Search

Your search keyword '"Monserrat, L"' showing total 344 results
Start Over Author "Monserrat, L"
344 results on '"Monserrat, L"'

2. Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa registry) in Spain: Objectives, methods, and preliminary results

Author

Alonso Cotoner, C., Beneyto Florido, M., Fernández, A., Gil Sánchez, R., García Morillo, J.S., Gómez Cerezo, J.F., Gómez del Olmo, V., Iglesias, P., Juyol Rodrigo, M.C., Lopez Osle, N., López Rodríguez, M., López Wolf, D., Moreno de la Santa García, M.C., Ojeda Sosa, A., Patier de la Peña, J.L., Perez Garcia, M.L., Riera-Mestre, A., Sánchez Martínez, R., Torralba Cabeza, M.A., Zarrabeitia Puente, R., Mora Luján, J.M., Sanchez Martínez, R., Lopez Wolf, D., and Monserrat, L.

Published
2018
Full Text
View/download PDF

3. Registro informatizado de la telangiectasia hemorrágica hereditaria (Registro RiHHTa) en España: objetivos, métodos y resultados preliminares

Author

Alonso Cotoner, C., Beneyto Florido, M., Fernández, A., Gil Sánchez, R., García Morillo, J.S., Gómez Cerezo, J.F., Gómez del Olmo, V., Iglesias, P., Juyol Rodrigo, M.C., Lopez Osle, N., López Rodríguez, M., López Wolf, D., Moreno de la Santa García, M.C., Ojeda Sosa, A., Patier de la Peña, J.L., Perez Garcia, M.L., Riera-Mestre, A., Sánchez Martínez, R., Torralba Cabeza, M.A., Zarrabeitia Puente, R., Mora Luján, J.M., Sanchez Martínez, R., Lopez Wolf, D., and Monserrat, L.

Published
2018
Full Text
View/download PDF

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
Full Text
View/download PDF

7. 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

9. M��sica para la difusi��n de las lenguas ind��genas

Author

Aranda, Ver��nica Monserrat L��pez

Subjects
M��sica, Salvaguardar, Lenguas ind��genas, Difusi��n
Abstract

En M��xico existen actualmente 68 lenguas ind��genas, pero algunas est��n en peligro de extinci��n debido a diferentes razones o factores. Este problema empieza por la discriminaci��n de estas lenguas y sus hablantes. En este art��culo se mostrar�� un poco la riqueza ling����stica ind��gena, los factores de estas problem��ticas, la importancia de estos pueblos y sus lenguas, y finalmente se hablar�� sobre c��mo la m��sica puede ayudar a difundir y transmitir estas lenguas y as�� poder despertar inter��s en la sociedad ind��gena y no ind��gena para poder revitalizarlas. En este ��ltimo apartado se realizar�� una demostraci��n de los resultados de unas encuestas que se les aplicaron a personas de la ciudad de Le��n Gto; en la cual se recab�� informaci��n sobre el conocimiento que ten��an estos sujetos acerca de la situaci��n de las lenguas ind��genas y sus pueblos, y sobre el impacto de la m��sica ind��genas en ellos, realizando una interpretaci��n de estos resultados.

