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2. A comprehensive CMR analysis improves risk stratification in left ventricular noncompaction

Author

Casas, G, primary, Rodenas, E, additional, Gonzalez-Del-Hoyo, M, additional, Barriales, R, additional, Garcia-Pavia, P, additional, Villacorta, E, additional, Zorio, E, additional, Jimenez-Jaimez, J, additional, Bayes, A, additional, Ripoll, T, additional, Gimeno, J R, additional, Guala, A, additional, Limeres, J, additional, Ferreira-Gonzalez, I, additional, and Rodriguez-Palomares, J F, additional

Published
2023
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4. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Author

Lopes, Luis R, Losi, Maria-Angela, Sheikh, Nabeel, Laroche, Cécile, Charron, Philippe, Gimeno, Juan, Kaski, Juan P, Maggioni, Aldo P, Tavazzi, Luigi, Arbustini, Eloisa, Brito, Dulce, Celutkiene, Jelena, Hagege, Albert, Linhart, Ales, Mogensen, Jens, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomas, Seggewiss, Hubert, Villacorta, Eduardo, Caforio, Alida, Elliott, Perry M, Komissarova, S, Chakova, N, Niyazova, S, Linhart, A, Kuchynka, P, Palecek, T, Podzimkova, J, Fikrle, M, Nemecek, E, Bundgaard, H, Tfelt-Hansen, J, Theilade, J, Thune, J J, Axelsson, A, Mogensen, J, Henriksen, F, Hey, T, Nielsen, S K, Videbaek, L, Andreasen, S, Arnsted, H, Saad, A, Ali, M, Lommi, J, Helio, T, Nieminen, M S, Dubourg, O, Mansencal, N, Arslan, M, Tsieu, V Siam, Damy, T, Guellich, A, Guendouz, S, Tissot, C M, Lamine, A, Rappeneau, S, Hagege, A, Desnos, M, Bachet, A, Hamzaoui, M, Charron, P, Isnard, R, Legrand, L, Maupain, C, Gandjbakhch, E, Kerneis, M, Pruny, J-F, Bauer, A, Pfeiffer, B, Felix, S B, Dorr, M, Kaczmarek, S, Lehnert, K, Pedersen, A-L, Beug, D, Bruder, M, Böhm, M, Kindermann, I, Linicus, Y, Werner, C, Neurath, B, Schild-Ungerbuehler, M, Seggewiss, H, Neugebauer, A, Mckeown, P, Muir, A, Mcosker, J, Jardine, T, Divine, G, Elliott, P, Lorenzini, M, Watkinson, O, Wicks, E, Iqbal, H, Mohiddin, S, O'Mahony, C, Sekri, N, Carr-White, G, Bueser, T, Rajani, R, Clack, L, Damm, J, Jones, S, Sanchez-Vidal, R, Smith, M, Walters, T, Wilson, K, Rosmini, S, Anastasakis, A, Ritsatos, K, Vlagkouli, V, Forster, T, Sepp, R, Borbas, J, Nagy, V, Tringer, A, Kakonyi, K, Szabo, L A, Maleki, M, Bezanjani, F Noohi, Amin, A, Naderi, N, Parsaee, M, Taghavi, S, Ghadrdoost, B, Jafari, S, Khoshavi, M, Rapezzi, C, Biagini, E, Corsini, A, Gagliardi, C, Graziosi, M, Longhi, S, Milandri, A, Ragni, L, Palmieri, S, Olivotto, I, Arretini, A, Castelli, G, Cecchi, F, Fornaro, A, Tomberli, B, Spirito, P, Devoto, E, Bella, P Della, Maccabelli, G, Sala, S, Guarracini, F, Peretto, G, Russo, M G, Calabro, R, Pacileo, G, Limongelli, G, Masarone, D, Pazzanese, V, Rea, A, Rubino, M, Tramonte, S, Valente, F, Caiazza, M, Cirillo, A, Del Giorno, G, Esposito, A, Gravino, R, Marrazzo, T, Trimarco, B, Losi, M-A, Nardo, C Di, Giamundo, A, Musella, F, Pacelli, F, Scatteia, A, Canciello, G, Caforio, A, Iliceto, S, Calore, C, Leoni, L, Marra, M Perazzolo, Rigato, I, Tarantini, G, Schiavo, A, Testolina, M, Arbustini, E, Toro, A Di, Giuliani, L P, Serio, A, Fedele, F, Frustaci, A, Alfarano, M, Chimenti, C, Drago, F, Baban, A, Calò, L, Lanzillo, C, Martino, A, Uguccioni, M, Zachara, E, Halasz, G, Re, F, Sinagra, G, Carriere, C, Merlo, M, Ramani, F, Kavoliuniene, A, Krivickiene, A, Tamuleviciute-Prasciene, E, Viezelis, M, Celutkiene, J, Balkeviciene, L, Laukyte, M, Paleviciute, E, Pinto, Y, Wilde, A, Asselbergs, F W, Sammani, A, Van Der Heijden, J, Van Laake, L, De Jonge, N, Hassink, R, Kirkels, J H, Ajuluchukwu, J, Olusegun-Joseph, A, Ekure, E, Mizia-Stec, K, Tendera, M, Czekaj, A, Sikora-Puz, A, Skoczynska, A, Wybraniec, M, Rubis, P, Dziewiecka, E, Wisniowska-Smialek, S, Bilinska, Z, Chmielewski, P, Nieradko, B Foss, Michalak, E, Stepien-Wojno, M, Mazek, B, Lopes, L Rocha, Almeida, A R, Cruz, I, Gomes, A C, Pereira, A R, Brito, D, Madeira, H, Francisco, A R, Menezes, M, Moldovan, O, Guimaraes, T Oliveira, Silva, D, Ginghina, C, Jurcut, R, Mursa, A, Popescu, B A, Apetrei, E, Militaru, S, Coman, I Mircea, Frigy, A, Fogarasi, Z, Kocsis, I, Szabo, I A, Fehervari, L, Nikitin, I, Resnik, E, Komissarova, M, Lazarev, V, Shebzukhova, M, Ustyuzhanin, D, Blagova, O, Alieva, I, Kulikova, V, Lutokhina, Y, Pavlenko, E, Varionchik, N, Ristic, A D, Seferovic, P M, Veljic, I, Zivkovic, I, Milinkovic, I, Pavlovic, A, Radovanovic, G, Simeunovic, D, Zdravkovic, M, Aleksic, M, Djokic, J, Hinic, S, Klasnja, S, Mircetic, K, Monserrat, L, Fernandez, X, Garcia-Giustiniani, D, Larrañaga, J M, Ortiz-Genga, M, Barriales-Villa, R, Martinez-Veira, C, Veira, E, Cequier, A, Salazar-Mendiguchia, J, Manito, N, Gonzalez, J, Fernández-Avilés, F, Medrano, C, Yotti, R, Cuenca, S, Espinosa, M A, Mendez, I, Zatarain, E, Alvarez, R, Pavia, P Garcia, Briceno, A, Cobo-Marcos, M, Dominguez, F, Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N, Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A, Gomez-Garcia, D, Robles-Mezcua, M, Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, Ripoll-Vera, T, Alvarez, J, Nunez, J, Gomez, Y, Fernandez, P L Sanchez, Villacorta, E, Avila, C, Bravo, L, Diaz-Pelaez, E, Gallego-Delgado, M, Garcia-Cuenllas, L, Plata, B, Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E, Arnau, M A, Sanz, J, Marques-Sule, E, Gale, Christopher Peter, Beleslin, Branko, Budaj, Andrzej, Chioncel, Ovidiu, Dagres, Nikolaos, Danchin, Nicolas, Erlinge, David, Emberson, Jonathan, Glikson, Michael, Gray, Alastair, Kayikcioglu, Meral, Maggioni, Aldo, Nagy, Klaudia Vivien, Nedoshivin, Aleksandr, Petronio, Anna-Sonia, Hesselink, Jolien Roo, Wallentin, Lars, Zeymer, Uwe, Caforio, Alida, Blanes, Juan Ramon Gimeno, Charron, Philippe, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michal, Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J J, Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S K, Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Helio, T., Nieminen, M S, Dubourg, O., Mansencal, N., Arslan, M., Tsieu, V Siam, Damy, T., Guellich, A., Guendouz, S., Tissot, C M, Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Charron, P., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J-F, Bauer, A., Pfeiffer, B., Felix, S B, Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A-L, Beug, D., Bruder, M., Böhm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., McKeown, P., Muir, A., McOsker, J., Jardine, T., Divine, G., Elliott, P., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L A, Maleki, M., Bezanjani, F Noohi, Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Olivotto, I., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Bella, P Della, Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M G, Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M-A, Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Marra, M Perazzolo, Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L P, Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Calò, L., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Sinagra, G., Carriere, C., Merlo, M., Ramani, F., Kavoliūnienė, Aušra, Krivickienė, Aušra, Tamulevičiūtė-Prascienė, Eglė, Vieželis, Mindaugas, Balkevičienė, Laura, Laukytė, M., Palevičiūtė, Eglė, Pinto, Y., Wilde, A., Asselbergs, F W, Sammani, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J H, Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Tendera, M., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Lopes, L Rocha, Almeida, A R, Cruz, I., Gomes, A C, Pereira, A R, Brito, D., Madeira, H., Francisco, A R, Menezes, M., Moldovan, O., Guimaraes, T Oliveira, Silva, D., Ginghina, C., Jurcut, R., Mursa, A., Popescu, B A, Apetrei, E., Militaru, S., Coman, I Mircea, Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I A, Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A D, Seferovic, P M, Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Zdravkovic, M., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larrañaga, J M, Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernández-Avilés, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M A, Mendez, I., Zatarain, E., Alvarez, R., Pavia, P Garcia, Briceno, A., Cobo-Marcos, M., Dominguez, F., Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N., Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, de Mallorca, Palma, Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Fernandez, P L Sanchez, Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E., Arnau, M A, Sanz, J., Marques-Sule, E., Repositório da Universidade de Lisboa, Lopes, Lr, Losi, Ma, Sheikh, N, Laroche, C, Charron, P, Gimeno, J, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Arbustini, E, Brito, D, Celutkiene, J, Hagege, A, Linhart, A, Mogensen, J, Garcia-Pinilla, Jm, Ripoll-Vera, T, Seggewiss, H, Villacorta, E, Caforio, A, and Elliott, Pm

