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124 results on '"Bilinska, Zofia"'

1. Natural History of MYH7-Related Dilated Cardiomyopathy

Author

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

Published
2022
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3. Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

Author

Cannie, Douglas E., primary, Protonotarios, Alexandros, additional, Bakalakos, Athanasios, additional, Syrris, Petros, additional, Lorenzini, Massimiliano, additional, De Stavola, Bianca, additional, Bjerregaard, Louise, additional, Dybro, Anne M., additional, Hey, Thomas M., additional, Hansen, Frederikke G., additional, Navarro Peñalver, Marina, additional, Crespo-Leiro, Maria G., additional, Larrañaga-Moreira, Jose M., additional, de Frutos, Fernando, additional, Johnson, Renee, additional, Slater, Thomas A., additional, Monserrat, Lorenzo, additional, Sengupta, Anshuman, additional, Mestroni, Luisa, additional, Taylor, Matthew R.G., additional, Sinagra, Gianfranco, additional, Bilinska, Zofia, additional, Solla-Ruiz, Itziar, additional, Arana Achaga, Xabier, additional, Barriales-Villa, Roberto, additional, Garcia-Pavia, Pablo, additional, Gimeno, Juan R., additional, Dal Ferro, Matteo, additional, Merlo, Marco, additional, Wahbi, Karim, additional, Fatkin, Diane, additional, Mogensen, Jens, additional, Rasmussen, Torsten B., additional, and Elliott, Perry M., additional

Published
2023
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4. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

Author

Eiskjær, Hans, Barriales, Roberto, Fernández Fernández, Xusto, Cicerchia, Marcos, Monserrat, Lorenzo, Ochoa, Juan Pablo, Salazar-Mendiguchia, Joel, Mogollón, Maria Victoria, Ripoll, Tomás, Charron, Philippe, Richard, Pascale, Villard, Eric, Palomino Doza, Julian, Fontalba, Ana, Alonso-Pulpón, Luis, Cobo-Marcos, Marta, Domínguez, Fernando, Garcia-Pavia, Pablo, Gómez-Bueno, Manuel, González-López, Esther, Hernández-Hernández, Aitor, Hernández-Pérez, Francisco José, López-Sainz, Ángela, Restrepo-Córdoba, Alejandra, Segovia-Cubero, Javier, Toro, Rocio, de Gonzalo-Calvo, David, Rosa Longobardo, Félix, Limeres, Javier, Rodriguez-Palomares, Jose F., Garcia-Pinilla, Jose Manuel, López-Garrido, Miguel A., Jiménez-Jaimez, Juan, Garcia-Medina, Dolores, Rangel Sousa, Diego, Peña, Maria Luisa, Mogensen, Jens, Morris-Hey, Thomas, Barton, Paul J., Cook, Stuart A., Midwinter, William, Roberts, Angharad M., Ware, James S., Walsh, Roddy, Akhtar, Mohammed, Elliott, Perry M., Rocha-Lopes, Luis, Savvatis, Konstantinos, Syrris, Petros, Michalak, Ewa, Ploski, Rafal, Sobieszczanska-Malek, Malgorzata, Bilińska, Zofia, Pankuweit, Sabine, Asselbergs, Folkert, Baas, Annette, Dooijes, Dennis, Sammani, Arjan, Cuenca, Sofía, Toro, Rocío, Barriales-Villa, Roberto, Franaszczyk, Maria, Coronado-Albi, Maria José, Rangel-Sousa, Diego, Jiménez-Jáimez, Juan, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomás, Mogollón-Jiménez, Maria Victoria, Fontalba-Romero, Ana, Palomino-Doza, Julian, Salas, Clara, Hey, Thomas Morris, and Elliott, Perry

Published
2018
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5. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

Author

Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Cicerchia, Marcos, Ochoa, Juan Pablo, Hey, Thomas Morris, Sabater Molina, Maria, Restrepo-Cordoba, Maria Alejandra, Dal Ferro, Matteo, Stolfo, Davide, Johnson, Renee, Larrañaga-Moreira, José M., Robles-Mezcua, Ainhoa, Rodriguez-Palomares, Jose F., Casas, Guillem, Peña-Peña, Maria Luisa, Lopes, Luis Rocha, Gallego-Delgado, Maria, Franaszczyk, Maria, Laucey, Gemma, Rangel-Sousa, Diego, Basurte, Mayte, Palomino-Doza, Julian, Villacorta, Eduardo, Bilinska, Zofia, Limeres Freire, Javier, Garcia Pinilla, José M., Barriales-Villa, Roberto, Fatkin, Diane, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Gimeno, Juan R., Mogensen, Jens, Monserrat, Lorenzo, and Elliott, Perry M.

Published
2020
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6. Unlocking Predictive Power: A Machine Learning Tool Derived from In-Depth Analysis to Forecast the Impact of Missense Variants in Human Filamin C

Author

Nagy, Michael, primary, Mlynek, Georg, additional, Kostan, Julius, additional, Smith, Luke, additional, Puehringe, Dominic, additional, Charron, Philippe, additional, Rasmussen, Torsten Bloch, additional, Bilinska, Zofia, additional, Akhtar, Mohammed Majid, additional, Syrris, Petros, additional, Lopes, Luis R, additional, Elliott, Perry M, additional, Gautel, Mathias, additional, Carugo, Oliviero, additional, and Djinovic-Carugo, Kristina, additional

Published
2023
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7. Risks of ventricular arrhythmia and heart failure in carriers of RBM20 variants

Author

Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., Elliott, Perry M., Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., and Elliott, Perry M.

Abstract

[Abstract] Background: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in RBM20 variant carriers and the impact of sex on outcomes. Methods: Consecutive probands and relatives carrying RBM20 variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and men and women compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined. RBM20 variant carriers with left ventricular systolic dysfunction (RBM20LVSD) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction. Results: Longitudinal follow-up data were available for 143 RBM20 variant carriers (71 men; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between men and women (log-rank P=0.07 and P=0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 men and 3 women; log-rank P<0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF >35%. At 5 years, 15 of 67 (22.4%) RBM20LVSD versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank P<0.001). RBM20 variant carriage conferred a 6.0-fold increase in risk of the primary end point. Conclusions: RBM20 variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female RBM20 variant carriers is similar, but male sex is strongly associated with ESHF.