Published
2022
Full Text
View/download PDF

11. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

Author

Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Kukavica, D, Chargeishvili, T, Olivetti, N, Biernacka, E, Sacilotto, L, Sarquella-Brugada, G, Campuzano, O, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Sanchez-Quinones, J, Hernandez-Afonso, J, Fuentes, M, Sredniawa, B, Garoufi, A, Andrsova, I, Izquierdo, M, Marinov, R, Danon, A, Exposito-Garcia, V, Garcia-Fernandez, A, Munoz-Esparza, C, Ortiz, M, Zienciuk-Krajka, A, Tavazzani, E, Monteforte, N, Bloise, R, Marino, M, Memmi, M, Napolitano, C, Zorio, E, Monserrat, L, Bagnardi, V, Priori, S, Mazzanti A., Guz D., Trancuccio A., Pagan E., Kukavica D., Chargeishvili T., Olivetti N., Biernacka E. K., Sacilotto L., Sarquella-Brugada G., Campuzano O., Nof E., Anastasakis A., Sansone V. A., Jimenez-Jaimez J., Cruz F., Sanchez-Quinones J., Hernandez-Afonso J., Fuentes M. E., Sredniawa B., Garoufi A., Andrsova I., Izquierdo M., Marinov R., Danon A., Exposito-Garcia V., Garcia-Fernandez A., Munoz-Esparza C., Ortiz M., Zienciuk-Krajka A., Tavazzani E., Monteforte N., Bloise R., Marino M., Memmi M., Napolitano C., Zorio E., Monserrat L., Bagnardi V., Priori S. G., Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Kukavica, D, Chargeishvili, T, Olivetti, N, Biernacka, E, Sacilotto, L, Sarquella-Brugada, G, Campuzano, O, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Sanchez-Quinones, J, Hernandez-Afonso, J, Fuentes, M, Sredniawa, B, Garoufi, A, Andrsova, I, Izquierdo, M, Marinov, R, Danon, A, Exposito-Garcia, V, Garcia-Fernandez, A, Munoz-Esparza, C, Ortiz, M, Zienciuk-Krajka, A, Tavazzani, E, Monteforte, N, Bloise, R, Marino, M, Memmi, M, Napolitano, C, Zorio, E, Monserrat, L, Bagnardi, V, Priori, S, Mazzanti A., Guz D., Trancuccio A., Pagan E., Kukavica D., Chargeishvili T., Olivetti N., Biernacka E. K., Sacilotto L., Sarquella-Brugada G., Campuzano O., Nof E., Anastasakis A., Sansone V. A., Jimenez-Jaimez J., Cruz F., Sanchez-Quinones J., Hernandez-Afonso J., Fuentes M. E., Sredniawa B., Garoufi A., Andrsova I., Izquierdo M., Marinov R., Danon A., Exposito-Garcia V., Garcia-Fernandez A., Munoz-Esparza C., Ortiz M., Zienciuk-Krajka A., Tavazzani E., Monteforte N., Bloise R., Marino M., Memmi M., Napolitano C., Zorio E., Monserrat L., Bagnardi V., and Priori S. G.

Abstract

Background: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. Objectives: This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. Methods: Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. Results: We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). Conclusions: Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1.

Published
2020

15. Marfan syndrome: genetic variant determinants of cardiovascular outcomes

Author

Brogger, M N, primary, Fernandez Ferro, G, additional, Cardenas Reyes, I, additional, Ochoa, J P, additional, Garcia Hernandez, S, additional, Fernandez, X, additional, Garcia Giustiniani, D, additional, Lamounier, A, additional, Valverde, M, additional, De La Higuera Romero, L, additional, Ortiz Genga, M, additional, Monserrat, L, additional, and McKenna, W J, additional

Published
2021
Full Text
View/download PDF

19. Narrowing of the neonatal region in the FBN1 gene

Author

Brogger, M N, primary, Fernandez Ferro, G, additional, Cardenas Reyes, I, additional, Ochoa, J P, additional, Garcia Hernandez, S, additional, Valverde, M, additional, Fernandez, X, additional, Garcia Giustiniani, D, additional, Lamounier, A, additional, De La Higuera Romero, L, additional, Ortiz Genga, M, additional, Monserrat, L, additional, and McKenna, W J, additional

Published
2021
Full Text
View/download PDF

20. Genetic Mosaicism in Calmodulinopathy

Author

Wren, L, Jiménez-Jáimez, J, Al-Ghamdi, S, Al-Aama, J, Bdeir, A, Al-Hassnan, Z, Kuan, J, Foo, R, Potet, F, Johnson, C, Aziz, M, Carvill, G, Kaski, J, Crotti, L, Perin, F, Monserrat, L, Burridge, P, Schwartz, P, Chazin, W, Bhuiyan, Z, George AL, J, Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr., Wren, L, Jiménez-Jáimez, J, Al-Ghamdi, S, Al-Aama, J, Bdeir, A, Al-Hassnan, Z, Kuan, J, Foo, R, Potet, F, Johnson, C, Aziz, M, Carvill, G, Kaski, J, Crotti, L, Perin, F, Monserrat, L, Burridge, P, Schwartz, P, Chazin, W, Bhuiyan, Z, George AL, J, Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, and George AL Jr.