Subjects
Genotype, Health Policy, Diabetes, Cardiovascular risk factors, Hypertension, Hypertrophic cardiomyopathy, Obesity, Cardiomyopathy, Hypertrophic, Ventricular Dysfunction, Left, diabete, Cardiovascular Diseases, Risk Factors, Heart Disease Risk Factors, cardiovascular risk factor, Humans, Female, 03.02. Klinikai orvostan, Cardiology and Cardiovascular Medicine, Cardiomyopathies, obesity
Abstract

© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. Methods and results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI) and clinical traits was analyzed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene.The prevalence of HT, DM and obesity (Ob) was 37%, 10%, and 21%, respectively. HT, DM and Ob were associated with older age (p

Published
2022

5. Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Author

Asselbergs F. W., Sammani A., Elliott P., Gimeno J. R., Tavazzi L., Tendera M., Kaski J. P., Maggioni A. P., Rubis P. P., Jurcut R., Helio T., Calo L., Sinagra G., Zdravkovic M., Olivotto I., Kavoliuniene A., Laroche C., Caforio A. L. P., Charron P., Komissarova S., Chakova N., Niyazova S., Linhart A., Kuchynka P., Palecek T., Podzimkova J., Fikrle M., Nemecek E., Bundgaard H., Tfelt-Hansen J., Theilade J., Thune J. J., Axelsson A., Mogensen J., Henriksen F., Hey T., Nielsen S. K., Videbaek L., Andreasen S., Arnsted H., Saad A., Ali M., Lommi J., Nieminennew M. S., Dubourg O., Mansencal N., Arslan M., Siam Tsieu V., Damy T., Guellich A., Guendouz S., Tissot C. M., Lamine A., Rappeneau S., Hagege A., Desnos M., Bachet A., Hamzaoui M., Isnard R., Legrand L., Maupain C., Gandjbakhch E., Kerneis M., Pruny J. -F., Bauer A., Pfeiffer B., Felix S. B., Dorr M., Kaczmarek S., Lehnert K., Pedersen A. -L., Beug D., Bruder M., Bohm M., Kindermann I., Linicus Y., Werner C., Neurath B., Schild-Ungerbuehler M., Seggewiss H., Neugebauer A., McKeown P., Muir A., McOsker J., Jardine T., Divine G., Lorenzini M., Watkinson O., Wicks E., Iqbal H., Mohiddin S., O'Mahony C., Sekri N., Carr-White G., Bueser T., Rajani R., Clack L., Damm J., Jones S., Sanchez-Vidal R., Smith M., Walters T., Wilson K., Rosmini S., Anastasakis A., Ritsatos K., Vlagkouli V., Forster T., Sepp R., Borbas J., Nagy V., Tringer A., Kakonyi K., Szabo L. A., Maleki M., Noohi Bezanjani F., Amin A., Naderi N., Parsaee M., Taghavi S., Ghadrdoost B., Jafari S., Khoshavi M., Rapezzi C., Biagini E., Corsini A., Gagliardi C., Graziosi M., Longhi S., Milandri A., Ragni L., Palmieri S., Arretini A., Castelli G., Cecchi F., Fornaro A., Tomberli B., Spirito P., Devoto E., Della Bella P., Maccabelli G., Sala S., Guarracini F., Peretto G., Russo M. G., Calabro R., Pacileo G., Limongelli G., Masarone D., Pazzanese V., Rea A., Rubino M., Tramonte S., Valente F., Caiazza M., Cirillo A., Del Giorno G., Esposito A., Gravino R., Marrazzo T., Trimarco B., Losi M. -A., Di Nardo C., Giamundo A., Musella F., Pacelli F., Scatteia A., Canciello G., Caforio A., Iliceto S., Calore C., Leoni L., Perazzolo Marra M., Rigato I., Tarantini G., Schiavo A., Testolina M., Arbustini E., Di Toro A., Giuliani L. P., Serio A., Fedele F., Frustaci A., Alfarano M., Chimenti C., Drago F., Baban A., Lanzillo C., Martino A., Uguccioni M., Zachara E., Halasz G., Re F., Carriere C., Merlo M., Ramani F., Krivickiene A., Tamuleviciute-Prasciene E., Viezelis M., Celutkiene J., Balkeviciene L., Laukyte M., Paleviciute E., Pinto Y., Wilde A., Van Der Heijden J., Van Laake L., De Jonge N., Hassink R., Kirkels J. H., Ajuluchukwu J., Olusegun-Joseph A., Ekure E., Mizia-Stec K., Czekaj A., Sikora-Puz A., Skoczynska A., Wybraniec M., Rubis P., Dziewiecka E., Wisniowska-Smialek S., Bilinska Z., Chmielewski P., Foss-Nieradko B., Michalak E., Stepien-Wojno M., Mazek B., Rocha Lopes L., Almeida A. R., Cruz I., Gomes A. C., Pereira A. R., Brito D., Madeira H., Francisco A. R., Menezes M., Moldovan O., Oliveira Guimaraes T., Silva D., Ginghina C., Mursa A., Popescu B. A., Apetrei E., Militaru S., Mircea Coman I., Frigy A., Fogarasi Z., Kocsis I., Szabo I. A., Fehervari L., Nikitin I., Resnik E., Komissarova M., Lazarev V., Shebzukhova M., Ustyuzhanin D., Blagova O., Alieva I., Kulikova V., Lutokhina Y., Pavlenko E., Varionchik N., Ristic A. D., Seferovic P. M., Veljic I., Zivkovic I., Milinkovic I., Pavlovic A., Radovanovic G., Simeunovic D., Aleksic M., Djokic J., Hinic S., Klasnja S., Mircetic K., Monserrat L., Fernandez X., Garcia-Giustiniani D., Larranaga J. M., Ortiz-Genga M., Barriales-Villa R., Martinez-Veira C., Veira E., Cequier A., Salazar-Mendiguchia J., Manito N., Gonzalez J., Fernandez-Aviles F., Medrano C., Yotti R., Cuenca S., Espinosa M. A., Mendez I., Zatarain E., Alvarez R., Garcia-Pavia P., Briceno A., Cobo-Marcos M., Dominguez F., De Teresa Galvan E., Garcia Pinilla J. M., Abdeselam-Mohamed N., Lopez-Garrido M. A., Morcillo Hidalgo L., Ortega-Jimenez M. V., Robles Mezcua A., Guijarro-Contreras A., Gomez-Garcia D., Robles-Mezcua M., Gimeno Blanes J. R., Castro F. J., Munoz Esparza C., Sabater Molina M., Sorli Garcia M., Lopez Cuenca D., Ripoll-Vera T., Alvarez J., Nunez J., Gomez Y., Sanchez Fernandez P. L., Villacorta E., Avila C., Bravo L., Diaz-Pelaez E., Gallego-Delgado M., Garcia-Cuenllas L., Plata B., Lopez-Haldon J. E., Pena Pena M. L., Cantero Perez E. M., Zorio E., Arnau M. A., Sanz J., Marques-Sulex E., University Medical Center [Utrecht], University College of London [London] (UCL), Hospital Univeristario Virgen de la Arrixaca, University Hospital of Ferrara and Maria Cecilia Hospital, Medical University of Silesia, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Chair of Medical Biochemistry, Jagiellonian University - Medical College, Chair of Medical Biochemistry, Emergency Hospital Floreasca Bucharest, Emergency Hospital Floreasca Bucharest, 8 Calea Floresca, Sector 1, 014461 Bucharest, Romania, University of Helsinki, Policlinico Casilino (Ospedale Policlinico Casilino), University of Trieste, University of Belgrade [Belgrade], Careggi University Hospital, Lithuanian University of health Sciences [Kaunas], 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), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca [Murcia], Medical University of Silesia (SUM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Università degli studi di Trieste = University of Trieste, Università degli Studi di Padova = University of Padua (Unipd), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (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)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL-SU, Gestionnaire, Asselbergs, F. W., Sammani, A., Elliott, P., Gimeno, J. R., Tavazzi, L., Tendera, M., Kaski, J. P., Maggioni, A. P., Rubis, P. P., Jurcut, R., Helio, T., Calo, L., Sinagra, G., Zdravkovic, M., Olivotto, I., Kavoliuniene, A., Laroche, C., Caforio, A. L. P., Charron, P., Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J. J., Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S. K., Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Nieminennew, M. S., Dubourg, O., Mansencal, N., Arslan, M., Siam Tsieu, V., Damy, T., Guellich, A., Guendouz, S., Tissot, C. M., Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J. -F., Bauer, A., Pfeiffer, B., Felix, S. B., Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A. -L., Beug, D., Bruder, M., Bohm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., Mckeown, P., Muir, A., Mcosker, J., Jardine, T., Divine, G., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L. A., Maleki, M., Noohi Bezanjani, F., Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Della Bella, P., Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M. G., Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M. -A., Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Perazzolo Marra, M., Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L. P., Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Carriere, C., Merlo, M., Ramani, F., Krivickiene, A., Tamuleviciute-Prasciene, E., Viezelis, M., Celutkiene, J., Balkeviciene, L., Laukyte, M., Paleviciute, E., Pinto, Y., Wilde, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J. H., Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Rocha Lopes, L., Almeida, A. R., Cruz, I., Gomes, A. C., Pereira, A. R., Brito, D., Madeira, H., Francisco, A. R., Menezes, M., Moldovan, O., Oliveira Guimaraes, T., Silva, D., Ginghina, C., Mursa, A., Popescu, B. A., Apetrei, E., Militaru, S., Mircea Coman, I., Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I. A., Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A. D., Seferovic, P. M., Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larranaga, J. M., Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernandez-Aviles, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M. A., Mendez, I., Zatarain, E., Alvarez, R., Garcia-Pavia, P., Briceno, A., Cobo-Marcos, M., Dominguez, F., De Teresa Galvan, E., Garcia Pinilla, J. M., Abdeselam-Mohamed, N., Lopez-Garrido, M. A., Morcillo Hidalgo, L., Ortega-Jimenez, M. V., Robles Mezcua, A., Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Gimeno Blanes, J. R., Castro, F. J., Munoz Esparza, C., Sabater Molina, M., Sorli Garcia, M., Lopez Cuenca, D., Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Sanchez Fernandez, P. L., Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J. E., Pena Pena, M. L., Cantero Perez, E. M., Zorio, E., Arnau, M. A., Sanz, J., Marques-Sulex, E., Cardiology, ACS - Heart failure & arrhythmias, HUS Heart and Lung Center, Clinicum, Department of Medicine, Kardiologian yksikkö, Helsinki University Hospital Area, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

