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22 results on '"Limeres Freire, Javier"'

1. Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo

Author

Arana-Achaga, Xabier, Goena-Vives, Cristina, Villanueva-Benito, Iñaki, Solla-Ruiz, Itziar, Rengel Jimenez, Ainhoa, Gaspar, Teresa Iglesias, Urreta-Barallobre, Iratxe, Barge-Caballero, Gonzalo, Seijas-Marcos, Sara, Cabrera, Eva, Garcia-Pavía, Pablo, Basurte Elorz, María Teresa, Ayestarán, Nerea Mora, Sierra, Lucas Tojal, Robledo Iñarritu, Maria, Lozano-Bahamonde, Ainara, Escolar-Perez, Vanesa, Gómez-Ramírez, Cristina, Alzola, Elisabete, Andrés, Rubén Natividad, Francisco Matias, Jose Luis, Limeres Freire, Javier, Armengou Arxe, Arola, Negre Busó, Montserrat, Piqueras-Flores, Jesus, Martínez-del Río, Jorge, Onaindia Gandarias, Jose Juan, Rodriguez Sanchez, Ibon, and Querejeta Iraola, Ramón

Published
2023
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2. Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital

Author

Carnicer-Cáceres, Clara, Villena-Ortiz, Yolanda, Castillo-Ribelles, Laura, Barquín-del-Pino, Raquel, Camprodon-Gomez, Maria, Felipe-Rucián, Ana, Moreno-Martínez, David, Lucas-del-Pozo, Sara, Hernández-Vara, Jorge, García-Serra, Anna, Tigri-Santiña, Ariadna, Moltó-Abad, Marc, Agraz-Pamplona, Irene, Rodriguez-Palomares, Jose F., Limeres-Freire, Javier, Macaya-Font, Marc, Rodríguez-Sureda, Victor, Miguel, Lucy Dougherty-De, del-Toro-Riera, Mireia, Pintos-Morell, Guillem, and Arranz-Amo, Jose Antonio

Published
2023
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4. Caracterización de la amiloidosis cardiaca hereditaria por transtirretina en España

Author

Álvarez Rubio, Jorge, Manovel Sánchez, Ana José, González-Costello, José, García-Pavía, Pablo, Limeres Freire, Javier, García-Pinilla, José Manuel, Zorio Grima, Esther, García-Álvarez, Ana, Valverde Gómez, María, Espinosa Castro, M. Ángeles, Barge-Caballero, Gonzalo, Gimeno Blanes, Juan Ramón, Bosch Rovira, María Teresa, Rincón Díaz, Luis Miguel, Aibar Arregui, Miguel Ángel, Gallego-Delgado, María, Jiménez-Jáimez, Juan, Martínez Moreno, Marina, Basurte, Mayte, Arana Achaga, Xabier, Hernández Baldomero, Idaira Famara, and Ripoll-Vera, Tomás

Published
2022
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5. Safety of the oral factor XIa inhibitor asundexian compared with apixaban in patients with atrial fibrillation (PACIFIC-AF): a multicentre, randomised, double-blind, double-dummy, dose-finding phase 2 study

