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Select item 96372011.

Prevalence, incidence and mortality of hypertrophic cardiomyopathy based on a population cohort of 21.9 million in China

Ying Bai, Jian-Peng Zheng, Feng Lu, Xi-Lin Zhang, Chang-Ping Sun, Wei-Hua Guo, Yi-Xi Zou, Gregory Y. H. Lip, Xu-Bo Shi

Sci Rep. 2022; 12: 18799. Published online 2022 Nov 5. doi: 10.1038/s41598-022-20042-9

PMCID:: PMC9637201

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Select item 74938382.

Tolerance of torasemide in cats with congestive heart failure: a retrospective study on 21 cases (2016–2019)

Camille Poissonnier, Sarra Ghazal, Peggy Passavin, Maria-Paz Alvarado, Solène Lefort, Emilie Trehiou-Sechi, Vittorio Saponaro, Alix Barbarino, Julia Delle Cave, Charlie-Rose Marchal, Boris Depré, Etienne Vannucci, Renaud Tissier, Patrick Verwaerde, Valérie Chetboul

BMC Vet Res. 2020; 16: 339. Published online 2020 Sep 16. doi: 10.1186/s12917-020-02554-6

PMCID:: PMC7493838

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Select item 101788003.

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

Stefania Lenarduzzi, Beatrice Spedicati, Beatrice Alessandrini, Paola Tesolin, Alessia Paldino, Marta Gigli, Gianfranco Sinagra, Paolo Gasparini, Matteo Dal Ferro, Giorgia Girotto

Mol Genet Genomic Med. 2023 May; 11(5): e2143. Published online 2023 Feb 14. doi: 10.1002/mgg3.2143

PMCID:: PMC10178800

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Select item 101786484.

Pathogenic BCS1L Mutation Resulting in Hypertrophic Cardiomyopathy: A Unique Presentation of Nuclear Mitochondrial Disease

Cameron Incognito, Jeffrey Hedley, Kristine T. Posadas, Xiangling Wang, Milind Desai

Tex Heart Inst J. 2023 Mar; 50(2): e217730. Published online 2023 Mar 31. doi: 10.14503/THIJ-21-7730

PMCID:: PMC10178648

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Select item 99461695.

Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy

Nay Aung, Luis R. Lopes, Stefan van Duijvenboden, Andrew R. Harper, Anuj Goel, Christopher Grace, Carolyn Y. Ho, William S. Weintraub, Christopher M. Kramer, Stefan Neubauer, Hugh C. Watkins, Steffen E. Petersen, Patricia B. Munroe

Circ Genom Precis Med. 2023 Feb; 16(1): e003716. Published online 2023 Jan 4. doi: 10.1161/CIRCGEN.122.003716

PMCID:: PMC9946169

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Select item 98716956.

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

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Select item 97456657.

Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Luis R Lopes, Maria-Angela Losi, Nabeel Sheikh, Cécile Laroche, Philippe Charron, Juan Gimeno, Juan P Kaski, Aldo P Maggioni, Luigi Tavazzi, Eloisa Arbustini, Dulce Brito, Jelena Celutkiene, Albert Hagege, Ales Linhart, Jens Mogensen, José Manuel Garcia-Pinilla, Tomas Ripoll-Vera, Hubert Seggewiss, Eduardo Villacorta, Alida Caforio, Perry M Elliott, The Cardiomyopathy Registry Investigators Group

Eur Heart J Qual Care Clin Outcomes. 2023 Jan; 9(1): 42–53. Published online 2022 Feb 9. doi: 10.1093/ehjqcco/qcac006

PMCID:: PMC9745665

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Select item 92386128.

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

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Select item 90688049.

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

Mario Torrado, Emilia Maneiro, Arsonval Lamounier Junior, Miguel Fernández-Burriel, Sara Sánchez Giralt, Ana Martínez-Carapeto, Laura Cazón, Elisa Santiago, Juan Pablo Ochoa, William J. McKenna, Luis Santomé, Lorenzo Monserrat

Sci Rep. 2022; 12: 7284. Published online 2022 May 4. doi: 10.1038/s41598-022-11159-y

PMCID:: PMC9068804

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Select item 870118910.

MiRNA-Regulated Pathways for Hypertrophic Cardiomyopathy: Network-Based Approach to Insight into Pathogenesis

German Osmak, Natalia Baulina, Ivan Kiselev, Olga Favorova

Genes (Basel) 2021 Dec; 12(12): 2016. Published online 2021 Dec 18. doi: 10.3390/genes12122016

PMCID:: PMC8701189

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Select item 864928211.

Disease Expression and Outcomes in Black and White Adults With Hypertrophic Cardiomyopathy

Milla E. Arabadjian, Gary Yu, Mark V. Sherrid, Victoria Vaughan Dickson

J Am Heart Assoc. 2021 Sep 7; 10(17): e019978. Published online 2021 Aug 25. doi: 10.1161/JAHA.120.019978

PMCID:: PMC8649282

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Select item 847565912.

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon

J Am Heart Assoc. 2021 Aug 3; 10(15): e020227. Published online 2021 Jul 26. doi: 10.1161/JAHA.120.020227

PMCID:: PMC8475659

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Select item 843442013.

