Yae Min Park, Jun-Hyung Kim, Yong-Seog Oh, Nam-Ho Kim, Hui-Nam Pak, Young Keun On, Hyung Wook Park, Gyo-Seung Hwang, Dae-Kyeong Kim, Young-Ah Park, Hyoung-Seob Park, Yongkeun Cho, Seil Oh, Jong-Il Choi, Young-Hoon Kim
Europace. 2023 Nov; 25(11): euad313. Published online 2023 Nov 10. doi: 10.1093/europace/euad313
PMCID:
PMC10639093
ArticlePDF–269K
9.
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye
Veysel Oktay, Omaç Tüfekçioğlu, Dilek Çicek Yılmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balcıoğlu, Mehmet Murat Sucu, Güllü Özdemir, Hakkı Kaya, Mehmet Kış, Barış Güven, Oktay Bağdatoğlu, Fatma Nihan Turhan Çağlar, Uygar Çağdaş Yüksel, İrfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih Şimşir, İbrahim Başarıcı, Afşin Parspur, Onur Dalgıç, Fatma Özlem Arıcan Özlük, Mert Evlice, Saim Sağ, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner Şen, Osman Özdabakoğlu, Nermin Bayar Çakıcı, Eren Ozan Bakır, Ayşegül Ülgen Kunak, Gizem Çaylı, Aybike Gül Taşdelen, Ercan Akşit, Şefika Uslu Çil, Hüseyin Onay
Anatol J Cardiol. 2023 Nov; 27(11): 628–638. Published online 2023 Nov 1. doi: 10.14744/AnatolJCardiol.2023.2805
PMCID:
PMC10621609
ArticlePDF–1.5M
10.
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy
George Joy, Christopher I. Kelly, Matthew Webber, Iain Pierce, Irvin Teh, Louise McGrath, Paula Velazquez, Rebecca K. Hughes, Huafrin Kotwal, Arka Das, Fiona Chan, Athanasios Bakalakos, Massimiliano Lorenzini, Konstantinos Savvatis, Saidi A. Mohiddin, Peter W. Macfarlane, Michele Orini, Charlotte Manisty, Peter Kellman, Rhodri H. Davies, Pier D. Lambiase, Christopher Nguyen, Jurgen E. Schneider, Maite Tome, Gabriella Captur, Erica Dall’Armellina, James C. Moon, Luis R. Lopes
Circulation. 2023 Sep 5; 148(10): 808–818. Published online 2023 Jul 18. doi: 10.1161/CIRCULATIONAHA.123.063835
PMCID:
PMC10473031
ArticlePDF–1.1M
11.
Deep learning-derived 12-lead electrocardiogram-based genotype prediction for hypertrophic cardiomyopathy: a pilot study
LaiTe Chen, GuoSheng Fu, ChenYang Jiang
Ann Med. 2023; 55(1): 2235564. Published online 2023 Jul 19. doi: 10.1080/07853890.2023.2235564
PMCID:
PMC10360981
ArticlePDF–461K
12.
SARC Gene Mutation Is Associated With Myocardial Fibrosis Measured by Histopathology and Cardiac Magnetic Resonance in Patients With Hypertrophic Cardiomyopathy
Manyun Huang, Jian Zhang, Changpeng Song, Shuiyun Wang, Zhou Zhou, Hongyue Wang, Shihua Zhao, Kunlun Yin, Li Li, Shujuan Yang, Xinxin Zheng, Jie Lu, Xiaohong Huang
J Am Heart Assoc. 2023 Mar 7; 12(5): e028293. Published online 2023 Feb 21. doi: 10.1161/JAHA.122.028293
PMCID:
PMC10111446
ArticlePDF–1.1M
13.
Familial risk of dilated and hypertrophic cardiomyopathy: a national family study in Sweden
Fabrizio Ricci, Behzad Banihashemi, Mirnabi Pirouzifard, Jan Sundquist, Kristina Sundquist, Richard Sutton, Artur Fedorowski, Bengt Zöller
ESC Heart Fail. 2023 Feb; 10(1): 121–132. Published online 2022 Sep 28. doi: 10.1002/ehf2.14171
PMCID:
PMC9871695
ArticlePDF–379K
14.
Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series
Zhu Xuan Zhong, Julie Harris, Ellen Wilber, Samantha Gorman, David B. Savage, Stephen O'Rahilly, Anna Stears, Rachel M. Williams
Clin Endocrinol (Oxf) 2022 Dec; 97(6): 755–762. Published online 2022 Aug 17. doi: 10.1111/cen.14806
PMCID:
PMC9804585
ArticlePDF–554K
15.
Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy
Ramil R. Salakhov, Maria V. Golubenko, Nail R. Valiakhmetov, Elena N. Pavlyukova, Aleksei A. Zarubin, Nadezhda P. Babushkina, Aksana N. Kucher, Aleksei A. Sleptcov, Maria S. Nazarenko
Int J Mol Sci. 2022 Dec; 23(24): 15845. Published online 2022 Dec 13. doi: 10.3390/ijms232415845
PMCID:
PMC9779642
ArticlePDF–1.8M
16.
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records with Genetics
Navid A. Nafissi, Jawan W. Abdulrahim, Lydia Coulter Kwee, Amanda C. Coniglio, William E. Kraus, Jonathan P. Piccini, James P. Daubert, Albert Y. Sun, Svati H. Shah
Circ Genom Precis Med. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: Circ Genom Precis Med. 2022 Oct; 15(5): e003675. Published online 2022 Sep 22. doi: 10.1161/CIRCGEN.121.003675
PMCID:
PMC9588708
ArticlePDF–641K
17.
Early Diagnosis of Abnormal Left Ventricular Systolic Functions of Rare Pathogenic Titin Mutation Gene Carriers in FHCM by Three-Dimensional Speckle Tracking Echocardiography Combined with Gene Detection
Xiang-hong Luo, Rui Zhu, Qian Chen, Pei-hong Shi, Li-sha Na
Int J Clin Pract. 2022; 2022: 3415545. Published online 2022 Oct 11. doi: 10.1155/2022/3415545
PMCID:
PMC9578807
ArticlePDF–1.4M
18.
Targeting the sarcomere in inherited cardiomyopathies
Sarah J. Lehman, Claudia Crocini, Leslie A. Leinwand
Nat Rev Cardiol. Author manuscript; available in PMC 2023 Jun 1.
Published in final edited form as: Nat Rev Cardiol. 2022 Jun; 19(6): 353–363. Published online 2022 Mar 18. doi: 10.1038/s41569-022-00682-0
PMCID:
PMC9119933
ArticlePDF–879K
19.
The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology
K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov, A. Fisenko
Orphanet J Rare Dis. 2022; 17: 199. Published online 2022 May 16. doi: 10.1186/s13023-022-02319-4
PMCID:
PMC9109305
ArticlePDF–979K
20.
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality
Aniruddh P. Patel, Jacqueline S. Dron, Minxian Wang, James P. Pirruccello, Kenney Ng, Pradeep Natarajan, Matthew Lebo, Patrick T. Ellinor, Krishna G. Aragam, Amit V. Khera
JAMA Cardiol. 2022 Jul; 7(7): 723–732. Published online 2022 May 11. doi: 10.1001/jamacardio.2022.0901
PMCID:
PMC9096692
Article

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