Author

Auer, Johann, Hubauer, Martin, Pandzic, Sead, Preishuber, Eva, Primus-Grabscheit, Carina, Reitgruber, Dietmar, Schmalzer, Florian, Adlbrecht, Christopher, Schober, Andreas, Hajos, Johannes, Keil, Christoph, Schratter, Alexandra, Frick, Matthias, Benda, Magdalena Anna, Mächler, Maximilian, Mutschlechner, Beatrix, Saely, Christoph, Sprenger, Lukas, Lichtenauer, Michael, Eber, Miriam, Hoppe, Uta, Kolbitsch, Tobias, Jirak, Peter Michael, Mirna, Moritz, Schönbauer, Robert, Bergler-Klein, Jutta, Hengstenberg, Christian, Stojkovic, Stefan, Scherr, Daniel, Manninger-Wünscher, Martin, Rohrer, Ursula, Stühlinger, Markus, Schgoer, Wilfried, Schwarzl, Jana, Pürerfellner, Helmut, Derndorfer, Michael, Ebner, Christian, Eder, Veronika, Kollias, Georgios, Sturmberger, Thomas, Sieghartsleitner, Stefan, Vijgen, Johan, Koopman, Peter, Dujardin, Karl, Anné, Wim, De Ceuninck, Michel, Tavernier, Rene, Duytschaever, Mattias, Knecht, Sébastien, Missault, Luc, Vandekerckhove, Yves, Rossenbacker, Tom, Ector, Bavo, Charlier, Filip, Debruyne, Philippe, Dewilde, Willem, Janssens, Luc, Roosen, John, Vankelecom, Bart, Heidbuchel, Hein, Delesie, Michiel, Vervoort, Gert, Rombouts, Hans, Vanassche, Thomas, Engelen, Matthias, Verhamme, Peter, Willems, Rik, Constance, Christian, Pranno, Nicolas, Cox, Jafna, Bata, Iqbal, Macle, Laurent, Aguilar, Martin, Tourigny, Julia Cadrin, Dubuc, Marc, Dyrda, Katia, Guerra, Peter, Khairy, Paul, Mondésert, Blandine, Rivard, Léna, Roy, Denis, Tadros, Rafik, Talajic, Mario, Thibault, Bernard, Nault, Isabelle, Blier, Louis, Champagne, Jean, Molin, Franck, O'Hara, Gilles, Philippon, François, Plourde, Benoit, Sarrazin, Jean-François, Steinberg, Christian, Coufal, Zdenek, Balazsik, David, Mikulica, Michal, Zapeca, Jakub, Cermak, Ondrej, Drasnar, Tomas, Falc, Matej, Hornof, Josef, Racz, Blazej, Weissova, Danica, Linkova, Hana, Paskova, Eva, Petr, Robert, Sirakova, Andrea, Kettner, Jiri, Benak, Ales, Holek, Martin, Podpera, Ivo, Podperova, Monika, Vancura, Vlastimil, Jandik, Tomas, Smid, Jiri, Dedek, Vratislav, Banik, Jan, Durdil, Vaclav, Hnat, Tomas, Lellouche, Nicolas, Rouffiac, Ségolène, Taldir, Guillaume, Bridonneau, Valentin, Couffon, Philippe, Daudin, Magalie, Hamon, Cécile, Lacaze, Jonathan, Quentin, Anne, Thebault, Christophe, Boiffard, Emmanuel, Billon, Olivier, Miette, Fabien, Pouliquen, Hervé, Turlotte, Guillaume, Gorka, Hervé, Albert, Franck, Bayle, Sandrine, Bensaid, Reda, Dasoveanu, Madalina, Demichili, Thibaud, Dutoiu, Teodora, Khalil, Cliff, Loghin, Caterina, Range, Grégoire, Roussel, Laurent, Socié, Pierre, Thuaire, Christophe, Extramiana, Fabrice, Algalarrondo, Vincent, Boughanmi, Haten, El Mansour, Noreddine, Mohammad, Usman, Sellier, Romain, Elbaz, Meyer, Laperche, Clémence, Maury, Philippe, Kiss, Robert, Borsanyi, Tunde, Gingl, Zoltan, Polgar, Balaza, Benczur, Bela, Bodor, Alexandra, Hepp, Tamas, Malati, Eva, Nagy, Laszlo, Erdei, Norbert, Kapus, Jozsef, Kapus, Katalin, Toth, Brigitta, Matoltsy, Andras, Kiss, Tunde, Merkely, Bela, Herczeg, Szilvia, Kiss, Orsolya, Sallo, Zoltan, Toth, Kalman, Habon, Tamas, Rabai, Miklos, Totsimon, Kinga, Zilahi, Zsolt, Bencze, Gabriella, Santa, Janos, Aradi, Daniel, Kelemen, Barbara, Bolognese, Leonardo, Nesti, Martina, Notarstefano, Pasquale Giovanni, D'Orazio, Simona, Cosmi, Franco, Becattini, Cecilia, Agnelli, Giancarlo, Broccatelli, Belinda, Mosconi, Maria Giulia, Paciaroni, Maurizio, Urbini, Chiara, Parato, Vito Maurizio, Notaristefani, Camilla, Scarano, Michele, Ameri, Pietro, Ghigliotti, Giorgio, Guglielmi, Giulia, Lotti, Roberta, Merlo, Andrea Carlo, Muiesan, Maria Lorenza, Abondio, Andrea, Berasi, Caterina, Mattiuzzo, Elena, Mutti, Claudio, Salvetti, Massimo, Pignatelli, Pasquale, Menichelli, Danilo, Pastori, Daniele, Tamiya, Eiji, Matsumoto, Takahiro, Takabe, Tomosato, Yamamoto, Shoichi, Yamashita, Haruyo, Higashiue, Shinichi, Furuya, Onichi, Hiramatsu, Norihiko, Kasuga, Kensuke, Kojima, Saburo, Komooka, Masatoshi, Kuroyanagi, Satoshi, Matsuura, Makoto, Takemoto, Tetsushi, Yamamoto, Shuji, Saito, Katusmi, Abe, Takuro, Ishida, Issei, Iwanami, Yuji, Kataoka, Shohei, Moriyama, Tetsu, Murohashi, Akira, Sasaki, Akihito, Nakamura, Yuichiro, Ueno, Tetsuya, Shimane, Akira, Hamana, Tomoyo, Ichibori, Hirotoshi, Inoue, Tomohiro, Itoh, Mitsuaki, Iwane, Seigo, Kawai, Hiroya, Kokawa, Tatsuya, Masumoto, Akiko, Matsuo, Koki, Miyata, Taishi, Nakano, Shinsuke, Oishi, Shogo, Onishi, Tetsuari, Sawada, Takahiro, Saito, Takayuki, Shoda, Mitsuhiko, Takahashi, Nobuyuki, Takaya, Tomofumi, Taniguchi, Yasuyo, Tsukamoto, Shota, Tsukishiro, Yasue, Tsukiyama, Yoshiro, Tsunamoto, Hiroshi, Uzu, Kenzo, Yamamoto, Hiroyuki, Yamamoto, Tetsuya, Yokoi, Kiminobu, Yoshida, Chiaki, Watanabe, Nobuhiro, Betsuyaku, Tetsuo, Adachi, Kumiko, Awane, Kouichi, Goto, Daisuke, Sakakibara, Mamoru, Watanabe, Masashi, Ueno, Hideki, Hiroe, Yoshitaka, Matsuo, Koshi, Ayata, Kenji, Fukuda, Ko, Hata, Yoshiki, Hashimoto, Katsushi, Matsumi, Hiroaki, Nikaido, Akira, Okamoto, Shuichi, Sime, Iveta, Stirna, Valters, Reinholde, Ilze, Hansone, Silvija, Kozlovska, Anita, Romanova, Janina, Klincare, Dace, Pontaga, Natalja, Dirmans, Igors, Kalnins, Artis, Upite, Dana, Gersamija, Arcils, Teleznikovs, Arturs, Rozkova, Nadezda, Safro, Jelena, Anguera Camós, Ignasi, Domenico Dallaglio, Paolo, Salguero Bodes, Rafael, Arnbas, Fernando, Borrego, Luis, Marco, Alvaro, Jimenez, Javier Ramos, Gómez-Doblas, Juan José, Pérez Cabeza, Alejandro, Ferreira Gonzålez, Ignacio, Limeres Freire, Javier, Lopez Grau, Merce, Viñolas Prat, Xavier, Moreno Weidmann, Zoraida, Guerra Ramos, Jose Maria, Alonso Martin, Maria Concepcion, Campos Garcia, Bieito, Mogro Carranza, Javier Mauricio, Mendez Zurita, Francisco Javier, Rodriguez Font, Enrique, Gonzales Matos, Carlos Eduardo, García Hernando, Víctor, Lindholm, Carl-Johan, Thulin, Jörgen, Wallén, Håkan, Hagwall, Kristina, Eliasson, Ken, Lundvall, Martin, Olsson, Jens, Kjellman, Björn, Lind, Markus, Johansson, Lars, Svedberg, Niclas, Berglund, Stefan, Söderberg, Julia, Zedigh, Christer, Mooe, Thomas, Axelsson, Mattias, Binsell, Emil, Huber, Daniel, Müller, Christian, Danier, Isabelle, Kühne, Michael, Okamura, Bernhard, Schoepfer, Hadrien, Simmen, Cornelia, Reichlin, Tobias, Chollet, Laurève, Lam, Anna, Wittmer, Severin, Rickli, Hans, Gall, Christian, Hametner, Greta, Intorp, Stephanie, Luescher, Daniel, Haegeli, Laurent, Berg, Jan Christopher, Ebrahimi, Ramin, Auricchio, Angelo, Crljenica, Carmela, Moccetti, Tizziano, Monti, Cristina, Pasotti, Elena, Petrova, Iveta, Rossi, Mariagrazia, Mach, François, Namdar, Mehdi, de Groot, Joris, Proost, Virginnio, Neefs, Joline, Linz, Dominik, van Stipdonk, Twan, den Uijl, Dennis, Alings, Marco, Schaap, Jeroen, Segers, Dolf, Wouters, Noemi, Bartels, Louis, Tieleman, Robert, Pisters, Ron, de Vries, Tim, Selig, Jaap, Kuijper, Aaf, Bot, Pieter, Keijzers, Mitran, Verdel, Gerardus, Tukkie, Raymond, van den Bos, Ewout, Kauer, Floris, Oemrawsingh, Rohit, Stevenhagen, Jeroen, van Es, Jan, Lip, Gregory, Gupta, Dhiraj, Kotalczyk, Agnieszka, Gunstone, Anthony, Brixey, Richard David, Gorog, Diana, Dinarvand, Danial, Gue, Ying, Kanji, Rahim, Memtsas, Vassilios, Senior, Roxy, Bioh, Gabriel, Wong, Yuk-Ki, Child, Nick, Piccini, Jonathan P, Caso, Valeria, Connolly, Stuart J, Fox, Keith A A, Oldgren, Jonas, Jones, W Schuyler, Gorog, Diana A, Durdil, Václav, Viethen, Thomas, Neumann, Christoph, Mundl, Hardi, and Patel, Manesh R