Published
2023

8. Natural History of MYH7-Related Dilated Cardiomyopathy

Author

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

Published
2022
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9. Coronary Computed Tomographic Angiography for Prediction of Procedural and Intermediate Outcome of Bypass Grafting to Left Anterior Descending Artery Occlusion With Failed Visualization on Conventional Angiography

Author

Opolski, Maksymilian P., Kepka, Cezary, Achenbach, Stephan, Juraszynski, Zbigniew, Pregowski, Jerzy, Kruk, Mariusz, Niewada, Marcin, Jakubczyk, Michal, Teresinska, Anna, Chojnowska, Lidia, Bilinska, Zofia T., Dzielinska, Zofia, Demkow, Marcin, Ruzyllo, Witold, Chmielak, Zbigniew, and Witkowski, Adam

Published
2012
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10. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Author

Onderzoek Precision medicine, Circulatory Health, Child Health, Aios en Stafsecr. Cardiologie, Experimentele Afd. Cardiologie 2, Team Medisch, Onderzoek Cardiovasculair Reg. Med., Garnier, Sophie, Harakalova, Magdalena, Weiss, Stefan, Mokry, Michal, Regitz-Zagrosek, Vera, Hengstenberg, Christian, Cappola, Thomas P, Isnard, Richard, Arbustini, Eloisa, Cook, Stuart A, van Setten, Jessica, Calis, Jorg J A, Hakonarson, Hakon, Morley, Michael P, Stark, Klaus, Prasad, Sanjay K, Li, Jin, O'Regan, Declan P, Grasso, Maurizia, Müller-Nurasyid, Martina, Meitinger, Thomas, Empana, Jean-Philippe, Strauch, Konstantin, Waldenberger, Melanie, Marguiles, Kenneth B, Seidman, Christine E, Kararigas, Georgios, Meder, Benjamin, Haas, Jan, Boutouyrie, Pierre, Lacolley, Patrick, Jouven, Xavier, Erdmann, Jeanette, Blankenberg, Stefan, Wichter, Thomas, Ruppert, Volker, Tavazzi, Luigi, Dubourg, Olivier, Roizes, Gérard, Dorent, Richard, de Groote, Pascal, Fauchier, Laurent, Trochu, Jean-Noël, Aupetit, Jean-François, Bilinska, Zofia T, Germain, Marine, Völker, Uwe, Hemerich, Daiane, Raji, Ibticem, Bacq-Daian, Delphine, Proust, Carole, Remior, Paloma, Gomez-Bueno, Manuel, Lehnert, Kristin, Maas, Renee, Olaso, Robert, Saripella, Ganapathi Varma, Felix, Stephan B, McGinn, Steven, Duboscq-Bidot, Laëtitia, van Mil, Alain, Besse, Céline, Fontaine, Vincent, Blanché, Hélène, Ader, Flavie, Keating, Brendan, Curjol, Angélique, Boland, Anne, Komajda, Michel, Cambien, François, Deleuze, Jean-François, Dörr, Marcus, Asselbergs, Folkert W, Villard, Eric, Trégouët, David-Alexandre, Charron, Philippe, Maas, Renee GC, Onderzoek Precision medicine, Circulatory Health, Child Health, Aios en Stafsecr. Cardiologie, Experimentele Afd. Cardiologie 2, Team Medisch, Onderzoek Cardiovasculair Reg. Med., Garnier, Sophie, Harakalova, Magdalena, Weiss, Stefan, Mokry, Michal, Regitz-Zagrosek, Vera, Hengstenberg, Christian, Cappola, Thomas P, Isnard, Richard, Arbustini, Eloisa, Cook, Stuart A, van Setten, Jessica, Calis, Jorg J A, Hakonarson, Hakon, Morley, Michael P, Stark, Klaus, Prasad, Sanjay K, Li, Jin, O'Regan, Declan P, Grasso, Maurizia, Müller-Nurasyid, Martina, Meitinger, Thomas, Empana, Jean-Philippe, Strauch, Konstantin, Waldenberger, Melanie, Marguiles, Kenneth B, Seidman, Christine E, Kararigas, Georgios, Meder, Benjamin, Haas, Jan, Boutouyrie, Pierre, Lacolley, Patrick, Jouven, Xavier, Erdmann, Jeanette, Blankenberg, Stefan, Wichter, Thomas, Ruppert, Volker, Tavazzi, Luigi, Dubourg, Olivier, Roizes, Gérard, Dorent, Richard, de Groote, Pascal, Fauchier, Laurent, Trochu, Jean-Noël, Aupetit, Jean-François, Bilinska, Zofia T, Germain, Marine, Völker, Uwe, Hemerich, Daiane, Raji, Ibticem, Bacq-Daian, Delphine, Proust, Carole, Remior, Paloma, Gomez-Bueno, Manuel, Lehnert, Kristin, Maas, Renee, Olaso, Robert, Saripella, Ganapathi Varma, Felix, Stephan B, McGinn, Steven, Duboscq-Bidot, Laëtitia, van Mil, Alain, Besse, Céline, Fontaine, Vincent, Blanché, Hélène, Ader, Flavie, Keating, Brendan, Curjol, Angélique, Boland, Anne, Komajda, Michel, Cambien, François, Deleuze, Jean-François, Dörr, Marcus, Asselbergs, Folkert W, Villard, Eric, Trégouët, David-Alexandre, Charron, Philippe, and Maas, Renee GC

Published
2021

13. Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

Author

Gupta, Pallavi, Bilinska, Zofia T., Sylvius, Nicolas, Boudreau, Emilie, Veinot, John P., Labib, Sarah, Bolongo, Pierrette M., Hamza, Akil, Jackson, Tracy, Ploski, Rafal, Walski, Michal, Grzybowski, Jacek, Walczak, Ewa, Religa, Grzegorz, Fidzianska, Anna, and Tesson, Frédérique

Published
2010
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14. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Author