Subjects
Registrie, lcsh:Diseases of the circulatory (Cardiovascular) system, EUROBSERVATIONAL RESEARCH-PROGRAM, Dilated cardiomyopathy, Europe, Familial, Genetic, Prognosis, Sporadic, Adult, Humans, Prospective Studies, Registries, Cardiomyopathies, Cardiomyopathy, Dilated, Myocarditis, Cardiomyopathy, 030204 cardiovascular system & hematology, 0302 clinical medicine, Original Research Articles, Dilated, PILOT, Original Research Article, 030212 general & internal medicine, Prospective cohort study, Ejection fraction, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Guideline adherence, 3. Good health, Cardiology and Cardiovascular Medicine, Human, medicine.medical_specialty, Prognosi, FREQUENCY, 03 medical and health sciences, Internal medicine, medicine, Cardiomyopathie, Genetic testing, business.industry, medicine.disease, Prospective Studie, lcsh:RC666-701, 3121 General medicine, internal medicine and other clinical medicine, Heart failure, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; AimsDilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non‐familial (sporadic) DCM (SDCM) across Europe.Methods and resultsPatients with DCM that were enrolled in the prospective ESC EORP Cardiomyopathy & Myocarditis Registry were included. Baseline characteristics, genetic testing, genetic yield, and outcome were analysed comparing FDCM and SDCM; 1260 adult patients were studied (238 FDCM, 707 SDCM, and 315 not disclosed). Patients with FDCM were younger (P < 0.01), had less severe disease phenotype at presentation (P < 0.02), more favourable baseline cardiovascular risk profiles (P ≤ 0.007), and less medication use (P ≤ 0.042). Outcome at 1 year was similar and predicted by NYHA class (HR 0.45; 95% CI [0.25–0.81]) and LVEF per % decrease (HR 1.05; 95% CI [1.02–1.08]. Throughout Europe, patients with FDCM received more genetic testing (47% vs. 8%, P < 0.01) and had higher genetic yield (55% vs. 22%, P < 0.01).ConclusionsWe observed that FDCM and SDCM have significant differences at baseline but similar short‐term prognosis. Whether modification of associated cardiovascular risk factors provide opportunities for treatment remains to be investigated. Our results also show a prevalent role of genetics in FDCM and a non‐marginal yield in SDCM although genetic testing is largely neglected in SDCM. Limited genetic testing and heterogeneity in panels provides a scaffold for improvement of guideline adherence.

Published
2021

6. Outcomes of patients with left ventricular noncompaction and preserved ejection fraction

Author

Casas, G, primary, Escalona, R, additional, Gonzalez Del Hoyo, MI, additional, Palomino-Doza, J, additional, Garcia-Pinilla, JM, additional, Bayes-Genis, A, additional, Ripoll-Vera, T, additional, Jimenez-Jaimez, J, additional, Villacorta, E, additional, Gimeno-Blanes, JR, additional, Zorio, E, additional, Garcia-Pavia, P, additional, Barriales-Villa, R, additional, Ferreira-Gonzalez, I, additional, and Rodriguez-Palomares, JF, additional

Published
2022
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7. Prognostic role of cardiac magnetic resonance in left ventricular noncompaction

Author

Casas, G, primary, Limeres, J, additional, Barriales-Villa, R, additional, Garcia-Pavia, P, additional, Zorio, E, additional, Gimeno-Blanes, JR, additional, Palomino-Doza, J, additional, Garcia-Pinilla, JM, additional, Bayes-Genis, A, additional, Ripoll-Vera, T, additional, Jimenez-Jaimez, J, additional, Villacorta, E, additional, Evangelista, A, additional, Ferreira-Gonzales, I, additional, and Rodriguez-Palomares, JF, additional

Published
2021
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8. Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction

Author

Casas, G, Limeres, J, Oristrell, G, Gutierrez-Garcia, L, Andreini, D, Borregan, M, Larranaga-Moreira, JM, Lopez-Sainz, A, Codina-Sola, M, Teixido-Tura, G, Sorolla-Romero, JA, Fernandez-Alvarez, P, Gonzalez-Carrillo, J, Guala, A, La Mura, L, Soler-Fernandez, R, Aviles, AS, Santos-Mateo, JJ, Marsal, JR, Ribera, A, de la Pompa, JL, Villacorta, E, Jimenez-Jaimez, J, Ripoll-Vera, T, Bayes-Genis, A, Garcia-Pinilla, JM, Palomino-Doza, J, Tiron, C, Pontone, G, Bogaert, J, Aquaro, GD, Gimeno-Blanes, JR, Zorio, E, Garcia-Pavia, P, Barriales-Villa, R, Evangelista, A, Masci, PG, Ferreira-Gonzalez, I, and Rodriguez-Palomares, JF

Subjects
late gadolinium enhancement, physiologic hypertrabeculation, genotype, left ventricular ejection fraction, cardiovascular diseases, noncompaction cardiomyopathy, major adverse cardiovascular events
Abstract

BACKGROUND Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis. OBJECTIVES This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up. METHODS This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance. MACE were defined as heart failure (HF), ventricular arrhythmias (VAs), systemic embolisms, or all-cause mortality. RESULTS A total of 585 patients were included (45 +/- 20 years of age, 57% male). LV ejection fraction (LVEF) was 48% +/- 17%, and 18% presented late gadolinium enhancement (LGE). After a median follow-up of 5.1 years, MACE occurred in 223 (38%) patients: HF in 110 (19%), VAs in 87 (15%), systemic embolisms in 18 (3%), and 34 (6%) died. LVEF was the main variable independently associated with MACE (P < 0.05). LGE was associated with HF and VAs in patients with LVEF > 35% (P < 0.05). A prediction model of MACE was developed using Cox regression, composed by age, sex, electrocardiography, cardiovascular risk factors, LVEF, and family aggregation. C-index was 0.72 (95% confidence interval: 0.67-0.75) in the derivation cohort and 0.72 (95% confidence interval: 0.71-0.73) in an external validation cohort. Patients with no electrocardiogram abnormalities, LVEF $50%, no LGE, and negative family screening presented no MACE at follow-up. CONCLUSIONS LVNC is associated with an increased risk of heart failure and ventricular arrhythmias. LVEF is the variable most strongly associated with MACE; however, LGE confers additional risk in patients without severe systolic dysfunction. A risk prediction model is developed and validated to guide management.