Published
2022
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7. Predictores de riesgo en una cohorte española con cardiolaminopatías. Registro REDLAMINA

Author

Barriales-Villa, Roberto, Ochoa, Juan P., Larrañaga-Moreira, José M., Salazar-Mendiguchía, Joel, Díez-López, Carles, Restrepo-Córdoba, María Alejandra, Álvarez-Rubio, Jorge, Robles-Mezcua, Ainhoa, Olmo-Conesa, María C., Nicolás-Rocamora, Elisa, Sanz, Jorge, Villacorta, Eduardo, Gallego-Delgado, María, Yotti, Raquel, Espinosa, María Ángeles, Manovel, Ana, Rincón-Díaz, Luis M., Jiménez-Jaimez, Juan, Bermúdez-Jiménez, Francisco J., Basurte-Elorz, M. Teresa, Climent-Payá, Vicente, García-Álvarez, María I., Rodríguez-Palomares, José Fernando, Limeres-Freire, Javier, Pérez-Guerrero, Ainhoa, Cantero-Pérez, Eva M., Peña-Peña, María L., Palomino-Doza, Julián, Crespo-Leiro, María G., García-Pinilla, José M., Zorio, Esther, Ripoll-Vera, Tomás, García-Pavía, Pablo, Ortiz-Genga, Martín, and Monserrat, Lorenzo

Published
2021
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9. Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