Garnier, Sophie, primary, Harakalova, Magdalena, additional, Weiss, Stefan, additional, Mokry, Michal, additional, Regitz-Zagrosek, Vera, additional, Hengstenberg, Christian, additional, Cappola, Thomas P, additional, Isnard, Richard, additional, Arbustini, Eloisa, additional, Cook, Stuart A, additional, van Setten, Jessica, additional, Calis, Jorg J A, additional, Hakonarson, Hakon, additional, Morley, Michael P, additional, Stark, Klaus, additional, Prasad, Sanjay K, additional, Li, Jin, additional, O'Regan, Declan P, additional, Grasso, Maurizia, additional, Müller-Nurasyid, Martina, additional, Meitinger, Thomas, additional, Empana, Jean-Philippe, additional, Strauch, Konstantin, additional, Waldenberger, Melanie, additional, Marguiles, Kenneth B, additional, Seidman, Christine E, additional, Kararigas, Georgios, additional, Meder, Benjamin, additional, Haas, Jan, additional, Boutouyrie, Pierre, additional, Lacolley, Patrick, additional, Jouven, Xavier, additional, Erdmann, Jeanette, additional, Blankenberg, Stefan, additional, Wichter, Thomas, additional, Ruppert, Volker, additional, Tavazzi, Luigi, additional, Dubourg, Olivier, additional, Roizes, Gérard, additional, Dorent, Richard, additional, de Groote, Pascal, additional, Fauchier, Laurent, additional, Trochu, Jean-Noël, additional, Aupetit, Jean-François, additional, Bilinska, Zofia T, additional, Germain, Marine, additional, Völker, Uwe, additional, Hemerich, Daiane, additional, Raji, Ibticem, additional, Bacq-Daian, Delphine, additional, Proust, Carole, additional, Remior, Paloma, additional, Gomez-Bueno, Manuel, additional, Lehnert, Kristin, additional, Maas, Renee, additional, Olaso, Robert, additional, Saripella, Ganapathi Varma, additional, Felix, Stephan B, additional, McGinn, Steven, additional, Duboscq-Bidot, Laëtitia, additional, van Mil, Alain, additional, Besse, Céline, additional, Fontaine, Vincent, additional, Blanché, Hélène, additional, Ader, Flavie, additional, Keating, Brendan, additional, Curjol, Angélique, additional, Boland, Anne, additional, Komajda, Michel, additional, Cambien, François, additional, Deleuze, Jean-François, additional, Dörr, Marcus, additional, Asselbergs, Folkert W, additional, Villard, Eric, additional, Trégouët, David-Alexandre, additional, and Charron, Philippe, additional

Published
2021
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15. ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

Author

Helio, Tiina, Elliott, Perry, Koskenvuo, Juha W., Gimeno, Juan R., Tavazzi, Luigi, Tendera, Michal, Kaski, Juan Pablo, Mansencal, Nicolas, Bilinska, Zofia, Carr-White, Gerry, Damy, Thibaud, Frustaci, Andrea, Kindermann, Ingrid, Ripoll-Vera, Tomas, Celutkiene, Jelena, Axelsson, Anna, Lorenzini, Massimiliano, Saad, Aly, Maggioni, Aldo P., Laroche, Cecile, Caforio, Alida L. P., Charron, Philippe, EORP Cardiomyopathy Registry Inves, University of Helsinki, University College of London [London] (UCL), Silesian Medical University, Katowice, Poland, Great Ormond Street Hospital for Children [London] (GOSH), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Cardinal Stefan Wyszyński University, CHU Henri Mondor, Universität des Saarlandes [Saarbrücken], Vilnius University [Vilnius], IT University of Copenhagen, Zagazig University, Universita degli Studi di Padova, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), HUS Heart and Lung Center, Department of Medicine, Kardiologian yksikkö, and Helsinki University Hospital Area

Subjects
Adult, medicine.medical_specialty, Registry, Genetic testing, Cardiomyopathy, Disease-causing variant, Genetic counseling, Disease‐causing variant, [SDV]Life Sciences [q-bio], Genetic Counseling, 030204 cardiovascular system & hematology, DIAGNOSIS, GUIDELINES, Right ventricular cardiomyopathy, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Diseases of the circulatory (Cardiovascular) system, cardiomyopathy, disease-causing variant, genetic counselling, genetic testing, mutation, registry, 030212 general & internal medicine, Prospective Studies, Registries, POSITION STATEMENT, Genetic counselling, medicine.diagnostic_test, HYPERTROPHIC CARDIOMYOPATHY, business.industry, Mutation, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, WORKING GROUP, Dilated cardiomyopathy, medicine.disease, DILATED CARDIOMYOPATHY, EUROPEAN-SOCIETY, 3. Good health, Europe, 3121 General medicine, internal medicine and other clinical medicine, RC666-701, Cardiology and Cardiovascular Medicine, business, Cardiomyopathies
Abstract

Aims Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. We assessed the current practice of genetic counselling and testing in the prospective European Society of Cardiology EURObservational Research Programme Cardiomyopathy Registry. Methods and results A total of 3208 adult patients from 69 centres in 18 countries were enrolled. Genetic counselling was performed in 60.8% of all patients [75.4% in hypertrophic cardiomyopathy (HCM), 39.2% in dilated cardiomyopathy (DCM), 70.8% in arrhythmogenic right ventricular cardiomyopathy (ARVC), and 49.2% in restrictive cardiomyopathy (RCM),P < 0.001]. Comparing European geographical areas, genetic counselling was performed from 42.4% to 83.3% (P < 0.001). It was provided by a cardiologist (85.3%), geneticist (15.1%), genetic counsellor (11.3%), or a nurse (7.5%) (P < 0.001). Genetic testing was performed in 37.3% of all patients (48.8% in HCM, 18.6% in DCM, 55.6% in ARVC, and 43.6% in RCM,P < 0.001). Index patients with genetic testing were younger at diagnosis and had more familial disease, family history of sudden cardiac death, or implanted cardioverter defibrillators but less co-morbidities than those not tested (P < 0.001 for each comparison). At least one disease-causing variant was found in 41.7% of index patients with genetic testing (43.3% in HCM, 33.3% in DCM, 51.4% in ARVC, and 42.9% in RCM,P = 0.13). Conclusions This is the first detailed report on the real-life practice of genetic counselling and testing in cardiomyopathies in Europe. Genetic counselling and testing were performed in a substantial proportion of patients but less often than recommended by European guidelines and much less in DCM than in HCM and ARVC, despite evidence for genetic background., This work was supported by Abbott Vascular International (2011-2021), Amgen Cardiovascular (2009-2018), AstraZeneca (2014-2021), Bayer AG (2009-2018), Boehringer Ingelheim (2009-2019), Boston Scientific (2009-2012), The Bristol Myers Squibb and Pfizer Alliance (2011-2019), Daiichi Sankyo Europe GmbH (2011-2020), The Alliance Daiichi Sankyo Europe GmbH and Eli Lilly and Company (2014-2017), Edwards (2016-2019), Gedeon Richter Plc. (2014-2016), Menarini Int. Op. (2009-2012), MSD-Merck & Co. (2011-2014), Novartis Pharma AG (2014-2020), ResMed (2014-2016), Sanofi (2009-2011), Servier (2009-2021), and Vifor (2019-2022). Funders had no role in the study design, data analyses, and manuscript drafting.