Abstract

Background: CaM (calmodulin) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy) and are most often de novo. In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin mutations and to investigate mosaicism in 2 affected families. Methods: CaM mutations were identified in 4 independent cases by DNA sequencing. Biochemical and electrophysiological studies were performed to determine functional consequences of each mutation. Results: Genetic studies identified 2 novel CaM variants (CALM3-E141K in 2 cases; CALM1-E141V) and one previously reported CaM pathogenic variant (CALM3-D130G) among 4 probands with shared clinical features of prolonged QTc interval (range 505-725 ms) and documented ventricular arrhythmia. A fatal outcome occurred for 2 of the cases. The parents of all probands were asymptomatic with normal QTc duration. However, 2 of the families had multiple affected offspring or multiple occurrences of intrauterine fetal demise. The mother from the family with recurrent intrauterine fetal demise exhibited the CALM3-E141K mutant allele in 25% of next-generation sequencing reads indicating somatic mosaicism, whereas CALM3-D130G was present in 6% of captured molecules of the paternal DNA sample, also indicating mosaicism. Two novel mutations (E141K and E141V) impaired Ca2+ binding affinity to the C-domain of CaM. Human-induced pluripotent stem cell-derived cardiomyocytes overexpressing mutant or wild-type CaM showed that both mutants impaired Ca2+-dependent inactivation of L-type Ca2+ channels and prolonged action potential duration. Conclusions: We report 2 families with somatic mosaicism associated with arrhythmogenic calmodulinopathy, and demonstrate dysregulation of L-type Ca2+ channels by 2 novel CaM mutations affecting the same residue. Parental mosaicism should be suspected in families with unexplained fetal arrhythmia or fetal demise combined with a documented CaM mut

Published
2019

21. 16P Understanding the biologic determinants of ribociclib efficacy in breast cancer

Author

Brasó-Maristany, F., primary, Palafox, M., additional, Monserrat, L., additional, Bellet, M., additional, Oliveira, M., additional, Capelán, M., additional, Galván, P., additional, Martínez, D., additional, Chic, N., additional, Viaplana, C., additional, Dienstmann, R., additional, Nuciforo, P., additional, Saura Manich, C., additional, Prat, A., additional, and Serra, V., additional

Published
2021
Full Text
View/download PDF

22. 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

26. Survival analysis in arrhythmogenic/dilated cardiomyopathy caused by pathogenic DSP truncating variants

Author

Lamounier Junior, A, primary, Alonso Garcia, D, additional, Fernandez Ferro, G, additional, Cardenas Reyes, I.J, additional, Salazar-Mendiguchia Y Garcia, J, additional, Ochoa, J.P, additional, Nicolas Cicerchia, M, additional, Pena-Pena, M.L, additional, Noel Brogger, M, additional, Garcia Hernandez, S, additional, Fernandez, X, additional, Ortiz, M, additional, Barriales-Villa, R, additional, and Iglesias Monserrat, L, additional

Published
2020
Full Text
View/download PDF

29. Prognostic value of reduced heart rate reserve during exercise stress-echocardiography in hypertrophic cardiomyopathy

Author

Ciampi, Q, primary, Olivotto, I, additional, D'Alfonso, M.A, additional, Tassetti, L, additional, Milazzo, A, additional, Peteiro, J, additional, Monserrat, L, additional, Palinkas, A, additional, Palinkas, E, additional, Tesic, M, additional, Djordjevic-Dikic, A, additional, Losi, M.A, additional, Canciello, G, additional, Re, F, additional, and Picano, E, additional

Published
2020
Full Text
View/download PDF

30. 1933MO TransFAL: Establishment of clinical trial-matched luminal breast cancer patient-derived xenografts (PDX) for translational studies

Author

Palafox, M., primary, Mina, L., additional, Malfettone, A., additional, Monserrat, L., additional, Rodriguez, M.J., additional, Rodríguez, O., additional, Guzmán, M., additional, Grueso, J., additional, Scaltriti, M., additional, Miquel, T., additional, Saura, C., additional, Capelán, M., additional, Gil-Gil, M., additional, Llombart Cussac, A., additional, Cortés, J., additional, Perez Garcia, J.M., additional, Del Campo, M., additional, Bellet Ezquerra, M., additional, and Serra, V., additional