Author

Amor-Salamanca, Almudena, primary, Santana Rodríguez, Alfredo, additional, Rasoul, Hazhee, additional, Rodríguez-Palomares, José F., additional, Moldovan, Oana, additional, Hey, Thomas Morris, additional, Delgado, María Gallego, additional, Cuenca, David López, additional, de Castro Campos, Daniel, additional, Basurte-Elorz, María Teresa, additional, Macías-Ruiz, Rosa, additional, Fuentes Cañamero, María Eugenia, additional, Galvin, Joseph, additional, Bilbao Quesada, Raquel, additional, de la Higuera Romero, Luis, additional, Trujillo-Quintero, Juan Pablo, additional, García-Cruz, Loida María, additional, Cárdenas-Reyes, Ivonne, additional, Jiménez-Jáimez, Juan, additional, García-Hernández, Soledad, additional, Valverde-Gómez, María, additional, Gómez-Díaz, Iria, additional, Limeres Freire, Javier, additional, García-Pinilla, José M., additional, Gimeno-Blanes, Juan R., additional, Savattis, Kostantinos, additional, García-Pavía, Pablo, additional, and Ochoa, Juan Pablo, additional

Published
2024
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10. 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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11. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Author

Cannie, Douglas E, primary, Syrris, Petros, additional, Protonotarios, Alexandros, additional, Bakalakos, Athanasios, additional, Pruny, Jean-François, additional, Ditaranto, Raffaello, additional, Martinez-Veira, Cristina, additional, Larrañaga-Moreira, Jose M, additional, Medo, Kristen, additional, Bermúdez-Jiménez, Francisco José, additional, Ben Yaou, Rabah, additional, Leturcq, France, additional, Mezcua, Ainhoa Robles, additional, Marini-Bettolo, Chiara, additional, Cabrera, Eva, additional, Reuter, Chloe, additional, Limeres Freire, Javier, additional, Rodríguez-Palomares, José F, additional, Mestroni, Luisa, additional, Taylor, Matthew R G, additional, Parikh, Victoria N, additional, Ashley, Euan A, additional, Barriales-Villa, Roberto, additional, Jiménez-Jáimez, Juan, additional, Garcia-Pavia, Pablo, additional, Charron, Philippe, additional, Biagini, Elena, additional, García Pinilla, José M, additional, Bourke, John, additional, Savvatis, Konstantinos, additional, Wahbi, Karim, additional, and Elliott, Perry M, additional

Published
2023
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12. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Author

Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, Elliott, Perry M., Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, and Elliott, Perry M.

Abstract

[Abstract] Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43.3 (16.8) years, respectively]. Nine (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) follow-up of 65.0 (24.3–109.5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58.6 (53.2–60.4) years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank P = .49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P = .09). Conclusions Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease.

Published
2023

13. Safety of the oral factor XIa inhibitor asundexian compared with apixaban in patients with atrial fibrillation (PACIFIC-AF): a multicentre, randomised, double-blind, double-dummy, dose-finding phase 2 study