Published
2020

16. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Author

Onderzoek Precision medicine, Team Medisch, Circulatory Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Lopez-Sainz, Angela, Dominguez, Fernando, Lopes, Luis Rocha, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Climent, Vicente, Linschoten, Marijke, Tiron, Coloma, Chiriatti, Chiara, Marques, Nuno, Rasmussen, Torsten B, Espinosa, María Ángeles, Beinart, Roy, Quarta, Giovanni, Cesar, Sergi, Field, Ella, Garcia-Pinilla, Jose M, Bilinska, Zofia, Muir, Alison R, Roberts, Angharad M, Santas, Enrique, Zorio, Esther, Peña-Peña, Maria Luisa, Navarro, Marina, Fernandez, Adrian, Palomino-Doza, Julian, Azevedo, Olga, Lorenzini, Massimiliano, García-Álvarez, Maria I, Bento, Dina, Jensen, Morten K, Méndez, Irene, Pezzoli, Laura, Sarquella-Brugada, Georgia, Campuzano, Oscar, Gonzalez-Lopez, Esther, Mogensen, Jens, Kaski, Juan Pablo, Arad, Michael, Brugada, Ramon, Asselbergs, Folkert W, Monserrat, Lorenzo, Olivotto, Iacopo, Elliott, Perry M, Garcia-Pavia, Pablo, European Genetic Cardiomyopathies Initiative Investigators, Onderzoek Precision medicine, Team Medisch, Circulatory Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Lopez-Sainz, Angela, Dominguez, Fernando, Lopes, Luis Rocha, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Climent, Vicente, Linschoten, Marijke, Tiron, Coloma, Chiriatti, Chiara, Marques, Nuno, Rasmussen, Torsten B, Espinosa, María Ángeles, Beinart, Roy, Quarta, Giovanni, Cesar, Sergi, Field, Ella, Garcia-Pinilla, Jose M, Bilinska, Zofia, Muir, Alison R, Roberts, Angharad M, Santas, Enrique, Zorio, Esther, Peña-Peña, Maria Luisa, Navarro, Marina, Fernandez, Adrian, Palomino-Doza, Julian, Azevedo, Olga, Lorenzini, Massimiliano, García-Álvarez, Maria I, Bento, Dina, Jensen, Morten K, Méndez, Irene, Pezzoli, Laura, Sarquella-Brugada, Georgia, Campuzano, Oscar, Gonzalez-Lopez, Esther, Mogensen, Jens, Kaski, Juan Pablo, Arad, Michael, Brugada, Ramon, Asselbergs, Folkert W, Monserrat, Lorenzo, Olivotto, Iacopo, Elliott, Perry M, Garcia-Pavia, Pablo, and European Genetic Cardiomyopathies Initiative Investigators

Published
2020

17. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Author

Lopez-Sainz, Angela, primary, Dominguez, Fernando, additional, Lopes, Luis Rocha, additional, Ochoa, Juan Pablo, additional, Barriales-Villa, Roberto, additional, Climent, Vicente, additional, Linschoten, Marijke, additional, Tiron, Coloma, additional, Chiriatti, Chiara, additional, Marques, Nuno, additional, Rasmussen, Torsten B., additional, Espinosa, María Ángeles, additional, Beinart, Roy, additional, Quarta, Giovanni, additional, Cesar, Sergi, additional, Field, Ella, additional, Garcia-Pinilla, Jose M., additional, Bilinska, Zofia, additional, Muir, Alison R., additional, Roberts, Angharad M., additional, Santas, Enrique, additional, Zorio, Esther, additional, Peña-Peña, Maria Luisa, additional, Navarro, Marina, additional, Fernandez, Adrian, additional, Palomino-Doza, Julian, additional, Azevedo, Olga, additional, Lorenzini, Massimiliano, additional, García-Álvarez, Maria I., additional, Bento, Dina, additional, Jensen, Morten K., additional, Méndez, Irene, additional, Pezzoli, Laura, additional, Sarquella-Brugada, Georgia, additional, Campuzano, Oscar, additional, Gonzalez-Lopez, Esther, additional, Mogensen, Jens, additional, Kaski, Juan Pablo, additional, Arad, Michael, additional, Brugada, Ramon, additional, Asselbergs, Folkert W., additional, Monserrat, Lorenzo, additional, Olivotto, Iacopo, additional, Elliott, Perry M., additional, Garcia-Pavia, Pablo, additional, Barriales, Roberto, additional, Larrañaga-Moreira, Jose María, additional, Alonso-García, Diego, additional, Cárdenas-Reyes, Ivonne Johana, additional, Cicerchia, Marcos, additional, García-Ferro, German, additional, García-Hernández, Soledad, additional, Nöel-Bröger, María, additional, Ortiz, Martin, additional, Azevedo, Pedro, additional, Bispo, João, additional, Mota, Teresa, additional, Fernandes, Raquel, additional, Costa, Hugo, additional, Doza, Julian Palomino, additional, Salguero-Bodes, Rafael, additional, Valverde-Gomez, Maria, additional, Espinosa, Maria Angeles, additional, Mendez, Irene, additional, Cobo-Marcos, Marta, additional, Domínguez, Fernando, additional, Escobar, Luis, additional, González-López, Esther, additional, López-Sainz, Ángela, additional, Segovia-Cubero, Javier, additional, Vilches, Silvia, additional, Garcia-Pinilla, Jose Manuel, additional, Robles-Mezcua, Ainhoa, additional, López-Garrido, Miguel, additional, Hidalgo, Luis Morcillo, additional, Abad, Victoria Doncel, additional, Sabater-Molina, Maria, additional, Gimeno-Blanes, Juan Ramón, additional, Barton, Paul J., additional, Cook, Stuart A., additional, Ware, James S., additional, Syrris, Petros, additional, Truszkowska, Grażyna, additional, Michalak, Ewa, additional, Ploski, Rafal, additional, Bilińska, Zofia, additional, Asselbergs, Folkert, additional, Baas, Annette F., additional, and Dooijes, Dennis, additional

Published
2020
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18. Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Author