Published
2020
Full Text
View/download PDF

35. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

Author

Mazzanti, A. Guz, D. Trancuccio, A. Pagan, E. Kukavica, D. Chargeishvili, T. Olivetti, N. Biernacka, E.K. Sacilotto, L. Sarquella-Brugada, G. Campuzano, O. Nof, E. Anastasakis, A. Sansone, V.A. Jimenez-Jaimez, J. Cruz, F. Sánchez-Quiñones, J. Hernandez-Afonso, J. Fuentes, M.E. Średniawa, B. Garoufi, A. Andršová, I. Izquierdo, M. Marinov, R. Danon, A. Expósito-García, V. Garcia-Fernandez, A. Muñoz-Esparza, C. Ortíz, M. Zienciuk-Krajka, A. Tavazzani, E. Monteforte, N. Bloise, R. Marino, M. Memmi, M. Napolitano, C. Zorio, E. Monserrat, L. Bagnardi, V. Priori, S.G.

Abstract

Background: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. Objectives: This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. Methods: Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. Results: We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). Conclusions: Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1. © 2020

Published
2020

36. Mortality among Referral Patients with Hypertrophic Cardiomyopathy vs the General European Population

Author

Lorenzini, M. Anastasiou, Z. O'Mahony, C. Guttman, O.P. Gimeno, J.R. Monserrat, L. Anastasakis, A. Rapezzi, C. Biagini, E. Garcia-Pavia, P. Limongelli, G. Pavlou, M. Elliott, P.M.

Abstract

Importance: It is unclear whether hypertrophic cardiomyopathy (HCM) conveys excess mortality when compared with the general population. Objective: To compare the survival of patients with HCM with that of the general European population. Design, Setting, and Participants: Retrospective cohort study of 4893 consecutive adult patients with HCM presenting at 7 European referral centers between 1980 and 2013. The data were analyzed between April 2018 and August 2019. Main Outcomes and Measures: Survival was compared using standardized mortality ratios (SMRs) calculated with data from Eurostat, stratified by study period, country, sex, and age, and using a composite end point in the HCM cohort of all-cause mortality, aborted sudden cardiac death, and heart transplant. Results: Of 4893 patients with HCM, 3126 (63.9%) were male, and the mean (SD) age at presentation was 49.2 (16.4) years. During a median follow-up of 6.2 years (interquartile range, 3.1-9.8 years), 721 patients (14.7%) reached the composite end point. Compared with the general population, patients with HCM had excess mortality throughout the age spectrum (SMR, 2.0, 95% CI, 1.48-2.63). Excess mortality was highest among patients presenting prior to the year 2000 but persisted in the cohort presenting between 2006 and 2013 (SMR, 1.84; 95% CI, 1.55-2.18). Women had higher excess mortality than men (SMR, 2.66; 95% CI, 2.38-2.97; vs SMR, 1.68; 95% CI, 1.52-1.85; P

Published
2020

38. Effectiveness of the 2014 european society of cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: A systematic review and meta-analysis

Author

O'Mahony, C. Akhtar, M.M. Anastasiou, Z. Guttmann, O.P. Vriesendorp, P.A. Michels, M. Magrì, D. Autore, C. Fernández, A. Ochoa, J.P. Leong, K.M.W. Varnava, A.M. Monserrat, L. Anastasakis, A. Garcia-Pavia, P. Rapezzi, C. Biagini, E. Gimeno, J.R. Limongelli, G. Omar, R.Z. Elliott, P.M.

Subjects
cardiovascular diseases
Abstract

Objective In 2014, the European Society of Cardiology (ESC) recommended the use of a novel risk prediction model (HCM Risk-SCD) to guide use of implantable cardioverter defibrillators (ICD) for the primary prevention of sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). We sought to determine the performance of HCM Risk-SCD by conducting a systematic review and meta-analysis of articles reporting on the prevalence of SCD within 5 years of evaluation in low, intermediate and high-risk patients as defined by the 2014 guidelines (predicted risk

Published
2019

39. Isogenic pairs of hiPSC-CMs with hypertrophic cardiomyopathy/LVNC-associated ACTC1 E99K mutation unveil differential functional deficits

Author

Smith, JGW, Owen, T, Bhagwan, JR, Mosqueira, D, Scott, E, Mannhardt, I, Patel, A, Barriales-Villa, R, Monserrat, L, Hansen, A, Eschenhagen, T, Harding, SE, Marston, S, Denning, C, and British Heart Foundation