Published
2021

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

Author

Lopes, LR, Garcia-Hernandez, S, Lorenzini, M, Futema, M, Chumakova, O, Zateyshchikov, D, Isidoro-Garcia, M, Villacorta, E, Escobar-Lopez, L, Garcia-Pavia, P, Bilbao, R, Dobarro, D, Sandin-Fuentes, M, Catalli, C, Gener Querol, B, Mezcua, A, Garcia Pinilla, J, Rasmussen, TB, Ferreira-Aguar, A, Revilla-Marti, P, Basurte Elorz, MT, Bautista Paves, A, Ramon Gimeno, J, Figueroa, AV, Franco-Gutierrez, R, Fuentes-Canamero, ME, Martinez Moreno, M, Ortiz-Genga, M, Piqueras-Flores, J, Ramos, KA, Rudzitis, A, Ruiz-Guerrero, L, Stein, R, Triguero-Bocharan, M, de la Higuera, L, Ochoa, JP, Abu-Bonsrah, D, Kwok, CYT, Smith, JB, Porrello, ER, Akhtar, MM, Jager, J, Ashworth, M, Syrris, P, Elliott, DA, Monserrat, L, Elliott, PM, Lopes, LR, Garcia-Hernandez, S, Lorenzini, M, Futema, M, Chumakova, O, Zateyshchikov, D, Isidoro-Garcia, M, Villacorta, E, Escobar-Lopez, L, Garcia-Pavia, P, Bilbao, R, Dobarro, D, Sandin-Fuentes, M, Catalli, C, Gener Querol, B, Mezcua, A, Garcia Pinilla, J, Rasmussen, TB, Ferreira-Aguar, A, Revilla-Marti, P, Basurte Elorz, MT, Bautista Paves, A, Ramon Gimeno, J, Figueroa, AV, Franco-Gutierrez, R, Fuentes-Canamero, ME, Martinez Moreno, M, Ortiz-Genga, M, Piqueras-Flores, J, Ramos, KA, Rudzitis, A, Ruiz-Guerrero, L, Stein, R, Triguero-Bocharan, M, de la Higuera, L, Ochoa, JP, Abu-Bonsrah, D, Kwok, CYT, Smith, JB, Porrello, ER, Akhtar, MM, Jager, J, Ashworth, M, Syrris, P, Elliott, DA, Monserrat, L, and Elliott, PM

Abstract

AIMS: The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. METHODS AND RESULTS: In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94-30.02, P = 8.05e-11] compared to the Genome Aggregation Database (gnomAD) population. In a validation cohort of 2047 HCM probands, 32 (1.56%) carried heterozygous ALPK3tv (OR 16.17, 95% CI 10.31-24.87, P < 2.2e-16, compared to gnomAD). Combined logarithm of odds score in seven families with ALPK3tv was 2.99. In comparison with a cohort of genotyped patients with HCM (n = 1679) with and without pathogenic sarcomere gene variants (SP+ and SP-), ALPK3tv carriers had a higher prevalence of apical/concentric patterns of hypertrophy (60%, P < 0.001) and of a short PR interval (10%, P = 0.009). Age at diagnosis and maximum left ventricular wall thickness were similar to SP- and left ventricular systolic impairment (6%) and non-sustained ventricular tachycardia (31%) at baseline similar to SP+. After 5.3 ± 5.7 years, 4 (9%) patients with ALPK3tv died of heart failure or had cardiac transplantation (log-rank P = 0.012 vs. SP- and P = 0.425 vs. SP+). Imaging and histopathology showed extensive myocardial fibrosis and myocyte vacuolation. CONCLUSIONS: Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype.

Published
2021

11. Long term outcomes in left ventricular noncompaction

Author

Casas, G, primary, Limeres, J, additional, Oristrell, G, additional, Gutierrez, L, additional, Barriales, R, additional, Garcia-Pavia, P, additional, Zorio, E, additional, Gimeno, JR, additional, Villacorta, E, additional, Jimenez-Jaimez, J, additional, Ripoll, T, additional, Bayes, A, additional, Ferreira, I, additional, and Rodriguez-Palomares, JF, additional

Published
2021
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12. Long term outcomes in left ventricular non-compaction

Author

Casas, G, primary, Oristrell, G, additional, Limeres, J, additional, Gutierrez Garcia-Moreno, L, additional, Barriales, R, additional, Garcia-Pavia, P, additional, Zorio, E, additional, Gimeno, J.R, additional, Villacorta, E, additional, Jimenez-Jaimez, J, additional, Ripoll, T, additional, Bayes, A, additional, Diez, C, additional, Ferreira, I, additional, and Rodriguez-Palomares, J.F, additional

Published
2020
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13. P1442 Outcomes of patients with left ventricular noncompaction and preserved ejection fraction

Author

Casas, G, primary, Oristrell, G, additional, Limeres, J, additional, Barriales, R, additional, Gimeno, J R, additional, Garcia Pavia, P, additional, Zorio, E, additional, Villacorta, E, additional, Jimenez Jaimez, J, additional, Bayes, A, additional, Garcia Pinilla, J M, additional, Palomino, A J, additional, Evangelista, A, additional, Ferreira, I, additional, and Rodriguez-Palomares, J F, additional

Published
2020
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14. P1441 Predictors of systemic embolisms in a large cohort of left ventricular noncompaction patients

Author

Casas, G, primary, Oristrell, G, additional, Limeres, J, additional, Barriales, R, additional, Gimeno, J R, additional, Garcia Pavia, P, additional, Zorio, E, additional, Villacorta, E, additional, Jimenez Jaimez, J, additional, Bayes, A, additional, Garcia Pinilla, J M, additional, Palomino, A J, additional, Evangelista, A, additional, Ferreira, I, additional, and Rodriguez-Palomares, J F, additional

Published
2020
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16. FHOD3 is a novel disease causing gene in hypertrophic cardiomyopathy

Author

Ochoa, J. P., Sabater-Molina, M., Garcia-Pinilla, J. M., Restrepo-Cordoba, A., Palomino-Doza, A. J., Limeres-Freire, J., Climent-Paya, V., Villacorta, E., Garcia-Granja, P. E., Bautista-Paves, A., Barriales-Villa, R., Mogensen, J., Elliott, P. M., Gimeno, J. R., and Monserrat, L.

Published
2018

17. P5555Predictors of systemic embolisms in a large cohort of left ventricular noncompaction patients

Author

Casas, G, primary, Oristrell, G, additional, Limeres, J, additional, Sao-Aviles, A, additional, Barriales, R, additional, Garcia-Pavia, P, additional, Diez, C, additional, Zorio, E, additional, Villacorta, E, additional, De Antonio, M, additional, Garcia-Pinilla, J M, additional, Valverde, M, additional, Evangelista, A, additional, Ferreira-Gonzalez, I, additional, and Rodriguez-Palomares, J F, additional

Published
2019
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21. 244. Seudoaneurisma del seno de valsalva

Author

Montoto López, J., primary, Legarra Calderón, J.J., additional, Lugo Adán, J.C., additional, Casais Pampín, R., additional, Asorey Veiga, V., additional, Casquero Villacorta, E., additional, Piñón Esteban, M.A., additional, Rasheed, S., additional, Durán Muñoz, D., additional, and Pradas Montilla, G., additional

Published
2010
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32. P84 244. Seudoaneurisma del seno de valsalva

Author

Montoto López, J., Legarra Calderón, J.J., Lugo Adán, J.C., Casais Pampín, R., Asorey Veiga, V., Casquero Villacorta, E., Piñón Esteban, M.A., Rasheed, S., Durán Muñoz, D., and Pradas Montilla, G.

Abstract

El seudoaneurisma del seno de Valsalva constituye una afección aórtica sumamente infrecuente; por encima, incluso, de los aneurismas congénitos. Su etiología engloba desde casos traumáticos e infecciosos hasta otros de naturaleza idiopática.Presentamos el caso de un varón de 74 años, con varios ingresos cardiológicos previos por infarto de miocardio y clínica sincopal y de dolor torácico atípico, en el que las pruebas diagnósticas angiográficas y de resonancia magnética pusieron de manifiesto un seudoaneurisma de génesis espontánea a nivel del seno coronariano izquierdo. Asociaba, además, dilatación de aorta ascendente e insuficiencia aórtica grave sobre una válvula bicúspide. La corrección se llevó a cabo mediante sustitución valvular aórtica y de aorta ascendente sinusal y tubular proximal mediante tubo valvulado de dacrón (prótesis biológica), con buen resultado quirúrgico. En el periodo postoperatorio precisó implantación de marcapasos definitivo por fibrilación auricular (FA) con bloqueo auriculoventricular (AV) completo. El paciente se halla, en la actualidad y tras 8 meses de seguimiento, asintomático.

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33. CB33 208. Estudio comparativo entre dos técnicas de ablación epicárdica de la aurícula izquierda: Crioablación frente a ultrasonidos

Author

Asorey Veiga, V., Casquero Villacorta, E., Durán Muñoz, D., Casais Pampín, R., Lugo Adán, J., Montoto, J., Piñón Esteban, M.A., Yas, S.R., Legarra Calderón, J.J., and Pradas Montilla, G.