Chmielewski, Przemyslaw, primary, Michalak, Ewa, additional, Kowalik, Ilona, additional, Franaszczyk, Maria, additional, Sobieszczanska-Malek, Malgorzata, additional, Truszkowska, Grazyna, additional, Stepien-Wojno, Malgorzata, additional, Biernacka, Elzbieta Katarzyna, additional, Foss-Nieradko, Bogna, additional, Lewandowski, Michal, additional, Oreziak, Artur, additional, Bilinska, Maria, additional, Kusmierczyk, Mariusz, additional, Tesson, Frédérique, additional, Grzybowski, Jacek, additional, Zielinski, Tomasz, additional, Ploski, Rafal, additional, and Bilinska, Zofia T., additional

Published
2020
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19. Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

Author

Franaszczyk, Maria, primary, Truszkowska, Grazyna, additional, Chmielewski, Przemyslaw, additional, Rydzanicz, Malgorzata, additional, Kosinska, Joanna, additional, Rywik, Tomasz, additional, Biernacka, Anna, additional, Spiewak, Mateusz, additional, Kostrzewa, Grazyna, additional, Stepien-Wojno, Malgorzata, additional, Stawinski, Piotr, additional, Bilinska, Maria, additional, Krajewski, Pawel, additional, Zielinski, Tomasz, additional, Lutynska, Anna, additional, Bilinska, Zofia T., additional, and Ploski, Rafal, additional

Published
2020
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21. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

Author

Charron, Philippe, Arad, Michael, Arbustini, Eloisa, Basso, Cristina, Bilinska, Zofia, Elliott, Perry, Helio, Tiina, Keren, Andre, McKenna, William J., Monserrat, Lorenzo, Pankuweit, Sabine, Perrot, Andreas, Rapezzi, Claudio, Ristic, Arsen, Seggewiss, Hubert, van Langen, Irene, and Tavazzi, Luigi

Published
2010
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22. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies

Author

Charron, Philippe, Elliott, Perry M, Gimeno, Juan R, Caforio, Alida L P, Kaski, Juan Pablo, Tavazzi, Luigi, Tendera, Michal, Maupain, Carole, Laroche, Cécile, Rubis, Pawel, Jurcut, Ruxandra, Calò, Leonardo, Heliö, Tiina M, Sinagra, Gianfranco, Zdravkovic, Marija, Kavoliūnienė, Aušra, Felix, Stephan B, Grzybowski, Jacek, Losi, Maria-Angela, Asselbergs, Folkert W, García-Pinilla, José Manuel, Salazar-Mendiguchia, Joel, Mizia-Stec, Katarzyna, Maggioni, Aldo P, Anastasakis, Aris, Biagini, Elena, Bilinska, Zofia, Castro, Francisco Jose, Celutkiene, Jelena, Chakova, Natalija, Chmielewski, Przemyslaw, Drago, Fabrizio, Frigy, Attila, Frustaci, Andrea, Garcia-Pavia, Pablo, Hinic, Sasa, Kindermann, Ingrid, Limongelli, Giuseppe, Medrano, Constancio, Monserrat, Lorenzo, Olusegun-Joseph, Akinsanya, Ripoll-Vera, Tomas, Rocha Lopes, Luis, Saad, Aly, Sala, Simone, Seferovic, Petar M, Sepp, Robert, Urbano-Moral, Jose Angel, Villacorta, Eduardo, Wybraniec, Maciej, Yotti, Raquel, Zachara, Elisabetta, Zorio, Esther, Charron, P., Elliott, P. M., Gimeno, J. R., Caforio, A. L. P., Kaski, J. P., Tavazzi, L., Tendera, M., Maupain, C., Laroche, C., Rubis, P., Jurcut, R., Calo, L., Helio, T. M., Sinagra, G., Zdravkovic, M., Kavoliuniene, A., Felix, S. B., Grzybowski, J., Losi, M. A., Asselbergs, F. W., Garcia-Pinilla, J. M., Salazar-Mendiguchia, J., Mizia-Stec, K., Maggioni, A. P., Anastasakis, A., Biagini, E., Bilinska, Z., Castro, F. J., Celutkiene, J., Chakova, N., Chmielewski, P., Drago, F., Frigy, A., Frustaci, A., Garcia-Pavia, P., Hinic, S., Kindermann, I., Limongelli, G., Medrano, C., Monserrat, L., Olusegun-Joseph, A., Ripoll-Vera, T., Lopes, L. R., Saad, A., Sala, S., Seferovic, P. M., Sepp, R., Urbano-Moral, J. A., Villacorta, E., Wybraniec, M., Yotti, R., Zachara, E., Zorio, E., Charron, Philippe, Elliott, Perry M., Gimeno, Juan R., Caforio, Alida L. P., Kaski, Juan Pablo, Tavazzi, Luigi, Tendera, Michal, Maupain, Carole, Laroche, Cécile, Rubis, Pawel, Jurcut, Ruxandra, Calò, Leonardo, Heliö, Tiina M., Sinagra, Gianfranco, Zdravkovic, Marija, Kavoliuniene, Aušra, Felix, Stephan B., Grzybowski, Jacek, Losi, Maria-Angela, Asselbergs, Folkert W., García-Pinilla, José Manuel, Salazar-Mendiguchia, Joel, Mizia-Stec, Katarzyna, Maggioni, Aldo P., Anastasakis, Ari, Biagini, Elena, Bilinska, Zofia, Castro, Francisco Jose, Celutkiene, Jelena, Chakova, Natalija, Chmielewski, Przemyslaw, Drago, Fabrizio, Frigy, Attila, Frustaci, Andrea, Garcia-Pavia, Pablo, Hinic, Sasa, Kindermann, Ingrid, Limongelli, Giuseppe, Medrano, Constancio, Monserrat, Lorenzo, Olusegun-Joseph, Akinsanya, Ripoll-Vera, Toma, Lopes, Luis Rocha, Saad, Aly, Sala, Simone, Seferovic, Petar M., Sepp, Robert, Urbano-Moral, Jose Angel, Villacorta, Eduardo, Wybraniec, Maciej, Yotti, Raquel, Zachara, Elisabetta, Zorio, Esther, Charron, P, Elliott, Pm, Gimeno, Jr, Caforio, Alp, Kaski, Jp, Tavazzi, L, Tendera, M, Maupain, C, Laroche, C, Rubis, P, Jurcut, R, Calò, L, Heliö, Tm, Sinagra, G, Zdravkovic, M, Kavoliuniene, A, Felix, Sb, Grzybowski, J, Losi, Ma, Asselbergs, Fw, García-Pinilla, Jm, Salazar-Mendiguchia, J, Mizia-Stec, K, and Maggioni, Ap