Subjects
MECHANISM, Heart Defects, Congenital, Induced Pluripotent Stem Cells, CHILDREN, MOUSE, arrhythmia, CARDIOMYOCYTES, Article, Cell & Tissue Engineering, contractile function, Humans, Myocytes, Cardiac, ABERRANT CA2+ RELEASE, Calcium Signaling, lcsh:QH301-705.5, health care economics and organizations, ENGINEERED HEART-TISSUE, GENE-EXPRESSION, Gene Editing, lcsh:R5-920, Science & Technology, Tissue Engineering, Arrhythmias, Cardiac, Cell Biology, Cardiomyopathy, Hypertrophic, DILATED CARDIOMYOPATHY, Myocardial Contraction, Actins, ALPHA-CARDIAC ACTIN, lcsh:Biology (General), Mutation, Calcium, CRISPR-Cas Systems, lcsh:Medicine (General), hypertrophy, Life Sciences & Biomedicine, PLURIPOTENT STEM-CELLS, cardiomyopathy
Abstract

Summary Hypertrophic cardiomyopathy (HCM) is a primary disorder of contractility in heart muscle. To gain mechanistic insight and guide pharmacological rescue, this study models HCM using isogenic pairs of human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) carrying the E99K-ACTC1 cardiac actin mutation. In both 3D engineered heart tissues and 2D monolayers, arrhythmogenesis was evident in all E99K-ACTC1 hiPSC-CMs. Aberrant phenotypes were most common in hiPSC-CMs produced from the heterozygote father. Unexpectedly, pathological phenotypes were less evident in E99K-expressing hiPSC-CMs from the two sons. Mechanistic insight from Ca2+ handling expression studies prompted pharmacological rescue experiments, wherein dual dantroline/ranolazine treatment was most effective. Our data are consistent with E99K mutant protein being a central cause of HCM but the three-way interaction between the primary genetic lesion, background (epi)genetics, and donor patient age may influence the pathogenic phenotype. This illustrates the value of isogenic hiPSC-CMs in genotype-phenotype correlations., Highlights • Arrhythmia was a hallmark phenotype in E99K hiPSC-CMs, provoked by altered [Ca2+] • Monoallelic expression of E99K cardiac actin affects only half the cell population • Severe phenotypes in father's E99K hiPSC-CMs suggest influence of age & epigenetics • Mechanistic insight facilitated drug rescue with combined dantroline/ranolazine, In this article Smith, Denning and colleagues show that the E99K-ACTC1 cardiac actin mutation is a central cause of HCM, but the three-way interaction between the primary genetic lesion, background genetics, and donor patient age may influence the pathogenic phenotype. Pharmacological rescue experiments demonstrated dual dantroline/ranolazine to be an effective treatment.

Published
2018

41. 3151The prognostic meaning of a reduced reserve of left ventricular force during exercise in hypertrophic cardiomyopathy

Author

D'Alfonso, M G, primary, Peteiro, J, additional, De Azevedo Bellagamba, C C, additional, Torres, M A R, additional, Re, F, additional, Tesic, M, additional, Monserrat, L, additional, Djordjevic-Dikic, A, additional, Beleslin, B, additional, Fernandez, X, additional, Cotrim, C, additional, Olivotto, J, additional, Ciampi, Q, additional, Mori, F, additional, and Picano, E, additional

Published
2019
Full Text
View/download PDF

43. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey

Author

Elliott P, Baker R, Quarta G, Ebrahim H, Mehta AB, Hughes DA, ACES study group, Anastasakis A, Autore C, Musumeci MB, Frenneaux M, Gimeno J, Tiina H, Kuusisto J, Aalto Setäla K, McKeown P, Monserrat L, Fernandez X, Pacileo G, Limongelli G, Cate FJ, Wilde AA, Pinto YM, Christiaans I, Zachara E., PASQUALE, FERDINANDO, RAPEZZI, CLAUDIO, BIAGINI, ELENA, Elliott P, Baker R, Pasquale F, Quarta G, Ebrahim H, Mehta AB, Hughes DA, ACES study group, Anastasakis A, Autore C, Musumeci MB, Frenneaux M, Gimeno J, Tiina H, Kuusisto J, Aalto-Setäla K, McKeown P, Monserrat L, Fernandez X, Pacileo G, Limongelli G, Rapezzi C, Biagini E, Cate FJ, Wilde AA, Pinto YM, Christiaans I, Zachara E., ACS - Amsterdam Cardiovascular Sciences, Cardiology, and Human Genetics