Abstract

ObjetivoComparación entre la ablación con criotermia (CT) y con ultrasonidos (US) desde la superficie epicárdica en pacientes intervenidos por otra cardiopatía para valorar su seguridad y eficacia a corto y medio plazo.Material y métodosEntre julio de 2006 y septiembre de 2009 fueron tratados 86 pacientes (52hombres/34 mujeres) con US, de edad media 74,15 años, fibrilación auricular (FA) crónica en 60 (69,8%) y 33 (15 hombres/18mujeres) con crioablación, de edad media 73,09 años, FA crónica en 78,8%.Todos fueron intervenidos para tratar su cardiopatía principal. Se hizo un seguimiento al alta, al mes, a los 3, 6, 12meses y anualmente, en el 100% de los pacientes.ResultadosMortalidad hospitalaria: 9 (10,6%) y 3 (9,1%) pacientes con ambas técnicas. No hubo complicaciones relacionadas con la técnica (Tabla 1).ConclusionesEn nuestra experiencia, con la crioablación y US no se ha encontrado ninguna diferencia estadística significativa entre ambas.

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34. P71 204. Crioablación de la fibrilación auricular: 2 años de seguimiento

Author

Asorey Veiga, V., Casquero Villacorta, E., Durán Muñoz, D., Casais Pampín, R., Lugo, J.A., Montoto, J., Piñón Esteban, M.A., Yas, S.R., Legarra Calderón, J.J., and Pradas Montilla, G.

Abstract

ObjetivoEvaluar los resultados de la crioablación de la fibrilación auricular (FA) en pacientes sometidos a otra cirugía cardíaca.Material y métodosEntre julio de 2006 y septiembre de 2009 fueron tratados 152 pacientes (70 hombres/82 mujeres) con edad media de 69,85 años, FA crónica en 122 (80,3%) pacientes, paroxística en 19 (12,5%), y 3 (2%) en flutter, intervenidos de cirugía polivalvular y/o combinada 93, mitral 41, valvular aórtica 13, y coronaria 3. Se realizó de forma endocárdica en el 78,3% y biauricular en 5 pacientes. Ligadura de orejuela izquierda: 79,1%. Se hizo revisión al alta, al mes, a los 3, 6, 12 meses y anualmente. Seguimiento medio de 17 meses (100% de los pacientes).ResultadosMortalidad hospitalaria: 16 (10,5%) pacientes, sin relación con la técnica. Mortalidad tardía: 10 (7,4%) pacientes. Necesidad de marcapasos 7 (4,6%) pacientes (Tabla 1). Tabla 1RitmoAlta1 mes3 meses6 meses1 año2 añosN.° pacientes1361351341220853Sinusal61,7%58,5%62,7%71,3%73,1% (76,5*/60,9†)67,9%FA28,6%31,8%28,3%21,3%19,5%26,4%Marcapasos9,6%9,6%9%3,3%7,4%5,7%Anti arrítmico59,5%60%63,4%59%54,6%39,6%ACO97,1%92,5%88%83,6%68,2%62,3%Ablación:*endocárdica;†epicárdica.ConclusionesLa curación de la FA es posible y segura mediante crioablación, si bien son necesarios estudios más amplios en cuanto a tamaño muestral y seguimiento. Nuestros resultados son similares a los publicados en la literatura.

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35. P82 238. ¿Es segura la reintervención dejando los injertos arteriales permeables sin clampar?

Author

Casais Pampín, R., Asorey Veiga, V., Lugo Adán, J., Montoto López, J., Legarra Calderón, J.J., Casquero Villacorta, E., Piñón Esteban, M., Yas, S., Duran Muñoz, D., and Pradas Montilla, G.

Abstract

ObjetivoEl objetivo de no dañar la arteria mamaria evitando su disección y clampaje supone un reto para la protección miocárdica debido al lavado de la cardioplejía.Presentamos nuestra experiencia en reintervenciones sin disecar ni clampar los injertos arteriales.Material y métodosDesde septiembre de 2000 hasta febrero de 2010 se realizaron 29 reintervenciones en 28 pacientes, (89,7% varones), edad media 73,17±7,38años. Las causas de reoperación fueron: progresión de valvulopatía 17 pacientes (58,6%), endocarditis 10 (34,4%), disfunción protésica no estructural 2 (6,9%). La mediana del EuroS-CORE logístico fue 14,84 (4-77,25). La cirugía fue urgente en 7 pacientes. Se realizó sustitución valvular aórtica aislada en 18 y se asoció revascularización en 4, sustitución/plastia mitral en 4, sustitución de aorta en 2; sustitución mitral aislada en 1.La protección miocárdica se realizó con cardioplejía hemática con esmolol, K+ y Mg+, administrándola siempre que no dificultaba el trabajo quirúrgico (intervalos nunca > 20min). Temperatura sistémica media 32,26±3,23 °C.ResultadosLa mediana del tiempo de circulación extracorpórea (CEC) fue 153 (91-494) y de clampaje 103 (71-430)min. Presentaron infarto postoperatorio 1 paciente (3,4%) y síndrome de bajo gasto postoperatorio 2 pacientes (6,5%). La mediana de troponina I postoperatoria fue 7,03ng/ml (1,84-109,5). La mortalidad hospitalaria fue 3 pacientes (10,3%) (cirugía urgente por endocarditis). Las causas de mortalidad fueron: daño neurológico irreversible (1 paciente), sepsis y bajo gasto (2 pacientes). La mediana de estancia hospitalaria fue 7 (1-33) días.ConclusiónEn nuestra experiencia, sin clampar los injertos arteriales y con la estrategia descrita, la protección miocárdica parece adecuada y la mortalidad hospitalaria aceptable.

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36. 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

37. Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation.

Author

Ochoa JP, Espinosa MÁ, Gayan-Ordas J, Fernández-Valledor A, Gallego-Delgado M, Tirón C, Lozano-Ibañez A, García-Pinilla JM, Rodríguez-Palomares JF, Larrañaga-Moreira JM, Llamas-Gómez H, Ripoll-Vera T, Braza-Boïls A, Vilches S, Méndez I, Bascompte-Claret R, García-Álvarez A, Villacorta E, Fernandez-Lozano I, Lara-Pezzi E, and Garcia-Pavia P

Abstract

Background: Genetic disease has recently emerged as a cause of cardiac conduction disorders (CCDs), but the diagnostic yield of genetic testing and the contribution of the different genes to CCD is still unsettled., Objectives: This study sought to determine the diagnostic yield of genetic testing in young adults with CCD of unknown etiology requiring pacemaker implantation. We also studied the prevalence of rare protein-altering variants across individual genes and functional gene groups., Methods: We performed whole exome sequencing in 150 patients with CCD of unknown etiology who had permanent pacemaker implanted at age ≤60 years at 14 Spanish hospitals. Prevalence of rare protein-altering variants in patients with CCD was compared with a reference population of 115,522 individuals from gnomAD database (control subjects)., Results: Among 39 prioritized genes, patients with CCD had more rare protein-altering variants than control subjects (OR: 2.39; 95% CI: 1.75-3.33). Significant enrichment of rare variants in patients with CCD was observed in all functional gene groups except in the desmosomal genes group. Rare variants in the nuclear envelope genes group exhibited the strongest association with CCD (OR: 6.77; 95% CI: 3.71-13.87). Of note, rare variants in sarcomeric genes were also enriched (OR: 1.73; 95% CI: 1.05-3.10). An actionable genetic variant was detected in 21 patients (14%), with LMNA being the most frequently involved gene (4.6%)., Conclusions: Unrecognized rare genetic variants increase the risk of CCD in young adults with CCD of unknown etiology. Genetic testing should be performed in patients age ≤60 years with CCD of unknown etiology. The role of genetic variants in sarcomeric genes as a cause of CCD should be further investigated., Competing Interests: Funding Support and Author Disclosures This study has been funded by Instituto de Salud Carlos III (ISCIII) through the projects "PI17/01941 and PI20/01379” (cofunded by European Regional Development Fund/European Social Fund "A way to make Europe"/"Investing in your future"). The CNIC is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoa Centers of Excellence program (CEX2020-001041-S). The Hospital Universitario Puerta de Hierro, the Hospital Gregorio Marañón, and the Vall Hebron Hospital are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart. Dr Ochoa is employee of Health in Code. Dr Braza-Boïls is supported by Marató TV3 (736/C/2020) and Health Research Institute La Fe. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2024
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38. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.