Author

Piccini, Jonathan P, primary, Caso, Valeria, additional, Connolly, Stuart J, additional, Fox, Keith A A, additional, Oldgren, Jonas, additional, Jones, W Schuyler, additional, Gorog, Diana A, additional, Durdil, Václav, additional, Viethen, Thomas, additional, Neumann, Christoph, additional, Mundl, Hardi, additional, Patel, Manesh R, additional, Auer, Johann, additional, Hubauer, Martin, additional, Pandzic, Sead, additional, Preishuber, Eva, additional, Primus-Grabscheit, Carina, additional, Reitgruber, Dietmar, additional, Schmalzer, Florian, additional, Adlbrecht, Christopher, additional, Schober, Andreas, additional, Hajos, Johannes, additional, Keil, Christoph, additional, Schratter, Alexandra, additional, Frick, Matthias, additional, Benda, Magdalena Anna, additional, Mächler, Maximilian, additional, Mutschlechner, Beatrix, additional, Saely, Christoph, additional, Sprenger, Lukas, additional, Lichtenauer, Michael, additional, Eber, Miriam, additional, Hoppe, Uta, additional, Kolbitsch, Tobias, additional, Jirak, Peter Michael, additional, Mirna, Moritz, additional, Schönbauer, Robert, additional, Bergler-Klein, Jutta, additional, Hengstenberg, Christian, additional, Stojkovic, Stefan, additional, Scherr, Daniel, additional, Manninger-Wünscher, Martin, additional, Rohrer, Ursula, additional, Stühlinger, Markus, additional, Schgoer, Wilfried, additional, Schwarzl, Jana, additional, Pürerfellner, Helmut, additional, Derndorfer, Michael, additional, Ebner, Christian, additional, Eder, Veronika, additional, Kollias, Georgios, additional, Sturmberger, Thomas, additional, Sieghartsleitner, Stefan, additional, Vijgen, Johan, additional, Koopman, Peter, additional, Dujardin, Karl, additional, Anné, Wim, additional, De Ceuninck, Michel, additional, Tavernier, Rene, additional, Duytschaever, Mattias, additional, Knecht, Sébastien, additional, Missault, Luc, additional, Vandekerckhove, Yves, additional, Rossenbacker, Tom, additional, Ector, Bavo, additional, Charlier, Filip, additional, Debruyne, Philippe, additional, Dewilde, Willem, additional, Janssens, Luc, additional, Roosen, John, additional, Vankelecom, Bart, additional, Heidbuchel, Hein, additional, Delesie, Michiel, additional, Vervoort, Gert, additional, Rombouts, Hans, additional, Vanassche, Thomas, additional, Engelen, Matthias, additional, Verhamme, Peter, additional, Willems, Rik, additional, Constance, Christian, additional, Pranno, Nicolas, additional, Cox, Jafna, additional, Bata, Iqbal, additional, Macle, Laurent, additional, Aguilar, Martin, additional, Tourigny, Julia Cadrin, additional, Dubuc, Marc, additional, Dyrda, Katia, additional, Guerra, Peter, additional, Khairy, Paul, additional, Mondésert, Blandine, additional, Rivard, Léna, additional, Roy, Denis, additional, Tadros, Rafik, additional, Talajic, Mario, additional, Thibault, Bernard, additional, Nault, Isabelle, additional, Blier, Louis, additional, Champagne, Jean, additional, Molin, Franck, additional, O'Hara, Gilles, additional, Philippon, François, additional, Plourde, Benoit, additional, Sarrazin, Jean-François, additional, Steinberg, Christian, additional, Coufal, Zdenek, additional, Balazsik, David, additional, Mikulica, Michal, additional, Zapeca, Jakub, additional, Cermak, Ondrej, additional, Drasnar, Tomas, additional, Falc, Matej, additional, Hornof, Josef, additional, Racz, Blazej, additional, Weissova, Danica, additional, Linkova, Hana, additional, Paskova, Eva, additional, Petr, Robert, additional, Sirakova, Andrea, additional, Kettner, Jiri, additional, Benak, Ales, additional, Holek, Martin, additional, Podpera, Ivo, additional, Podperova, Monika, additional, Vancura, Vlastimil, additional, Jandik, Tomas, additional, Smid, Jiri, additional, Dedek, Vratislav, additional, Banik, Jan, additional, Durdil, Vaclav, additional, Hnat, Tomas, additional, Lellouche, Nicolas, additional, Rouffiac, Ségolène, additional, Taldir, Guillaume, additional, Bridonneau, Valentin, additional, Couffon, Philippe, additional, Daudin, Magalie, additional, Hamon, Cécile, additional, Lacaze, Jonathan, additional, Quentin, Anne, additional, Thebault, Christophe, additional, Boiffard, Emmanuel, additional, Billon, Olivier, additional, Miette, Fabien, additional, Pouliquen, Hervé, additional, Turlotte, Guillaume, additional, Gorka, Hervé, additional, Albert, Franck, additional, Bayle, Sandrine, additional, Bensaid, Reda, additional, Dasoveanu, Madalina, additional, Demichili, Thibaud, additional, Dutoiu, Teodora, additional, Khalil, Cliff, additional, Loghin, Caterina, additional, Range, Grégoire, additional, Roussel, Laurent, additional, Socié, Pierre, additional, Thuaire, Christophe, additional, Extramiana, Fabrice, additional, Algalarrondo, Vincent, additional, Boughanmi, Haten, additional, El Mansour, Noreddine, additional, Mohammad, Usman, additional, Sellier, Romain, additional, Elbaz, Meyer, additional, Laperche, Clémence, additional, Maury, Philippe, additional, Kiss, Robert, additional, Borsanyi, Tunde, additional, Gingl, Zoltan, additional, Polgar, Balaza, additional, Benczur, Bela, additional, Bodor, Alexandra, additional, Hepp, Tamas, additional, Malati, Eva, additional, Nagy, Laszlo, additional, Erdei, Norbert, additional, Kapus, Jozsef, additional, Kapus, Katalin, additional, Toth, Brigitta, additional, Matoltsy, Andras, additional, Kiss, Tunde, additional, Merkely, Bela, additional, Herczeg, Szilvia, additional, Kiss, Orsolya, additional, Sallo, Zoltan, additional, Toth, Kalman, additional, Habon, Tamas, additional, Rabai, Miklos, additional, Totsimon, Kinga, additional, Zilahi, Zsolt, additional, Bencze, Gabriella, additional, Santa, Janos, additional, Aradi, Daniel, additional, Kelemen, Barbara, additional, Bolognese, Leonardo, additional, Nesti, Martina, additional, Notarstefano, Pasquale Giovanni, additional, D'Orazio, Simona, additional, Cosmi, Franco, additional, Becattini, Cecilia, additional, Agnelli, Giancarlo, additional, Broccatelli, Belinda, additional, Mosconi, Maria Giulia, additional, Paciaroni, Maurizio, additional, Urbini, Chiara, additional, Parato, Vito