Subjects
Male, Pathology, medicine.medical_specialty, Cross-sectional study, Gene mutation, Left ventricular hypertrophy, NO, Internal medicine, Epidemiology, Prevalence, medicine, Humans, Genetic Testing, cardiovascular diseases, Aged, Fabry disease, HYPERTROPHIC CARDIOMYOPATHY, business.industry, Hypertrophic cardiomyopathy, SURVEY, Enzyme replacement therapy, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Europe, Cross-Sectional Studies, alpha-Galactosidase, Mutation, Cohort, Female, Cardiology and Cardiovascular Medicine, business
Abstract

Objectives The prevalence of Anderson–Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening. Design, Setting and Patients A European multicentre cross-sectional study involving 13 referral centres. Inclusion criteria for the study were: men aged at least 35 years and women aged at least 40 years with unexplained LVH (maximum left ventricular wall thickness ≥1.5 cm). All patients were screened using a denaturing high-performance liquid chromatography protocol for rapid mutation screening of the α-galactosidase A (α-Gal A) gene and, if a sequence variant was found, direct sequencing was performed. 1386 patients (63.9% men, mean age 57.9±12.0 years) were enrolled in the study. Results Seven (0.5%) patients (age 57.4±9.0 years (45–72); three (43%) men) had pathogenic α-galactosidase A mutations. Polymorphisms were identified in 283 patients (20.4%). Maximal left ventricular wall thickness in patients carrying a disease-causing mutation was 18±2 mm (range 15–22); four patients had concentric LVH and the remainder had asymmetric septal hypertrophy. Conclusions The prevalence of AFD gene mutations in a large, consecutive cohort of European patients with unexplained LVH is 0.5%.

Published
2011
Full Text
View/download PDF

44. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

Author

Cuenca S., Barriales-Villa R., Franaszczyk M., Coronado-Albi M.J., Rangel-Sousa D., Jiménez-Jáimez J., Ripoll-Vera T., Mogollón-Jiménez M.V., Fontalba-Romero A., Palomino-Doza J., Salas C., Hey T.M., Elliott P., Eiskjær H., Barriales R., Fernández Fernández X., Cicerchia M., Monserrat L., Ochoa J.P., Salazar-Mendiguchia J., Mogollón M.V., Ripoll T., Charron P., Richard P., Villard E., Palomino Doza J., Fontalba A., Alonso-Pulpón L., Cobo-Marcos M., Domínguez F., Garcia-Pavia P., Gómez-Bueno M., González-López E., Hernández-Hernández A., Hernández-Pérez F.J., López-Sainz Á., Restrepo-Córdoba A., Segovia-Cubero J., Toro R., de Gonzalo-Calvo D., Rosa Longobardo F., Limeres J., Rodriguez-Palomares J.F., Garcia-Pinilla J.M., López-Garrido M.A., Jiménez-Jaimez J., Garcia-Medina D., Rangel Sousa D., Peña M.L., Mogensen J., Morris-Hey T., Barton P.J., Cook S.A., Midwinter W., Roberts A.M., Ware J.S., Walsh R., Akhtar M., Elliott P.M., Rocha-Lopes L., Savvatis K., Syrris P., Michalak E., Ploski R., Sobieszczanska-Malek M., Bilinska Z., Pankuweit S., Asselbergs F., Baas A., Dooijes D., and Sammani A.

Subjects
Cardiomyopathy, Dilated, BAG3 protein, human, Adolescent, sex difference, electrocardiography, retrospective study, nonsense mutation, heart failure, signal transducing adaptor protein, protein localization, heart transplantation, Article, sudden cardiac death, BLC2 associated athanogene 3 gene, Cohort Studies, male, cardiovascular mortality, congestive cardiomyopathy, middle aged, follow up, chaperone, cardiovascular parameters, controlled study, genetics, human, gene mutation, penetrance, BAG3 protein, pathophysiology, Adaptor Proteins, Signal Transducing, Electroca, adult, apoptosis regulatory protein, clinical trial, cohort analysis, major clinical study, human tissue, unclassified drug, left ventricular enddiastolic diameter, multicenter study, female, priority journal, immunohistochemistry, young adult, prognosis, mutation, Apoptosis Regulatory Proteins, heart ventricle arrhythmia, heart left ventricle ejection fraction
Abstract