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

Antonio de Marvao, Kathryn A. McGurk, Sean L. Zheng, Marjola Thanaj, Wenjia Bai, Jinming Duan, Carlo Biffi, Francesco Mazzarotto, Ben Statton, Timothy J.W. Dawes, Nicolò Savioli, Brian P. Halliday, Xiao Xu, Rachel J. Buchan, A. John Baksi, Marina Quinlan, Paweł Tokarczuk, Upasana Tayal, Catherine Francis, Nicola Whiffin, Pantazis I. Theotokis, Xiaolei Zhang, Mikyung Jang, Alaine Berry, Antonis Pantazis, Paul J.R. Barton, Daniel Rueckert, Sanjay K. Prasad, Roddy Walsh, Carolyn Y. Ho, Stuart A. Cook, James S. Ware, Declan P. O’Regan

J Am Coll Cardiol. 2021 Sep 14; 78(11): 1097–1110. doi: 10.1016/j.jacc.2021.07.017

PMCID:: PMC8434420

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Select item 829361114.

Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy

Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo

Ann Noninvasive Electrocardiol. 2021 Jul; 26(4): e12813. Published online 2020 Nov 5. doi: 10.1111/anec.12813

PMCID:: PMC8293611

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Select item 825748215.

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

Andrea D. Thompson, Adam S. Helms, Anamika Kannan, Jaime Yob, Neal K. Lakdawala, Samuel G. Wittekind, Alexandre C. Pereira, Daniel L. Jacoby, Steven D. Colan, Euan A. Ashley, Sara Saberi, James S. Ware, Jodie Ingles, Christopher Semsarian, Michelle Michels, Francesco Mazzarotto, Iacopo Olivotto, Carolyn Y. Ho, Sharlene M. Day

Genet Med. 2021; 23(7): 1281–1287. Published online 2021 Mar 29. doi: 10.1038/s41436-021-01134-9

PMCID:: PMC8257482

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Select item 820074516.

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study

Stephanie M. Ware, James D. Wilkinson, Muhammad Tariq, Jeffrey A. Schubert, Arthi Sridhar, Steven D. Colan, Ling Shi, Charles E. Canter, Daphne T. Hsu, Steven A. Webber, Debra A. Dodd, Melanie D. Everitt, Paul F. Kantor, Linda J. Addonizio, John L. Jefferies, Joseph W. Rossano, Elfriede Pahl, Paolo Rusconi, Wendy K. Chung, Teresa Lee, Jeffrey A. Towbin, Ashwin K. Lal, Surbhi Bhatnagar, Bruce Aronow, Phillip J. Dexheimer, Lisa J. Martin, Erin M. Miller, Lynn A. Sleeper, Hiedy Razoky, Jason Czachor, Steven E. Lipshultz, Pediatric Cardiomyopathy Registry Study Group

J Am Heart Assoc. 2021 May 4; 10(9): e017731. Published online 2021 Apr 28. doi: 10.1161/JAHA.120.017731

Correction in:: J Am Heart Assoc. 2021 Jun 1; 10(11): e020840.

PMCID:: PMC8200745

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Select item 779074917.

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

Xiaolei Zhang, Roddy Walsh, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Risha Govind, Nicholas Li, Mian Ahmad, Francesco Mazzarotto, Angharad Roberts, Pantazis I. Theotokis, Erica Mazaika, Mona Allouba, Antonio de Marvao, Chee Jian Pua, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Iacopo Olivotto, Gunnar T. Gunnarsson, John L. Jefferies, Chris Semsarian, Jodie Ingles, Declan P. O’Regan, Yasmine Aguib, Magdi H. Yacoub, Stuart A. Cook, Paul J. R. Barton, Leonardo Bottolo, James S. Ware

Genet Med. 2021; 23(1): 69–79. Published online 2020 Oct 13. doi: 10.1038/s41436-020-00972-3

PMCID:: PMC7790749

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Select item 774514118.

Assessing the Role of Rare Genetic Variation in Patients With Heart Failure

Gundula Povysil, Olympe Chazara, Keren J. Carss, Sri V. V. Deevi, Quanli Wang, Javier Armisen, Dirk S. Paul, Christopher B. Granger, John Kjekshus, Vimla Aggarwal, Carolina Haefliger, David B. Goldstein

JAMA Cardiol. 2021 Apr; 6(4): 379–386. Published online 2020 Dec 16. doi: 10.1001/jamacardio.2020.6500

PMCID:: PMC7745141

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Select item 772222819.

Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants

Anthony M. Pettinato, Feria A. Ladha, David J. Mellert, Nicholas Legere, Rachel Cohn, Robert Romano, Ketan Thakar, Yu-Sheng Chen, J. Travis Hinson

Circulation. Author manuscript; available in PMC 2021 Dec 8.

Published in final edited form as: Circulation. 2020 Dec 8; 142(23): 2262–2275. Published online 2020 Oct 7. doi: 10.1161/CIRCULATIONAHA.120.047999

PMCID:: PMC7722228

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Select item 771697120.

Nystagmus in infantile Pompe disease: a new feature?

Emanuela Claudia Turco, Carlotta Facini, Benedetta Piccolo, Francesco Pisani

Acta Biomed. 2020; 91(3): e2020083. Published online 2020 Sep 7. doi: 10.23750/abm.v91i3.8366

PMCID:: PMC7716971

Article PubReader PDF–550K Cite

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