Subjects
Male, Cardiomyopathy, 030204 cardiovascular system & hematology, Defibrillator, 0302 clinical medicine, Dilated, Age Factor, 030212 general & internal medicine, Prospective Studies, Registries, Prospective cohort study, Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathy, Restrictive, adult, Hypertrophic cardiomyopathy, Age Factors, Disease Management, Dilated cardiomyopathy, Middle Aged, Magnetic Resonance Imaging, 3. Good health, Arrhythmogenic right ventricular dysplasia, Europe, Arrhythmogenic right ventricular, Female, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Human, Adult, Cardiomyopathy, Dilated, Registry, medicine.medical_specialty, Cardiomyopathies, adult, Restrictive, Context (language use), Right ventricular cardiomyopathy, 03 medical and health sciences, Internal medicine, medicine, Humans, Cardiomyopathie, business.industry, Restrictive cardiomyopathy, Cardiomyopathy, Hypertrophic, medicine.disease, Prospective Studie, Hypertrophic, business, Defibrillators
Abstract

Aims The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. ................................................................................................................................................................................................... Methods and results A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]. Differences between cardiomyopathy subtypes (P < 0.001) were observed for age at diagnosis, history of familial disease, history of sustained ventricular arrhythmia, use of magnetic resonance imaging or genetic testing, and implantation of defibrillators. When compared with probands, relatives had a lower age at diagnosis (P < 0.001), but a similar rate of symptoms and defibrillators. When compared with the Long-Term phase, patients of the Pilot phase (enrolled in more expert centres) had a more frequent rate of familial disease (P < 0.001), were more frequently diagnosed with a rare underlying disease (P < 0.001), and more frequently implanted with a defibrillator (P = 0.023). Comparing four geographical areas, patients from Southern Europe had a familial disease more frequently (P < 0.001), were more frequently diagnosed in the context of a family screening (P < 0.001), and more frequently diagnosed with a rare underlying disease (P < 0.001). ................................................................................................................................................................................................... Conclusion By providing contemporary observational data on characteristics and management of patients with cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.

Published
2018

28. What do tachycardiomyopathy belong to?

Author

Elliott, Perry, Andersson, Bert, Arbustini, Eloisa, Bilinska, Zofia, Cecchi, Franco, Charron, Philippe, Dubourg, Olivier, Kühl, Uwe, Maisch, Bernhard, McKenna, William J., Monserrat, Lorenzo, Pankuweit, Sabine, Rapezzi, Claudio, Seferovic, Petar, Tavazzi, Luigi, and Keren, Andre

Published
2008

31. Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.

Author

Restrepo‐Cordoba, Maria A., Wahbi, Karim, Florian, Anca R., Jiménez‐Jáimez, Juan, Politano, Luisa, Arad, Michael, Climent‐Paya, Vicente, Garcia‐Alvarez, Ana, Hansen, Rasmus B., Larrañaga‐Moreira, José M., Kubanek, Milos, Lopes, Luis R., Ros, Andrea, Jurcut, Ruxandra, Rasmussen, Torsten B., Ruiz‐Guerrero, Luis, Pribe‐Wolferts, Regina, Palomino‐Doza, Julian, Bilinska, Zofia, and Rodríguez‐Palomares, José F.

Subjects
TREATMENT effectiveness, DILATED cardiomyopathy, VENTRICULAR arrhythmia, CARDIAC arrest, MUSCLE diseases, DYSTROPHIN genes, HEART failure, LEFT heart ventricle, RESEARCH, MUSCLE proteins, RESEARCH methodology, RETROSPECTIVE studies, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, DISEASE prevalence, STROKE volume (Cardiac output), HEART physiology
Abstract

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy.Methods and Results: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5-311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up.Conclusions: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy. [ABSTRACT FROM AUTHOR]

Published
2021
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33. Dilated cardiomyopathy due to BLC2-associated athanogene 3 (BAG3) mutations

Author

Instituto de Salud Carlos III, Fundación Progreso y Salud, Ministerio de Economía y Competitividad (España), Mutual Médica, European Research Area Network on Cardiovascular Diseases, British Heart Foundation, Wellcome Trust, National Institute for Health Research (UK), Danish Heart Foundation, University of Southern Denmark, Odense University Hospital, Competence Network for Heart Failure (Germany), Dutch Heart Foundation, European Commission, Health In Code, Domínguez, Fernando, Cuenca, Sofía, Bilinska, Zofia, Toro, Rocío, Villard, Eric, Barriales-Villa, Roberto, Ochoa, Juan Pablo, Asselbergs, Folkert, Sammani, Arjan, Franaszczyk, Maria, Akhtar, Muhammad N., Coronado-Albi, Maria José, Rangel-Sousa, Diego, Rodriguez-Palomares, Jose F., Jiménez-Jáimez, Juan, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomás, Mogollón-Jiménez, Maria Victoria, Fontalba-Romero, Ana, Garcia-Medina, Dolores, Palomino-Doza, Julian, Gonzalo-Calvo, David de, Cicerchia, Marcos, Salazar-Mendiguchia, Joel, Salas, Clara, Pankuweit, Sabine, Morris Hey, Thomas, Mogensen, Jens, Barton, Paul J., Charron, Philippe, Elliott, Perry, García-Pavía, Pablo, Instituto de Salud Carlos III, Fundación Progreso y Salud, Ministerio de Economía y Competitividad (España), Mutual Médica, European Research Area Network on Cardiovascular Diseases, British Heart Foundation, Wellcome Trust, National Institute for Health Research (UK), Danish Heart Foundation, University of Southern Denmark, Odense University Hospital, Competence Network for Heart Failure (Germany), Dutch Heart Foundation, European Commission, Health In Code, Domínguez, Fernando, Cuenca, Sofía, Bilinska, Zofia, Toro, Rocío, Villard, Eric, Barriales-Villa, Roberto, Ochoa, Juan Pablo, Asselbergs, Folkert, Sammani, Arjan, Franaszczyk, Maria, Akhtar, Muhammad N., Coronado-Albi, Maria José, Rangel-Sousa, Diego, Rodriguez-Palomares, Jose F., Jiménez-Jáimez, Juan, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomás, Mogollón-Jiménez, Maria Victoria, Fontalba-Romero, Ana, Garcia-Medina, Dolores, Palomino-Doza, Julian, Gonzalo-Calvo, David de, Cicerchia, Marcos, Salazar-Mendiguchia, Joel, Salas, Clara, Pankuweit, Sabine, Morris Hey, Thomas, Mogensen, Jens, Barton, Paul J., Charron, Philippe, Elliott, Perry, and García-Pavía, Pablo