Maurizio, additional, Notaristefani, Camilla, additional, Scarano, Michele, additional, Ameri, Pietro, additional, Ghigliotti, Giorgio, additional, Guglielmi, Giulia, additional, Lotti, Roberta, additional, Merlo, Andrea Carlo, additional, Muiesan, Maria Lorenza, additional, Abondio, Andrea, additional, Berasi, Caterina, additional, Mattiuzzo, Elena, additional, Mutti, Claudio, additional, Salvetti, Massimo, additional, Pignatelli, Pasquale, additional, Menichelli, Danilo, additional, Pastori, Daniele, additional, Tamiya, Eiji, additional, Matsumoto, Takahiro, additional, Takabe, Tomosato, additional, Yamamoto, Shoichi, additional, Yamashita, Haruyo, additional, Higashiue, Shinichi, additional, Furuya, Onichi, additional, Hiramatsu, Norihiko, additional, Kasuga, Kensuke, additional, Kojima, Saburo, additional, Komooka, Masatoshi, additional, Kuroyanagi, Satoshi, additional, Matsuura, Makoto, additional, Takemoto, Tetsushi, additional, Yamamoto, Shuji, additional, Saito, Katusmi, additional, Abe, Takuro, additional, Ishida, Issei, additional, Iwanami, Yuji, additional, Kataoka, Shohei, additional, Moriyama, Tetsu, additional, Murohashi, Akira, additional, Sasaki, Akihito, additional, Nakamura, Yuichiro, additional, Ueno, Tetsuya, additional, Shimane, Akira, additional, Hamana, Tomoyo, additional, Ichibori, Hirotoshi, additional, Inoue, Tomohiro, additional, Itoh, Mitsuaki, additional, Iwane, Seigo, additional, Kawai, Hiroya, additional, Kokawa, Tatsuya, additional, Masumoto, Akiko, additional, Matsuo, Koki, additional, Miyata, Taishi, additional, Nakano, Shinsuke, additional, Oishi, Shogo, additional, Onishi, Tetsuari, additional, Sawada, Takahiro, additional, Saito, Takayuki, additional, Shoda, Mitsuhiko, additional, Takahashi, Nobuyuki, additional, Takaya, Tomofumi, additional, Taniguchi, Yasuyo, additional, Tsukamoto, Shota, additional, Tsukishiro, Yasue, additional, Tsukiyama, Yoshiro, additional, Tsunamoto, Hiroshi, additional, Uzu, Kenzo, additional, Yamamoto, Hiroyuki, additional, Yamamoto, Tetsuya, additional, Yokoi, Kiminobu, additional, Yoshida, Chiaki, additional, Watanabe, Nobuhiro, additional, Betsuyaku, Tetsuo, additional, Adachi, Kumiko, additional, Awane, Kouichi, additional, Goto, Daisuke, additional, Sakakibara, Mamoru, additional, Watanabe, Masashi, additional, Ueno, Hideki, additional, Hiroe, Yoshitaka, additional, Matsuo, Koshi, additional, Ayata, Kenji, additional, Fukuda, Ko, additional, Hata, Yoshiki, additional, Hashimoto, Katsushi, additional, Matsumi, Hiroaki, additional, Nikaido, Akira, additional, Okamoto, Shuichi, additional, Sime, Iveta, additional, Stirna, Valters, additional, Reinholde, Ilze, additional, Hansone, Silvija, additional, Kozlovska, Anita, additional, Romanova, Janina, additional, Klincare, Dace, additional, Pontaga, Natalja, additional, Dirmans, Igors, additional, Kalnins, Artis, additional, Upite, Dana, additional, Gersamija, Arcils, additional, Teleznikovs, Arturs, additional, Rozkova, Nadezda, additional, Safro, Jelena, additional, Anguera Camós, Ignasi, additional, Domenico Dallaglio, Paolo, additional, Salguero Bodes, Rafael, additional, Arnbas, Fernando, additional, Borrego, Luis, additional, Marco, Alvaro, additional, Jimenez, Javier Ramos, additional, Gómez-Doblas, Juan José, additional, Pérez Cabeza, Alejandro, additional, Ferreira Gonzålez, Ignacio, additional, Limeres Freire, Javier, additional, Lopez Grau, Merce, additional, Viñolas Prat, Xavier, additional, Moreno Weidmann, Zoraida, additional, Guerra Ramos, Jose Maria, additional, Alonso Martin, Maria Concepcion, additional, Campos Garcia, Bieito, additional, Mogro Carranza, Javier Mauricio, additional, Mendez Zurita, Francisco Javier, additional, Rodriguez Font, Enrique, additional, Gonzales Matos, Carlos Eduardo, additional, García Hernando, Víctor, additional, Lindholm, Carl-Johan, additional, Thulin, Jörgen, additional, Wallén, Håkan, additional, Hagwall, Kristina, additional, Eliasson, Ken, additional, Lundvall, Martin, additional, Olsson, Jens, additional, Kjellman, Björn, additional, Lind, Markus, additional, Johansson, Lars, additional, Svedberg, Niclas, additional, Berglund, Stefan, additional, Söderberg, Julia, additional, Zedigh, Christer, additional, Mooe, Thomas, additional, Axelsson, Mattias, additional, Binsell, Emil, additional, Huber, Daniel, additional, Müller, Christian, additional, Danier, Isabelle, additional, Kühne, Michael, additional, Okamura, Bernhard, additional, Schoepfer, Hadrien, additional, Simmen, Cornelia, additional, Reichlin, Tobias, additional, Chollet, Laurève, additional, Lam, Anna, additional, Wittmer, Severin, additional, Rickli, Hans, additional, Gall, Christian, additional, Hametner, Greta, additional, Intorp, Stephanie, additional, Luescher, Daniel, additional, Haegeli, Laurent, additional, Berg, Jan Christopher, additional, Ebrahimi, Ramin, additional, Auricchio, Angelo, additional, Crljenica, Carmela, additional, Moccetti, Tizziano, additional, Monti, Cristina, additional, Pasotti, Elena, additional, Petrova, Iveta, additional, Rossi, Mariagrazia, additional, Mach, François, additional, Namdar, Mehdi, additional, de Groot, Joris, additional, Proost, Virginnio, additional, Neefs, Joline, additional, Linz, Dominik, additional, van Stipdonk, Twan, additional, den Uijl, Dennis, additional, Alings, Marco, additional, Schaap, Jeroen, additional, Segers, Dolf, additional, Wouters, Noemi, additional, Bartels, Louis, additional, Tieleman, Robert, additional, Pisters, Ron, additional, de Vries, Tim, additional, Selig, Jaap, additional, Kuijper, Aaf, additional, Bot, Pieter, additional, Keijzers, Mitran, additional, Verdel, Gerardus, additional, Tukkie, Raymond, additional, van den Bos, Ewout, additional, Kauer, Floris, additional, Oemrawsingh, Rohit, additional, Stevenhagen, Jeroen, additional, van Es, Jan, additional, Lip, Gregory, additional, Gupta, Dhiraj, additional, Kotalczyk, Agnieszka, additional, Gunstone, Anthony, additional, Brixey, Richard David, additional, Gorog, Diana, additional, Dinarvand, Danial, additional, Gue, Ying, additional, Kanji, Rahim, additional, Memtsas, Vassilios, additional, Senior, Roxy, additional, Bioh, Gabriel, additional, Wong, Yuk-Ki, additional, and Child, Nick, additional

