A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy

Autor: Magda Franke, Tomasz Marcin Książczyk, Marta Dux, Przemysław Chmielewski, Grażyna Truszkowska, Dorota Czapczak, Radosław Pietrzak, Zofia Teresa Bilinska, Urszula Demkow, Bożena Werner

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Background: Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500–1:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. MYH7 gene encoding a myosin heavy chain beta, together w

Externí odkaz: https://doaj.org/article/17e17583586a41ed91ccb31339f08a80

Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment

Autor: Przemysław Chmielewski, Grażyna Truszkowska, Ilona Kowalik, Małgorzata Rydzanicz, Ewa Michalak, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Piotr Stawiński, Małgorzata Stępień-Wojno, Artur Oręziak, Michał Lewandowski, Przemysław Leszek, Maria Bilińska, Tomasz Zieliński, Rafał Płoski, Zofia T. Bilińska

Publikováno v: Diagnostics, Vol 12, Iss 1, p 13 (2021)

Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early

Externí odkaz: https://doaj.org/article/54e9724ff6f042be80dc9073f8cf5bb3

Natural History of MYH7-Related Dilated Cardiomyopathy

Autor: Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro-Peñalver, Annette Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Méndez, Rebeca Lorca, Job A.J. Verdonschot, Pablo Elpidio García-Granja, Zofia Bilinska, Diane Fatkin, M. Eugenia Fuentes-Cañamero, José M. García-Pinilla, María I. García-Álvarez, Francesca Girolami, Roberto Barriales-Villa, Carles Díez-López, Luis R. Lopes, Karim Wahbi, Ana García-Álvarez, Ibon Rodríguez-Sánchez, Javier Rekondo-Olaetxea, José F. Rodríguez-Palomares, María Gallego-Delgado, Benjamin Meder, Milos Kubanek, Frederikke G. Hansen, María Alejandra Restrepo-Córdoba, Julián Palomino-Doza, Luis Ruiz-Guerrero, Georgia Sarquella-Brugada, Alberto José Perez-Perez, Francisco José Bermúdez-Jiménez, Tomas Ripoll-Vera, Torsten Bloch Rasmussen, Mark Jansen, Maria Sabater-Molina, Perry M. Elliot, Pablo Garcia-Pavia, Eva Cabrera-Romero, Marta Cobo-Marcos, Luis Escobar-Lopez, Fernando Domínguez, Esther González-López, Juan Ramón Gimeno-Blanes, Dennis Dooijes, Bernabé López Ledesma, Inés Roche Fortea, Javier Bermejo, Maria Angeles Espinosa, Ana Isabel Fernández, Silvia Vilches, Cristina Gómez, Juan Gómez, Eliecer Coto, José Julián Rodríguez Reguero, S.R.B. Heymans, H.G. Brunner, Javier López-Díaz, Grażyna Truszkowska, Rafal Ploski, Przemysław Chmielewski, Renee Johnson, Ainhoa Robles-Mezcua, Arancha Díaz-Expósito, Alejandro I. Pérez-Cabeza, Clara Jiménez-Rubio, Vicente Climent Payá, Silvia Favilli, Petros Syrris, Douglas Cannie, Clarisse Billon, Angela Lopez-Sainz, Margarita Calvo, Ángela Cacicedo Fernández de Bobadilla, Jose Juan Onaindia-Gandarias, Larraitz Gaztañaga-Arantzamendi, Estibaliz Zamarreño-Golvano, Javier Limeres, Laura Gutiérrez-García, Eduardo Villacorta, Jan Haas, Alice Krebsova, Jens Mogensen, Sergi Cesar, Oscar Campuzano, Raúl Franco Gutiérrez, Jorge Alvarez-Rubio, David Cremer-Luengos, Guido Antoniutti, Fiama Caimi-Martinez, Rosa Macías, Juan Jiménez-Jáimez, María Luisa Peña-Peña, Salvador Lucas Díez-Aja López, Tania Pino Acereda, Blanca Arnáez Corada, Jesús Piqueras-Flores, Martin Negreira-Caamaño, Jorge Martinez-del Río, María Victoria Mogollón Jiménez, Elena Villanueva, José Luis Gonzáles, Adrián Fernández, Ulises Toscanini, Lilian E. Favaloro, Carlota Hernández Díez