Abstract

[Background] The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. [Objectives] This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort. [Methods] The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry. [Results] At first evaluation, 57.4% of patients had DCM. After a median follow-up of 38 months (interquartile range: 7 to 95 months), 68.4% of patients had DCM and 26.1% who were initially phenotype-negative developed DCM. Disease penetrance in individuals >40 years of age was 80% at last evaluation, and there was a trend towards an earlier onset of DCM in men (age 34.6 ± 13.2 years vs. 40.7 ± 12.2 years; p = 0.053). The incidence of adverse cardiac events (death, left ventricular assist device, heart transplantation, and sustained ventricular arrhythmia) was 5.1% per year among individuals with DCM. Male sex, decreased left ventricular ejection fraction. and increased left ventricular end-diastolic diameter were associated with adverse cardiac events. Myocardial tissue from patients with a BAG3 mutation showed myofibril disarray and a relocation of BAG3 protein in the sarcomeric Z-disc. [Conclusions] DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure. Male sex, decreased left ventricular ejection fraction, and enlarged left ventricular end-diastolic diameter are associated with adverse outcomes in patients with BAG3 mutations.

Published
2018

34. Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure

Author

Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Pavlou, Menelaos, Ochoa, Juan Pablo, O’Mahony, Constantinos, Restrepo-Cordoba, Maria Alejandra, Segura-Rodriguez, Diego, Bermúdez-Jiménez, Francisco, Molina, Pilar, Cuenca, Sofia, Ader, Flavie, Larrañaga-Moreira, Jose M., Sabater-Molina, Maria, Garcia-Alvarez, Maria I., Arantzamendi, Larraitz Gaztañaga, Truszkowska, Grazyna, Ortiz-Genga, Martin, Ruiz, Itziar Solla, Nielsen, Søren Kristian, Rasmussen, Torsten Bloch, Robles Mezcua, Ainhoa, Alvarez-Rubio, Jorge, Eiskjaer, Hans, Gautel, Mathias, Garcia-Pinilla, José M., Ripoll-Vera, Tomas, Mogensen, Jens, Limeres Freire, Javier, Rodríguez-Palomares, Jose F., Peña-Peña, Maria Luisa, Rangel-Sousa, Diego, Palomino-Doza, Julian, Arana Achaga, Xabier, Bilinska, Zofia, Zamarreño Golvano, Estibaliz, Climent, Vincent, Peñalver, Marina Navarro, Barriales-Villa, Roberto, Charron, Philippe, Yotti, Raquel, Zorio, Esther, Jiménez-Jáimez, Juan, Garcia-Pavia, Pablo, and Elliott, Perry M.

Abstract

IMPORTANCE: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia. OBJECTIVE: To determine the frequency of and risk factors associated with adverse events among FLNCtv carriers compared with individuals carrying TTN truncating variants (TTNtv). DESIGN, SETTING, AND PARTICIPANTS: This cohort study recruited 167 consecutive FLNCtv carriers and a control cohort of 244 patients with TTNtv matched for left ventricular ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 and 2018. Data analyses were conducted between June and October, 2020. MAIN OUTCOMES AND MEASURES: The primary end point was a composite of malignant ventricular arrhythmia (MVA) (sudden cardiac death, aborted sudden cardiac death, appropriate implantable cardioverter-defibrillator shock, and sustained ventricular tachycardia) and end-stage heart failure (heart transplant or mortality associated with end-stage heart failure). The secondary end point comprised MVA events only. RESULTS: In total, 167 patients with FLNCtv were studied (55 probands [33%]; 89 men [53%]; mean [SD] age at baseline evaluation, 43 [18] years). For a median follow-up of 20 months (interquartile range, 7-60 months), 29 patients (17.4%) reached the primary end point (19 patients with MVA and 10 patients with end-stage heart failure). Eight (44%) arrhythmic events occurred among individuals with baseline mild to moderate left ventricular systolic dysfunction (LVSD) (LVEF = 36%-49%). Univariable risk factors associated with the primary end point included proband status, LVEF decrement per 10%, ventricular ectopy (≥500 in 24 hours) and myocardial fibrosis detected on cardiac magnetic resonance imaging. The LVEF decrement (hazard ratio [HR] per 10%, 1.83 [95% CI, 1.30-2.57]; P &lt; .001) and proband status (HR, 3.18 [95% CI, 1.12-9.04]; P = .03) remained independent risk factors on multivariable analysis (excluding myocardial fibrosis and ventricular ectopy owing to case censoring). There was no difference in freedom from MVA between FLNCtv carriers with mild to moderate or severe (LVEF ≤35%) LVSD (HR, 1.29 [95% CI, 0.45-3.72]; P = .64). Carriers of FLNCtv with impaired LVEF at baseline evaluation (n = 69) had reduced freedom from MVA compared with 244 TTNtv carriers with similar baseline LVEF (for mild to moderate LVSD: HR, 16.41 [95% CI, 3.45-78.11]; P &lt; .001; for severe LVSD: HR, 2.47 [95% CI, 1.04-5.87]; P = .03). CONCLUSIONS AND RELEVANCE: The high frequency of MVA among patients with FLNCtv with mild to moderate LVSD suggests that higher LVEF values than those currently recommended should be considered for prophylactic implantable cardioverter-defibrillator therapy in FLNCtv carriers.

Published
2021
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35. A novel truncating variant in the gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family.

Author

Michalak, Ewa, Franaszczyk, Maria, Sobieszczanska-Malek, Malgorzata, Karcz, Maciej, Szymanska, Sylwia, Szczygiel, Justyna, Lutynska, Anna, Ploski, Rafal, and Bilinska, Zofia T.