Published
2022
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14. Influence of Initial Clinical Guidance on the Diagnostic Yield by Laboratory Enzymatic Testing in Lysosomal Storage Disorders. Experience from a Multispecialty Hospital

Author

Carnicer-Caceres, Clara, primary, Villena-Ortiz, Yolanda, additional, Castillo-Ribelles, Laura, additional, Barquín-del-Pino, Raquel, additional, Camprodon-Gomez, Maria, additional, Felipe-Rucián, Ana, additional, Moreno-Martínez, David, additional, Lucas-del-Pozo, Sara, additional, Hernández-Vara, Jorge, additional, Tigri-Santiña, Ariadna, additional, Moltó-Abad, Marc, additional, Agraz-Pamplona, Irene, additional, Rodriguez-Palomares, Jose F., additional, Limeres-Freire, Javier, additional, Macaya-Font, Marc, additional, Rodríguez-Sureda, Victor, additional, De Miguel, Lucy Dougherty, additional, del-Toro-Riera, Mireia, additional, Pintos-Morell, Guillem, additional, and Arranz-Amo, Jose Antonio, additional

Published
2022
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15. Characterization of hereditary transthyretin cardiac amyloidosis in Spain

Author

Álvarez Rubio, Jorge, primary, Manovel Sánchez, Ana José, additional, González-Costello, José, additional, García-Pavía, Pablo, additional, Limeres Freire, Javier, additional, García-Pinilla, José Manuel, additional, Zorio Grima, Esther, additional, García-Álvarez, Ana, additional, Valverde Gómez, María, additional, Espinosa Castro, M. Ángeles, additional, Barge-Caballero, Gonzalo, additional, Gimeno Blanes, Juan Ramón, additional, Bosch Rovira, María Teresa, additional, Rincón Díaz, Luis Miguel, additional, Aibar Arregui, Miguel Ángel, additional, Gallego-Delgado, María, additional, Jiménez-Jáimez, Juan, additional, Martínez Moreno, Marina, additional, Basurte, Mayte, additional, Arana Achaga, Xabier, additional, Hernández Baldomero, Idaira Famara, additional, and Ripoll-Vera, Tomás, additional

Published
2021
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16. Characterization of hereditary transthyretin cardiac amyloidosis in Spain.

Author

Álvarez Rubio, Jorge, Manovel Sánchez, Ana José, González-Costello, José, García-Pavía, Pablo, Limeres Freire, Javier, García-Pinilla, José Manuel, Zorio Grima, Esther, García-Álvarez, Ana, Valverde Gómez, María, Espinosa Castro, M. Ángeles, Barge-Caballero, Gonzalo, Gimeno Blanes, Juan Ramón, Bosch Rovira, María Teresa, Rincón Díaz, Luis Miguel, Aibar Arregui, Miguel Ángel, Gallego-Delgado, María, Jiménez-Jáimez, Juan, Martínez Moreno, Marina, Basurte, Mayte, and Arana Achaga, Xabier

Abstract

Copyright of Revista Española de Cardiología (18855857) is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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2022
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17. Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

Author

Barriales-Villa, Roberto, primary, Ochoa, Juan P., additional, Larrañaga-Moreira, José M., additional, Salazar-Mendiguchía, Joel, additional, Díez-López, Carles, additional, Restrepo-Córdoba, María Alejandra, additional, Álvarez-Rubio, Jorge, additional, Robles-Mezcua, Ainhoa, additional, Olmo-Conesa, María C., additional, Nicolás-Rocamora, Elisa, additional, Sanz, Jorge, additional, Villacorta, Eduardo, additional, Gallego-Delgado, María, additional, Yotti, Raquel, additional, Espinosa, María Ángeles, additional, Manovel, Ana, additional, Rincón-Díaz, Luis M., additional, Jiménez-Jaimez, Juan, additional, Bermúdez-Jiménez, Francisco J., additional, Basurte-Elorz, M. Teresa, additional, Climent-Payá, Vicente, additional, García-Álvarez, María I., additional, Rodríguez-Palomares, José Fernando, additional, Limeres-Freire, Javier, additional, Pérez-Guerrero, Ainhoa, additional, Cantero-Pérez, Eva M., additional, Peña-Peña, María L., additional, Palomino-Doza, Julián, additional, Crespo-Leiro, María G., additional, García-Pinilla, José M., additional, Zorio, Esther, additional, Ripoll-Vera, Tomás, additional, García-Pavía, Pablo, additional, Ortiz-Genga, Martín, additional, and Monserrat, Lorenzo, additional

Published
2021
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18. Risk Predictors in a Spanish Cohort With Cardiac Laminopathies. The REDLAMINA Registry