Author

Cabrera-Romero E, Ochoa JP, Barriales-Villa R, Bermúdez-Jiménez FJ, Climent-Payá V, Zorio E, Espinosa MA, Gallego-Delgado M, Navarro-Peñalver M, Arana-Achaga X, Piqueras-Flores J, Espejo-Bares V, Rodríguez-Palomares JF, Lacuey-Lecumberri G, López J, Tiron C, Peña-Peña ML, García-Pinilla JM, Lorca R, Ripoll-Vera T, Díez-López C, Mogollon MV, García-Álvarez A, Martínez-Dolz L, Brion M, Larrañaga-Moreira JM, Jiménez-Jáimez J, García-Álvarez MI, Vilches S, Villacorta E, Sabater-Molina M, Solla-Ruiz I, Royuela A, Domínguez F, Mirelis JG, and Garcia-Pavia P

Subjects
Adult, Female, Humans, Male, Middle Aged, Young Adult, Connectin genetics, Electrocardiography, Follow-Up Studies, Spain epidemiology, Retrospective Studies, Cardiomyopathy, Dilated genetics, Cardiomyopathy, Dilated physiopathology, Genotype, Penetrance
Abstract

Background: Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown., Objectives: This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development., Methods: The authors evaluated 779 G+ patients (age 35.8 ± 17.3 years; 459 [59%] females; 367 [47%] with variants in TTN) without DCM followed at 25 Spanish centers., Results: After a median follow-up of 37.1 months (Q1-Q3: 16.3-63.8 months), 85 individuals (10.9%) developed DCM (incidence rate of 2.9 per 100 person-years; 95% CI: 2.3-3.5 per 100 person-years). DCM penetrance and age at DCM onset was different according to underlying gene group (log-rank P = 0.015 and P <0.01, respectively). In a multivariable model excluding CMR parameters, independent predictors of DCM development were: older age (HR per 1-year increase: 1.02; 95% CI: 1.0-1.04), an abnormal electrocardiogram (HR: 2.13; 95% CI: 1.38-3.29); presence of variants in motor sarcomeric genes (HR: 1.92; 95% CI: 1.05-3.50); lower left ventricular ejection fraction (HR per 1% increase: 0.86; 95% CI: 0.82-0.90) and larger left ventricular end-diastolic diameter (HR per 1-mm increase: 1.10; 95% CI: 1.06-1.13). Multivariable analysis in individuals with cardiac magnetic resonance and late gadolinium enhancement assessment (n = 360, 45%) identified late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45)., Conclusions: Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years. Older age, an abnormal electrocardiogram, lower left ventricular ejection fraction, increased left ventricular end-diastolic diameter, motor sarcomeric genetic variants, and late gadolinium enhancement are associated with a higher risk of developing DCM., Competing Interests: Funding Support and Author Disclosures This study was funded by the Spanish Society of Cardiology (Grant in Inherited Cardiac Diseases 2022) and the Instituto de Salud Carlos III through the projects “PI18/0004, PI20/0320” (Co-funded by European Regional Development Fund/European Social Fund “A way to make Europe”/“Investing in your future”). The CNIC is supported by the ISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoa Centers of Excellence program (CEX2020-001041-S). The Hospital Universitario Puerta de Hierro, Hospital Clínic, Hospital Vall Hebron, Hospital Virgen del Rocío, Hospital Universitario Gregorio Marañon, and the Hospital Universitario Virgen de la Arrixaca are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart. The authors have reported that they have no relationships relevant to the contents of this paper to disclose., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2024
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39. Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.

Author

Gallego-Delgado M, Cámara-Checa A, Rubio-Alarcón M, Heredero-Jung D, de la Fuente-Blanco L, Rapún J, Plata-Izquierdo B, Pérez-Martín S, Cebrián J, Moreno de Redrojo L, García-Berrocal B, Delpón E, Sánchez PL, Villacorta E, and Caballero R

Subjects
Humans, Animals, CHO Cells, Female, Male, Adult, Middle Aged, Spain, Loss of Function Mutation, Phenotype, Mutation, NAV1.5 Voltage-Gated Sodium Channel genetics, NAV1.5 Voltage-Gated Sodium Channel metabolism, Penetrance, Cricetulus, Pedigree
Abstract

A novel rare mutation in the pore region of Nav1.5 channels (p.L889V) has been found in three unrelated Spanish families that produces quite diverse phenotypic manifestations (Brugada syndrome, conduction disease, dilated cardiomyopathy, sinus node dysfunction, etc.) with variable penetrance among families. We clinically characterized the carriers and recorded the Na + current (I Na ) generated by p.L889V and native (WT) Nav1.5 channels, alone or in combination, to obtain further insight into the genotypic-phenotypic relationships in patients carrying SCN5A mutations and in the molecular determinants of the Nav1.5 channel function. The variant produced a strong dominant negative effect (DNE) since the peak I Na generated by p.L889V channels expressed in Chinese hamster ovary cells, either alone (-69.4 ± 9.0 pA/pF) or in combination with WT (-62.2 ± 14.6 pA/pF), was significantly (n ≥ 17, p < 0.05) reduced compared to that generated by WT channels alone (-199.1 ± 44.1 pA/pF). The mutation shifted the voltage dependence of channel activation and inactivation to depolarized potentials, did not modify the density of the late component of I Na , slightly decreased the peak window current, accelerated the recovery from fast and slow inactivation, and slowed the induction kinetics of slow inactivation, decreasing the fraction of channels entering this inactivated state. The membrane expression of p.L889V channels was low, and in silico molecular experiments demonstrated profound alterations in the disposition of the pore region of the mutated channels. Despite the mutation producing a marked DNE and reduction in the I Na and being located in a critical domain of the channel, its penetrance and expressivity are quite variable among the carriers. Our results reinforce the argument that the incomplete penetrance and phenotypic variability of SCN5A loss-of-function mutations are the result of a combination of multiple factors, making it difficult to predict their expressivity in the carriers despite the combination of clinical, genetic, and functional studies., Competing Interests: The authors declare no conflicts of interest.

Published
2024
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40. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation.

Author

de Frutos F, Ochoa JP, Fernández AI, Gallego-Delgado M, Navarro-Peñalver M, Casas G, Basurte MT, Larrañaga-Moreira JM, Mogollón MV, Robles-Mezcua A, García-Granja PE, Climent V, Palomino-Doza J, García-Álvarez A, Brion M, Brugada R, Jiménez-Jáimez J, Bayes-Genis A, Ripoll-Vera T, Peña-Peña ML, Rodríguez-Palomares JF, Gonzalez-Carrillo J, Villacorta E, Espinosa MA, Garcia-Pavia P, and Mirelis JG

Subjects
Female, Humans, Middle Aged, Male, Contrast Media, Gadolinium, Stroke Volume, Ventricular Function, Left, Arrhythmias, Cardiac, Genetic Association Studies, Predictive Value of Tests, Magnetic Resonance Imaging, Cine, Adaptor Proteins, Signal Transducing genetics, Apoptosis Regulatory Proteins genetics, Cardiomyopathy, Dilated diagnostic imaging, Cardiomyopathy, Dilated genetics, Cardiomyopathy, Dilated complications
Abstract

Aims: Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns., Methods and Results: Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, left ventricular ejection fraction 36.9 ± 13.9%) conformed to the final cohort. A causative genetic variant was identified in 219 (38%) patients, and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2, RBM20, and MYH7 (0, 5, and 20%, respectively). Patients with variants in DMD, DSP, and FLNC showed a predominance of LGE subepicardial patterns (50, 41, and 18%, respectively), whereas patients with variants in TTN, BAG3, LMNA, and MYBPC3 showed unspecific LGE patterns. The genetic yield differed according to LGE patterns. Patients with subepicardial, lineal midwall, transmural, and right ventricular insertion points or with combinations of LGE patterns showed an increased risk of MVA compared with patients without LGE., Conclusion: LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing., Competing Interests: Conflict of interest: None declared., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Published
2023
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41. [Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis].

Author

Gallego Delgado M, Gayán Ordás J, Eiros R, García Berrocal B, Sánchez PL, and Villacorta E

Subjects
Humans, Male, Female, Aged, Retrospective Studies, Aged, 80 and over, Prevalence, Genetic Testing, Spain epidemiology, Mutation, Amyloid Neuropathies, Familial genetics, Amyloid Neuropathies, Familial diagnosis, Prealbumin genetics, Cardiomyopathies genetics, Cardiomyopathies epidemiology
Abstract

Background and Objective: Cardiac transthyretin amyloidosis (CA-ATTR) is a prevalent disease with age. Genetic study is recommended, even in eldest patients. We aim to analyze the prevalence of hereditary transthyretin amyloidosis (ATTRv) in elderly patients (≥75years) with CA-ATTR and its implications., Patients and Methodology: Retrospective observational study of the cohort of elderly patients with CA-ATTR diagnosed according to the international recommended protocol. We analyze the results of sequencing TTR gene, the differential characteristics and their clinical implications., Results: Between 2016 and 2022, 130 elderly patients (89% cohort) were diagnosed with CA-ATTR (85% male). In 8 of the 123 patients with a genetic study, a pathogenic variant in TTR was identified (6.5%), initiating specific treatment in 4 subjects (50%). The family study identified another case and 6 asymptomatic carriers. There were no significant differences between baseline characteristics or in clinical events., Conclusions: The prevalence of ATTRv in elderly patients with CA-ATTR was 6.5% without observing differential characteristics that allow guiding a selective indication of genetic analysis., (Copyright © 2023 Elsevier España, S.L.U. All rights reserved.)

Published
2023
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42. Interprofessional Education: An Innovative Approach to Increase the Human Immunodeficiency Virus Workforce.

Author

Person AK, Harris SJ, Burdge J, Blue AV, Leedy NE, Villacorta E, Justo JA, Black E, Janelle J, Ahuja D, and Chastain CA

Abstract

Ending the human immunodeficiency virus (HIV) epidemic relies on a robust clinical workforce. The Southeast AIDS Education and Training Center's interprofessional education program is a novel approach to increasing the interest and ability of early health professional learners to provide high-quality, comprehensive, person-first care for people with HIV. Key Points: Interprofessional education (IPE) focusing on multidisciplinary care for people with HIV can serve as a novel way to increase the HIV workforce. This brief report describes the IPE program of the Southeast AIDS Education and Training Center., Competing Interests: Potential conflicts of interest. J. A. J. has served on the advisory boards for Entasis Therapeutics, Gilead Sciences, and Shionogi and has served as a speaker for Spero Therapeutics. All other authors report no potential conflicts., (© The Author(s) 2023. Published by Oxford University Press on behalf of Infectious Diseases Society of America.)