Subjects
VENTRICULAR outflow obstruction, HYPERTROPHIC cardiomyopathy, YOUNG women, MEDICAL sciences, CONGENITAL heart disease, MEDICAL genetics
Published
2020
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37. Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations

Author

Franaszczyk, Maria, primary, Chmielewski, Przemyslaw, additional, Truszkowska, Grazyna, additional, Stawinski, Piotr, additional, Michalak, Ewa, additional, Rydzanicz, Malgorzata, additional, Sobieszczanska-Malek, Malgorzata, additional, Pollak, Agnieszka, additional, Szczygieł, Justyna, additional, Kosinska, Joanna, additional, Parulski, Adam, additional, Stoklosa, Tomasz, additional, Tarnowska, Agnieszka, additional, Machnicki, Marcin M., additional, Foss-Nieradko, Bogna, additional, Szperl, Malgorzata, additional, Sioma, Agnieszka, additional, Kusmierczyk, Mariusz, additional, Grzybowski, Jacek, additional, Zielinski, Tomasz, additional, Ploski, Rafal, additional, and Bilinska, Zofia T., additional

Published
2017
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38. Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

Author

Ploski, Rafal, primary, Rydzanicz, Malgorzata, additional, Ksiazczyk, Tomasz M., additional, Franaszczyk, Maria, additional, Pollak, Agnieszka, additional, Kosinska, Joanna, additional, Michalak, Ewa, additional, Stawinski, Piotr, additional, Ziolkowska, Lidia, additional, Bilinska, Zofia T., additional, and Werner, Bozena, additional

Published
2016
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41. The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

Author

Franaszczyk, Maria, primary, Bilinska, Zofia T, additional, Sobieszczańska-Małek, Małgorzata, additional, Michalak, Ewa, additional, Sleszycka, Justyna, additional, Sioma, Agnieszka, additional, Małek, Łukasz A, additional, Kaczmarska, Dorota, additional, Walczak, Ewa, additional, Włodarski, Paweł, additional, Hutnik, Łukasz, additional, Milanowska, Blanka, additional, Dzielinska, Zofia, additional, Religa, Grzegorz, additional, Grzybowski, Jacek, additional, Zieliński, Tomasz, additional, and Ploski, Rafal, additional

Published
2014
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42. Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

Author

Płoski, Rafał, primary, Pollak, Agnieszka, additional, Müller, Sonja, additional, Franaszczyk, Maria, additional, Michalak, Ewa, additional, Kosinska, Joanna, additional, Stawinski, Piotr, additional, Spiewak, Mateusz, additional, Seggewiss, Hubert, additional, and Bilinska, Zofia T., additional

Published
2014
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44. LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies

Author

Saj, Michal, primary, Bilinska, Zofia T, additional, Tarnowska, Agnieszka, additional, Sioma, Agnieszka, additional, Bolongo, Pierrette, additional, Sobieszczanska-Malek, Malgorzata, additional, Michalak, Ewa, additional, Golen, Dorota, additional, Mazurkiewicz, Lukasz, additional, Malek, Lukasz, additional, Walczak, Ewa, additional, Fidzianska, Anna, additional, Grzybowski, Jacek, additional, Przybylski, Andrzej, additional, Zielinski, Tomasz, additional, Korewicki, Jerzy, additional, Tesson, Frederique, additional, and Ploski, Rafal, additional

Published
2013
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49. Usefulness of 1H MR spectroscopy in the evaluation of myocardial metabolism in patients with dilated idiopathic cardiomyopathy: pilot study1.

Author

Walecki, Jerzy, Michalak, Malgorzata J., Michalak, Ewa, Bilinska, Zofia T., and Ruzyllo, Witold

Subjects
CARDIOMYOPATHIES, ECHOCARDIOGRAPHY, HEART metabolism, PROGNOSIS
Abstract

Rationale and Objectives. Primary dilated cardiomyopathy is a disease of unknown etiology, and it leads to severe heart failure. Abnormalities of the cardiac metabolism can play an important role in prognosis and influence the symptomatology in this group. The aim of this study was to assess cardiac metabolism using proton spectroscopy magnetic resonance (1H MRS) and to examine whether there is any correlation between cardiac metabolites and functional New York Heart Association (NYHA) class and left ventricular function parameters obtained in echocardiography.Materials and Methods. Fifteen patients with documented idiopathic dilated cardiomyopathy and 12 healthy volunteers were examined. The study protocol included clinical examination, 12-lead electrocardiogram, two-dimensional echocardiogram, and 1H MRS with voxel localized at interventricular septum area. The contents of total creatine (CR) ie, creatine + phosphocreatine, lipids (LIP), lactates (LAC) and their ratios (CR1A, CR2A, CR1/H20, CR2/H20, CR2/CR1, LIPA, LIP/H20, LIP/CR1, LACA, LAC/H20, LAC/CR1) were examined.Results. Patients with dilated cardiomyopathy had significantly lower levels of creatine CR1A (5.04 ± 0.88 vs 5.94 ± 1.15, P < .02) and ratios LIP/H20 (4.34 ± 2.3 vs 15.46 ± 20.39, P < .04) and LIP/CR1 (24.49 ± 21.26 vs 34.08 ± 13.36, P < .05) compared with healthy volunteers. Significant correlations between NYHA functional class and the ratios CR2/CR1, CR2/H20 (r = 0.59, P < .038, r = 0.59, P < .02, respectively) and between %LVEF and LIP/CR1 (r = 0.64, P < .036), as well as between the duration of the disease (TCH) and LIP/CR1 (r = 0.67, P < .046) were found.Conclusion. A pilot study with proton spectroscopy magnetic resonance showed impairment of the cardiac metabolism in patients with idiopathic dilated cardiomyopathy. A trend to lower values of creatine and lipids, and to lower ratios of some of these metabolites was observed in the dilated cardiomyopathy group compared with healthy subjects. The results require further study. [Copyright &y& Elsevier]

Published
2003
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50. List of Contributors

Author

Bilińska, Zofia T., Chojnicka, Izabela, Cogulu, Ozgur, de Oliveira, Silviene Fabiana, Demkow, Urszula, Durmaz, Asude, Durmaz, Burak, Glodkowska-Mrowka, Eliza, Gruca, Sławomir, Gulik, Krystian, Kochański, Andrzej, Kostera-Pruszczyk, Anna, Lantos, John D., Malhotra, Ankit, Malinowska, Iwona, Ołdak, Monika, Okoniewski, Michal, Owoc, Jacub, Płoski, Rafał, Plewczynski, Dariusz, Ponińska, Joanna, Sachidanandam, Ravi, Smigiel, Robert, Stawinski, Piotr, Stoklosa, Tomasz, Szałaj, Przemysław, Szczałuba, Krzysztof, Szymańska, Krystyna, Wiewiorka, Marek, and Wolańczyk, Tomasz

Published
2016
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