Author

Barriales-Villa, Roberto, Ochoa, Juan Pablo, Larrañaga-Moreira, Jose Maria, Salazar-Mediguchia, Joel, Díez-López, Carles, Restrepo-Córdoba, María Alejandra, Álvarez-Rubio, Jorge, Robles-Mezcua, Ainhoa, Olmo-Conesa, María C., Nicolás-Rocamora, Elisa, Sanz, Jorge, Villacorta, Eduardo, Gallego-Delgado, María, Yotti, Raquel, Espinosa, María Ángeles, Manovel, Ana, Rincón-Díaz, Luis M., Jiménez-Jaimez, Juan, Bermúdez-Jiménez, Francisco J., Basurte-Elorz, M. Teresa, Climent-Payá, Vicente, García-Álvarez, María I., Rodríguez-Palomares, José Fernando, Limeres-Freire, Javier, Pérez-Guerrero, Ainhoa, Cantero-Pérez, Eva M., Peña-Peña, Maria Luisa, Palomino-Doza, Julián, Crespo-Leiro, María Generosa, García-Pinilla, José Manuel, Zorio, Esther, Ripoll-Vera, Tomás, García-Pavía, Pablo, Ortiz-Genga, Martín, Monserrat, Lorenzo, Barriales-Villa, Roberto, Ochoa, Juan Pablo, Larrañaga-Moreira, Jose Maria, Salazar-Mediguchia, Joel, Díez-López, Carles, Restrepo-Córdoba, María Alejandra, Álvarez-Rubio, Jorge, Robles-Mezcua, Ainhoa, Olmo-Conesa, María C., Nicolás-Rocamora, Elisa, Sanz, Jorge, Villacorta, Eduardo, Gallego-Delgado, María, Yotti, Raquel, Espinosa, María Ángeles, Manovel, Ana, Rincón-Díaz, Luis M., Jiménez-Jaimez, Juan, Bermúdez-Jiménez, Francisco J., Basurte-Elorz, M. Teresa, Climent-Payá, Vicente, García-Álvarez, María I., Rodríguez-Palomares, José Fernando, Limeres-Freire, Javier, Pérez-Guerrero, Ainhoa, Cantero-Pérez, Eva M., Peña-Peña, Maria Luisa, Palomino-Doza, Julián, Crespo-Leiro, María Generosa, García-Pinilla, José Manuel, Zorio, Esther, Ripoll-Vera, Tomás, García-Pavía, Pablo, Ortiz-Genga, Martín, and Monserrat, Lorenzo

Abstract

[Abstract] Introduction and objectives. According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ≥ 2 risk factors: male sex, left ventricular ejection fraction (LVEF) < 45%, nonsustained ventricular tachycardia (NSVT), and nonmissense genetic variants. In this study we aimed to describe the clinical characteristics of carriers of LMNA genetic variants among individuals from a Spanish cardiac-laminopathies cohort (REDLAMINA registry) and to assess previously reported risk criteria. Methods. The relationship between risk factors and cardiovascular events was evaluated in a cohort of 140 carriers (age ≥ 16 years) of pathogenic LMNA variants (54 probands, 86 relatives). We considered: a) major arrhythmic events (MAE) if there was appropriate ICD discharge or sudden cardiac death; b) heart failure death if there was heart transplant or death due to heart failure. Results. We identified 11 novel and 21 previously reported LMNA-related DCM variants. LVEF < 45% (P = .001) and NSVT (P < .001) were related to MAE, but not sex or type of genetic variant. The only factor independently related to heart failure death was LVEF < 45% (P < .001). Conclusions. In the REDLAMINA registry cohort, the only predictors independently associated with MAE were NSVT and LVEF < 45%. Therefore, female carriers of missense variants with either NSVT or LVEF < 45% should not be considered a low-risk group. It is important to individualize risk stratification in carriers of LMNA missense variants, because not all have the same prognosis., [Resumen] Introducción y objetivos. Según las guías de muerte súbita, se debe considerar un desfibrilador automático implantable (DAI) para los pacientes con miocardiopatía dilatada debida a variantes en el gen de la lamina (LMNA) con al menos 2 factores: varones, fracción de eyección del ventrículo izquierdo (FEVI) < 45%, taquicardia ventricular no sostenida (TVNS) y variantes no missense. Nuestro objetivo es describir las características clínicas de una cohorte española de pacientes con cardiolaminopatías (registro REDLAMINA) y evaluar los criterios de riesgo vigentes. Métodos. Se evaluó la relación entre factores de riesgo y eventos cardiovasculares en una cohorte de 140 portadores de variantes en LMNA (54 probandos, 86 familiares, edad ≥ 16 años). Se consideró: a) evento arrítmico mayor (EAM) si hubo descarga apropiada del DAI o muerte súbita, y b) muerte por insuficiencia cardiaca, incluidos los trasplantes. Resultados. Se identificaron 11 variantes nuevas y 21 previamente publicadas. La FEVI < 45% (p = 0,001) y la TVNS (p < 0,001) se relacionaron con los EAM, pero no el sexo o el tipo de variante (missense frente a no missense). La FEVI < 45% (p < 0,001) fue el único factor relacionado con la muerte por insuficiencia cardiaca. Conclusiones. En el registro REDLAMINA, los únicos 2 predictores asociados con EAM fueron la TVNS y la FEVI < 45%. No se debería considerar grupo de bajo riesgo a las portadoras de variantes missense con TVNS o FEVI < 45%. Es importante individualizar la estratificación del riesgo de los portadores de variantes missense en LMNA, porque no todas tienen el mismo pronóstico.

Published
2020

19. 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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