Published
2023
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43. Burden of untreated transthyretin amyloid cardiomyopathy on patients and their caregivers by disease severity: results from a multicenter, non-interventional, real-world study.

Author

Ponti L, Hsu K, Damy T, Villacorta E, Verheyen N, Keohane D, Wang R, Ines M, Kumar N, Munteanu C, and Cappelli F

Abstract

Background: The humanistic burden of transthyretin amyloid cardiomyopathy (ATTR-CM) is poorly defined., Methods: An international study to comprehensively characterize the burden of ATTR-CM on patients naïve to disease-modifying therapy and their unpaid primary caregivers using study-specific and established surveys (patients: Kansas City Cardiomyopathy Questionnaire Overall Summary [KCCQ-OS], 12-Item Short Form Health Survey [SF-12], Hospital Anxiety and Depression Scale [HADS], Patient-Reported Outcomes Measurement Information System [PROMIS] Fatigue and Dyspnea; caregivers: SF-12, HADS, PROMIS Fatigue, Zarit Burden Interview [ZBI]). All data were summarized descriptively., Results: 208 patient and caregiver pairs were included. 86% of patients were male, median age was 81 years, and 91% (141/155 with genetic testing) had wild-type ATTR-CM. Patient responses characterized the mental and physical burden of ATTR-CM, which was numerically higher among those who were New York Heart Association (NYHA) class III ( n  = 43) vs. class I/II ( n  = 156). NYHA class III patients had particularly low KCCQ-OS (36) and SF-12 physical component (27) scores, and 67% had a HADS depression score ≥8. Caregivers (median age 68 years; 85% female; 59% spouse of the patient; median duration of caregiving 1.5 years) reported that NYHA III patients more frequently required help with a range of physical activities than NYHA class I/II patients. 51% of caregivers to NYHA class III patients reported at least a mild-to-moderate burden in the ZBI. A plain language summary of this paper can be found as a supplemental material., Conclusions: Untreated ATTR-CM is a burden to both patients and their caregivers., Competing Interests: DK, RW, MI, NK, and CM are employees of Pfizer and hold stock/stock options. TD has received consulting fees from Alnylam, GlaxoSmithKline, Pfizer, and Prothena; honoraria from Alnylam, Pfizer, and Prothena; research grants from GlaxoSmithKline and Pfizer; and clinical trial support from Alnylam, Ionis, and Pfizer. The institution that EV is employed by has received an unconditional research grant from Pfizer. NV has received research grant, honoraria for advisory board participation, and speaker's fees from Pfizer. FC reports honoraria for advisory board participation from Pfizer, Alnylam, Novo Nordisk, and Akcea; his institution has received an unconditional research grant from Pfizer. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. This study was supported by Pfizer. Pfizer contributed to the study design, management, and collection of data. In their role as authors, employees of Pfizer were involved in the design or conduct of the study, interpretation of data, preparation, review, and approval of the manuscript and the decision to submit for publication, along with their co-authors. The study sponsor approved the manuscript from an intellectual property perspective, but had no right to veto the publication., (© 2023 Ponti, Hsu, Damy, Villacorta, Verheyen, Keohane, Wang, Ines, Kumar, Munteanu and Cappelli.)

Published
2023
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45. [Pericardial and myocardial involvement after SARS-CoV-2 infection: a cross-sectional descriptive study in healthcare workers].

Author

Eiros R, Barreiro-Pérez M, Martín-García A, Almeida J, Villacorta E, Pérez-Pons A, Merchán S, Torres-Valle A, Sánchez-Pablo C, González-Calle D, Pérez-Escurza O, Toranzo I, Díaz-Peláez E, Fuentes-Herrero B, Macías-Álvarez L, Oliva-Ariza G, Lecrevisse Q, Fluxa R, Bravo-Grande JL, Orfao A, and Sánchez PL

Abstract

Introduction and Objectives: The cardiac sequelae of SARS-CoV-2 infection are still poorly documented. We conducted a cross-sectional study in healthcare workers to report evidence of pericardial and myocardial involvement after SARS-CoV-2 infection., Methods: We studied 139 healthcare workers with confirmed past SARS-CoV-2 infection. Participants underwent clinical assessment, electrocardiography, and laboratory tests, including immune cell profiling and cardiac magnetic resonance (CMR). Clinically suspected pericarditis was diagnosed when classic criteria were present and clinically suspected myocarditis was based on the combination of at least 2 CMR criteria., Results: Median age was 52 (41-57) years, 71.9% were women, and 16.5% were previously hospitalized for COVID-19 pneumonia. On examination (10.4 [9.3-11.0] weeks after infection-like symptoms), participants showed hemodynamic stability. Chest pain, dyspnea or palpitations were present in 41.7% participants, electrocardiographic abnormalities in 49.6%, NT-proBNP elevation in 7.9%, troponin in 0.7%, and CMR abnormalities in 60.4%. A total of 30.9% participants met criteria for either pericarditis and/or myocarditis: isolated pericarditis was diagnosed in 5.8%, myopericarditis in 7.9%, and isolated myocarditis in 17.3%. Most participants (73.2%) showed altered immune cell counts in blood, particularly decreased eosinophil (27.3%; P  < .001) and increased cytotoxic T cell numbers (17.3%; P < .001). Clinically suspected pericarditis was associated ( P < .005) with particularly elevated cytotoxic T cells and decreased eosinophil counts, while participants diagnosed with clinically suspected myopericarditis or myocarditis had lower ( P < .05) neutrophil counts, natural killer-cells, and plasma cells., Conclusions: Pericardial and myocardial involvement with clinical stability are frequent after SARS-CoV-2 infection and are associated with specific immune cell profiles. Full English text available from :www.revespcardiol.org/en., (© 2021 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2022
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47. Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.

Author

Gimeno JR, Olivotto I, Rodríguez AI, Ho CY, Fernández A, Quiroga A, Espinosa MA, Gómez-González C, Robledo M, Tojal-Sierra L, Day SM, Owens A, Barriales-Villa R, Larrañaga JM, Rodríguez-Palomares J, González-Del-Hoyo M, Piqueras-Flores J, Reza N, Chumakova O, Ashley EA, Parikh V, Wheeler M, Jacoby D, Pereira AC, Saberi S, Helms AS, Villacorta E, Gallego-Delgado M, de Castro D, Domínguez F, Ripoll-Vera T, Zorio-Grima E, Sánchez-Martínez JC, García-Álvarez A, Arbelo E, Mogollón MV, Fuentes-Cañamero ME, Grande E, Peña C, Monserrat L, and Lakdawala NK

Subjects
Humans, Male, Adult, Middle Aged, Aged, Female, SARS-CoV-2, Registries, COVID-19 complications, COVID-19 epidemiology, Cardiomyopathy, Hypertrophic complications, Cardiomyopathy, Hypertrophic epidemiology, Ventricular Dysfunction, Left complications, Atrial Fibrillation complications
Abstract

Aims: To describe the natural history of SARS-CoV-2 infection in patients with hypertrophic cardiomyopathy (HCM) compared with a control group and to identify predictors of adverse events., Methods and Results: Three hundred and five patients [age 56.6 ± 16.9 years old, 191 (62.6%) male patients] with HCM and SARS-Cov-2 infection were enrolled. The control group consisted of 91 131 infected individuals. Endpoints were (i) SARS-CoV-2 related mortality and (ii) severe clinical course [death or intensive care unit (ICU) admission]. New onset of atrial fibrillation, ventricular arrhythmias, shock, stroke, and cardiac arrest were also recorded. Sixty-nine (22.9%) HCM patients were hospitalized for non-ICU level care, and 21 (7.0%) required ICU care. Seventeen (5.6%) died: eight (2.6%) of respiratory failure, four (1.3%) of heart failure, two (0.7%) suddenly, and three (1.0%) due to other SARS-CoV-2-related complications. Covariates associated with mortality in the multivariable were age {odds ratio (OR) per 10 year increase 2.25 [95% confidence interval (CI): 1.12-4.51], P = 0.0229}, baseline New York Heart Association class [OR per one-unit increase 4.01 (95%CI: 1.75-9.20), P = 0.0011], presence of left ventricular outflow tract obstruction [OR 5.59 (95%CI: 1.16-26.92), P = 0.0317], and left ventricular systolic impairment [OR 7.72 (95%CI: 1.20-49.79), P = 0.0316]. Controlling for age and sex and comparing HCM patients with a community-based SARS-CoV-2 cohort, the presence of HCM was associated with a borderline significant increased risk of mortality OR 1.70 (95%CI: 0.98-2.91, P = 0.0600)., Conclusions: Over one-fourth of HCM patients infected with SARS-Cov-2 required hospitalization, including 6% in an ICU setting. Age and cardiac features related to HCM, including baseline functional class, left ventricular outflow tract obstruction, and systolic impairment, conveyed increased risk of mortality., (© 2022 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

Published
2022
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48. Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy.