Publikováno v: Journal of the American College of Cardiology, 80, 1447-1461
Journal of the American College of Cardiology, 80, 15, pp. 1447-1461
Journal of the American College of Cardiology, 80(15), 1447-1461. Elsevier Science
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus
de Frutos, F, Ochoa, J P, Navarro-Peñalver, M, Baas, A, Bjerre, J V, Zorio, E, Méndez, I, Lorca, R, Verdonschot, J A J, García-Granja, P E, Bilinska, Z, Fatkin, D, Fuentes-Cañamero, M E, García-Pinilla, J M, García-Álvarez, M I, Girolami, F, Barriales-Villa, R, Díez-López, C, Lopes, L R, Wahbi, K, García-Álvarez, A, Rodríguez-Sánchez, I, Rekondo-Olaetxea, J, Rodríguez-Palomares, J F, Gallego-Delgado, M, Meder, B, Kubanek, M, Hansen, F G, Restrepo-Córdoba, M A, Palomino-Doza, J, Ruiz-Guerrero, L, Sarquella-Brugada, G, Perez-Perez, A J, Bermúdez-Jiménez, F J, Ripoll-Vera, T, Rasmussen, T B, Jansen, M, Sabater-Molina, M, Elliot, P M, Garcia-Pavia, P & European Genetic Cardiomyopathies Initiative Investigators 2022, ' Natural History of MYH7-Related Dilated Cardiomyopathy ', Journal of the American College of Cardiology, vol. 80, no. 15, pp. 1447-1461 . https://doi.org/10.1016/j.jacc.2022.07.023
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante

Instituto de Salud Carlos III (ISCIII), European Regional Development Fund/European Social Fund "A way to make Europe"/" Investing in your future" [PI18/0004, PI20/0320, PT17/0015/0043]; ISCIII; MCIN; Pro-CNIC Foundation; Severo Ochoa Centers of Exce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d05e32d5c9a7c19acdd82bf9eaf00a
https://doi.org/10.1016/j.jacc.2022.07.023

A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk)

Autor: Philippe Charron, Benjamin Meder, Jan Haas, Grażyna Truszkowska, Mateusz Śpiewak, Hugo A. Katus, Pierre Socie, Eric Villard, Pascale Richard, Jan Koelemenoglu, Małgorzata Stępień-Wojno, Farbod Sedaghat-Hamedani, Bogna Foss-Nieradko, Weng-Tein Gi, Joanna Zakrzewska-Koperska, Elham Kayvanpour, Arjan Sammani, Ewa Michalak, Anneline S.J.M. te Riele, Folkert W. Asselbergs, Tobias Miersch, Tomasz Zieliński, Zofia T. Bilińska, Norbert Frey, Annette F. Baas, Alicia Broezel, Przemysław Chmielewski, Angelique Curjol, Rafał Płoski, David H. Lehmann

Publikováno v: International journal of cardiology, 339, 75-82. Elsevier Ireland Ltd

Background Non-ischemic dilated cardiomyopathy (DCM) can be complicated by sustained ventricular arrhythmias (SVA) and sudden cardiac death (SCD). By now, left-ventricular ejection fraction (LV-EF) is the main guideline criterion for primary prophyla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a7333b4153b760ce466cc7d436693fe
https://doi.org/10.1016/j.ijcard.2021.07.002

Titin-Related Dilated Cardiomyopathy: The Sequence of Events and The Role of Circulating Biomarkers in The Clinical Assessment

Autor: Zofia T. Bilińska, Michał Lewandowski, Piotr Stawiński, Małgorzata Sobieszczańska-Małek, Rafał Płoski, Małgorzata Rydzanicz, Artur Oręziak, Małgorzata Stępień-Wojno, Przemysław Leszek, Ewa Michalak, Grażyna Truszkowska, Tomasz Zieliński, Maria Franaszczyk, Ilona Kowalik, Maria Bilińska, Przemysław Chmielewski

Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, the clinical course is not fully understood and it is unclear whether circulating cardiac biomarkers are helpful in the detectio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::30f991522a7af37083d73e465f3f1c2f
https://doi.org/10.21203/rs.3.rs-692235/v1