PMC Articles for MedGen (Select 348780) - PMC

Chloe Rixon, Kristine Andreassen, Xin Shen, Pugazendhi Murugan Erusappan, Vibeke Marie Almaas, Sheryl Palmero, Christen Peder Dahl, Thor Ueland, Ivar Sjaastad, William Edward Louch, Mathis Korseberg Stokke, Theis Tønnessen, Geir Christensen, Ida Gjervold Lunde

ESC Heart Fail. 2023 Apr; 10(2): 858–871. Published online 2022 Nov 29. doi: 10.1002/ehf2.14234

PMCID:: PMC10053290

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Select item 97456656.

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 92386127.

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 90688048.

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 86836199.

Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review

Maria Papathanasiou, Alexander Carpinteiro, David Kersting, Aiste‐Monika Jakstaite, Tim Hagenacker, Thomas‐Wilfried Schlosser, Christoph Rischpler, Tienush Rassaf, Peter Luedike

Mol Genet Genomic Med. 2021 Dec; 9(12): e1581. Published online 2020 Dec 20. doi: 10.1002/mgg3.1581

PMCID:: PMC8683619

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Select item 847565910.

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 843442011.

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 838005912.

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Luis R Lopes, Soledad Garcia-Hernández, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martí, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Cañamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y T Kwok, Jacob B Smith, Enzo R Porrello, Mohammed M Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A Elliott, Lorenzo Monserrat, Perry M Elliott

Eur Heart J. 2021 Aug 21; 42(32): 3063–3073. Published online 2021 Jul 15. doi: 10.1093/eurheartj/ehab424

PMCID:: PMC8380059

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Select item 820074513.

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 797184214.

Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach

Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A. Hobbs, Marilyn L. Browne, Lorenzo D. Botto, Richard H. Finnell, Mary M. Jenkins, Andrew Olshan, Paul A. Romitti, Gary M. Shaw, Martha M. Werler, Jingyun Li, Wendy N. Nembhard, the National Birth Defects Prevention Study

PLoS Genet. 2021 Mar; 17(3): e1009413. Published online 2021 Mar 8. doi: 10.1371/journal.pgen.1009413

PMCID:: PMC7971842

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Select item 776469215.

Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults—The Value of Reevaluating and Expanding Gene Panel Analyses

Eva Fernlund, Antheia Kissopoulou, Henrik Green, Jan-Erik Karlsson, Rada Ellegård, Hanna Klang Årstrand, Jon Jonasson, Cecilia Gunnarsson

Genes (Basel) 2020 Dec; 11(12): 1472. Published online 2020 Dec 8. doi: 10.3390/genes11121472

PMCID:: PMC7764692

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Select item 772720016.

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy

Lazar Velicki, Djordje G. Jakovljevic, Andrej Preveden, Miodrag Golubovic, Marija Bjelobrk, Aleksandra Ilic, Snezana Stojsic, Fausto Barlocco, Maria Tafelmeier, Nduka Okwose, Milorad Tesic, Paul Brennan, Dejana Popovic, Arsen Ristic, Guy A. MacGowan, Nenad Filipovic, Lars S. Maier, Iacopo Olivotto

BMC Cardiovasc Disord. 2020; 20: 516. Published online 2020 Dec 9. doi: 10.1186/s12872-020-01807-4

PMCID:: PMC7727200

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Select item 752412817.

ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

Tiina Heliö, Perry Elliott, Juha W. Koskenvuo, Juan R. Gimeno, Luigi Tavazzi, Michal Tendera, Juan Pablo Kaski, Nicolas Mansencal, Zofia Bilińska, Gerry Carr‐White, Thibaud Damy, Andrea Frustaci, Ingrid Kindermann, Tomas Ripoll‐Vera, Jelena Čelutkienė, Anna Axelsson, Massimiliano Lorenzini, Aly Saad, Aldo P. Maggioni, Cécile Laroche, Alida L.P. Caforio, Philippe Charron, EORP Cardiomyopathy Registry Investigators Group

ESC Heart Fail. 2020 Oct; 7(5): 3013–3021. Published online 2020 Aug 7. doi: 10.1002/ehf2.12925

PMCID:: PMC7524128

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Select item 749748218.

Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry

Marco Canepa, Carlo Fumagalli, Giacomo Tini, Justin Vincent-Tompkins, Sharlene M. Day, Euan A. Ashley, Francesco Mazzarotto, James S. Ware, Michelle Michels, Daniel Jacoby, Carolyn Y. Ho, Iacopo Olivotto

Circ Heart Fail. 2020 Sep; 13(9): e007230. Published online 2020 Sep 8. doi: 10.1161/CIRCHEARTFAILURE.120.007230

PMCID:: PMC7497482

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Select item 722865719.

Aetiological and morphological spectrum of cardiomyopathies in French Guiana: a retrospective study

Paul Leménager, Yves-Kenol Franck, Florine Corlin, Nicolas Bouscaren, Mathieu Nacher, Antoine Adenis

Open Heart. 2020; 7(1): e001206. Published online 2020 May 12. doi: 10.1136/openhrt-2019-001206

PMCID:: PMC7228657

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Select item 665495420.

Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy

Noboru Fujino, Masami Shimizu, Hidekazu Ino, Kazuyasu Okeie, Masato Yamaguchi, Toshihiko Yasuda, Hiromasa Kokado, Hiroshi Mabuchi

Clin Cardiol. 2001 May; 24(5): 397–402. Published online 2009 Feb 3. doi: 10.1002/clc.4960240510

PMCID:: PMC6654954

Summary PDF–580K Cite

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