Author

Mirelis JG, Escobar-Lopez L, Ochoa JP, Espinosa MÁ, Villacorta E, Navarro M, Casas G, Mora-Ayestarán N, Barriales-Villa R, Mogollón-Jiménez MV, García-Pinilla JM, García-Granja PE, Climent V, Palomino-Doza J, García-Álvarez A, Álvarez-Barredo M, Cabrera-Borrego E, Ripoll-Vera T, Peña-Peña ML, Rodríguez-González E, Gallego-Delgado M, Gonzalez-Carrillo J, Fernández-Ávila A, Rodríguez-Palomares JF, Brugada R, Bayes-Genis A, Dominguez F, and García-Pavía P

Subjects
Arrhythmias, Cardiac, Cicatrix, Contrast Media, Female, Gadolinium, Genotype, Humans, Magnetic Resonance Imaging, Cine, Male, Predictive Value of Tests, Prognosis, Retrospective Studies, Cardiomyopathy, Dilated, Heart Failure diagnosis, Heart Failure genetics
Abstract

Aims: Genotype and left ventricular scar on cardiac magnetic resonance (CMR) are increasingly recognized as risk markers for adverse outcomes in non-ischaemic dilated cardiomyopathy (DCM). We investigated the combined influence of genotype and late gadolinium enhancement (LGE) in assessing prognosis in a large cohort of patients with DCM., Methods and Results: Outcomes of 600 patients with DCM (53.3 ± 14.1 years, 66% male) who underwent clinical CMR and genetic testing were retrospectively analysed. The primary endpoints were end-stage heart failure (ESHF) and malignant ventricular arrhythmias (MVA). During a median follow-up of 2.7 years (interquartile range 1.3-4.9), 24 (4.00%) and 48 (8.00%) patients had ESHF and MVA, respectively. In total, 242 (40.3%) patients had pathogenic/likely pathogenic variants (positive genotype) and 151 (25.2%) had LGE. In survival analysis, positive LGE was associated with MVA and ESHF (both, p < 0.001) while positive genotype was associated with ESHF (p = 0.034) but not with MVA (p = 0.102). Classification of patients according to genotype (G+/G-) and LGE presence (L+/L-) revealed progressively increasing events across L-/G-, L-/G+, L+/G- and L+/G+ groups and resulted in optimized MVA and ESHF prediction (p < 0.001 and p = 0.001, respectively). Hazard ratios for MVA and ESHF in patients with either L+ or G+ compared with those with L-/G- were 4.71 (95% confidence interval: 2.11-10.50, p < 0.001) and 7.92 (95% confidence interval: 1.86-33.78, p < 0.001), respectively., Conclusion: Classification of patients with DCM according to genotype and LGE improves MVA and ESHF prediction. Scar assessment with CMR and genotyping should be considered to select patients for primary prevention implantable cardioverter-defibrillator placement., (© 2022 The Authors. European Journal of Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

Published
2022
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49. Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.

Author

Escobar-Lopez L, Ochoa JP, Mirelis JG, Espinosa MÁ, Navarro M, Gallego-Delgado M, Barriales-Villa R, Robles-Mezcua A, Basurte-Elorz MT, Gutiérrez García-Moreno L, Climent V, Jiménez-Jaimez J, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, García-Álvarez A, Brion M, Ripoll-Vera T, Palomino-Doza J, Tirón C, Idiazabal U, Brögger MN, García-Hernández S, Restrepo-Córdoba MA, Gonzalez-Lopez E, Méndez I, Sabater M, Villacorta E, Larrañaga-Moreira JM, Abecia A, Fernández AI, García-Pinilla JM, Rodríguez-Palomares JF, Gimeno-Blanes JR, Bayes-Genis A, Lara-Pezzi E, Domínguez F, and Garcia-Pavia P

Subjects
Adult, Aged, Arrhythmias, Cardiac physiopathology, Female, Genotype, Heart Ventricles, Humans, Longitudinal Studies, Male, Middle Aged, Retrospective Studies, Risk, Stroke Volume genetics, Treatment Outcome, Ventricular Dysfunction physiopathology, Ventricular Function, Left, Ventricular Remodeling, Cardiomyopathy, Dilated genetics, Genetic Variation, Heart Failure genetics
Abstract

Background: The clinical relevance of genetic variants in nonischemic dilated cardiomyopathy (DCM) is unsettled., Objectives: The study sought to assess the prognostic impact of disease-causing genetic variants in DCM., Methods: Baseline and longitudinal clinical data from 1,005 genotyped DCM probands were retrospectively collected at 20 centers. A total of 372 (37%) patients had pathogenic or likely pathogenic variants (genotype positive) and 633 (63%) were genotype negative. The primary endpoint was a composite of major adverse cardiovascular events. Secondary endpoints were end-stage heart failure (ESHF), malignant ventricular arrhythmia (MVA), and left ventricular reverse remodeling (LVRR)., Results: After a median follow-up of 4.04 years (interquartile range: 1.70-7.50 years), the primary endpoint had occurred in 118 (31.7%) patients in the genotype-positive group and in 125 (19.8%) patients in the genotype-negative group (hazard ratio [HR]: 1.51; 95% confidence interval [CI]: 1.17-1.94; P = 0.001). ESHF occurred in 60 (16.1%) genotype-positive patients and in 55 (8.7%) genotype-negative patients (HR: 1.67; 95% CI: 1.16-2.41; P = 0.006). MVA occurred in 73 (19.6%) genotype-positive patients and in 77 (12.2%) genotype-negative patients (HR: 1.50; 95% CI: 1.09-2.07; P = 0.013). LVRR occurred in 39.6% in the genotype-positive group and in 46.2% in the genotype-negative group (P = 0.047). Among individuals with baseline left ventricular ejection fraction ≤35%, genotype-positive patients exhibited more major adverse cardiovascular events, ESHF, and MVA than their genotype-negative peers (all P < 0.02). LVRR and clinical outcomes varied depending on the underlying affected gene., Conclusions: In this study, DCM patients with pathogenic or likely pathogenic variants had worse prognosis than genotype-negative individuals. Clinical course differed depending on the underlying affected gene., Competing Interests: Funding Support and Author Disclosures This work was supported by grants from the following institutions: the Instituto de Salud Carlos III (AC16/0014, PI18/0004, PI20/0320) and the European Union (GENPROVIC project from ERA-CVD framework). The Hospital Universitario Puerta de Hierro and the Hospital Universitario Virgen de la Arrixaca are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart). All authors have reported that they have no relationships relevant to the contents of this paper to disclose., (Copyright © 2021 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

Published
2021
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50. A rare HCN4 variant with combined sinus bradycardia, left atrial dilatation, and hypertrabeculation/left ventricular noncompaction phenotype.

Author

Alonso-Fernández-Gatta M, Gallego-Delgado M, Caballero R, Villacorta E, Díaz-Peláez E, García-BerrocaL B, Crespo-García T, Plata-Izquierdo B, Marcos-Vadillo E, García-Cuenllas L, Barreiro-Pérez M, Isidoro-García M, Tamargo-Menéndez J, Delpón E, and Sánchez PL

Subjects
Animals, Bradycardia diagnosis, Bradycardia genetics, CHO Cells, Cricetinae, Cricetulus, Dilatation, Humans, Muscle Proteins genetics, Phenotype, Potassium Channels genetics, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels genetics, Sick Sinus Syndrome diagnosis, Sick Sinus Syndrome genetics
Abstract

Introduction and Objectives: HCN4 variants have been reported to cause combined sick sinus syndrome (SSS) and left ventricular noncompaction (LVNC) cardiomyopathy. This relationship has been proven in few cases and no previous patients have associated left atrial dilatation (LAD). Our objective was to study a familial disorder characterized by SSS, LAD, and hypertrabeculation/LVNC and to identify the underlying genetic and electrophysiological characteristics., Methods: A family with SSS and LVNC underwent a clinical, genetic, and electrophysiological assessment. They were studied via electrocardiography, Holter recording, echocardiography, and exercise stress tests; cardiac magnetic resonance imaging was additionally performed in affected individuals. Genetic testing was undertaken with targeted next-generation sequencing, as well as a functional study of the candidate variant in Chinese hamster ovary cells., Results: Twelve members of the family had sinus bradycardia, associated with complete criteria of LVNC in 4 members and hypertrabeculation in 6 others, as well as LAD in 9 members. A HCN4 c.1123C>T;(p.R375C) variant was present in heterozygosis in all affected patients and absent in unaffected individuals. Electrophysiological analyses showed that the amplitude and densities of the HCN4 currents (I HCN4 ) generated by mutant p.R375C HCN4 channels were significantly lower than those generated by wild-type channels., Conclusions: The combined phenotype of SSS, LAD, and LVNC is associated with the heritable HCN4 c.1123C>T;(p.R375C) variant. HCN4 variants should be included in the genetic diagnosis of LVNC cardiomyopathy and of patients with familial forms of SSS, as well as of individuals with sinus bradycardia and LAD., (Copyright © 2020 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2021
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