Background: The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. Objectives: This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort. Methods: The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry. Results: At first evaluation, 57.4% of patients had DCM. After a median follow-up of 38 months (interquartile range: 7 to 95 months), 68.4% of patients had DCM and 26.1% who were initially phenotype-negative developed DCM. Disease penetrance in individuals >40 years of age was 80% at last evaluation, and there was a trend towards an earlier onset of DCM in men (age 34.6 ± 13.2 years vs. 40.7 ± 12.2 years; p = 0.053). The incidence of adverse cardiac events (death, left ventricular assist device, heart transplantation, and sustained ventricular arrhythmia) was 5.1% per year among individuals with DCM. Male sex, decreased left ventricular ejection fraction. and increased left ventricular end-diastolic diameter were associated with adverse cardiac events. Myocardial tissue from patients with a BAG3 mutation showed myofibril disarray and a relocation of BAG3 protein in the sarcomeric Z-disc. Conclusions: DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure. Male sex, decreased left ventricular ejection fraction, and enlarged left ventricular end-diastolic diameter are associated with adverse outcomes in patients with BAG3 mutations. © 2018 American College of Cardiology Foundation

Published
2018

45. Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results

Author

Riera-Mestre A, Mora Luján JM, Sanchez Martínez R, Torralba Cabeza MA, Patier de la Peña JL, Juyol Rodrigo MC, Lopez Wolf D, Ojeda Sosa A, Monserrat L, López Rodríguez M, en representación de los Investigadores del Registro RiHHTa, and Miembros del Registro RiHHTa del Grupo de Trabajo en Enfermedades Minoritarias d

Subjects
RiHHTa Registry, Hemorrhagic hereditary telangiectasia, Rare diseases
Abstract

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare disease with autosomal dominant inheritance that causes systemic vascular affectation. Material and method: After development a multicentric Spanish national registry, called RiHHTa, main clinical manifestations and diagnostic procedures of the first patients introduced are described. Results: 141 patients were included, of which 91 (64.5%) were women. The mean age at diagnosis was 42 years. Mutations in the ACVRL1 gene predominated over the ENG gene. The initial symptom was recurrent epistaxis in 130 (92.2%) patients and in three (2.1%), brain abscess. Pulmonary arteriovenous (AV) fistula were detected in 36 (45%) of the 79 patients who underwent thoracic CT angiography. The contrast echocardiography detected very few bubbles (grade I) or none, in 36 (45%) of these 79 affected patients. In 43 (67.2%) of the 64 patients with an abdominal CT angiography, hepatic vascular malformations were detected, mostly telangiectasias, AV and arterio-portal fistula, and extrahepatic in 14 (10%) subjects. More than half of the patients were screened for the presence of brain arteriovenous malformations which was found in 3.9% of them. The upper part of the intestinal tube was the most (95%) affected region. Conclusion: The RiHHTa Registry allows improving the management of patients with HHT. An inadequate use of thoracic CT angiography and the usefulness of abdominal CT angiography has been detected in order to define subtypes of hepatic vascular involvement and detect extrahepatic vascular involvement. (C) 2018 Elsevier Espana, S.L.U. and Sociedad Espanola de Medicina Interna (SEMI). All rights reserved.

Published
2018

46. European Cardiomyopathy Pilot Registry : EURObservational Research Programme of the European Society of Cardiology

Author

Elliott P., Charron P., Blanes J. R. G., Tavazzi L., Tendera M., Konte M., Laroche C., Maggioni A. P., Anastasakis A., Arbustini E., Asselbergs F. W., Axelsson A., Brito D., Caforio A. L. P., Carr-White G., Czekaj A., Damy T., Devoto E., Favalli V., Findlay I., Garcia-Pavia P., Hagege A., Helio T., Iliceto S., Isnard R., Jansweijer J. A., Limongelli G., Linhart A., Cuenca D. L., Mansencal N., McKeown P., Mogensen J., Mohiddin S. A., Monserrat L., Olivotto I., Rapezzi C., Rigopoulos A. G., Rosmini S., Pfeiffer B., Wicks E., Podzimkova J., Kuchynka P., Palecek T., Bundgaard H., Thune J. J., Kumme A., Due Vestergaard L., Hey T., Ollila L., Kaartinen M., Dubourg O., Arslan M., Siam Tsieu M., Guellich A., Tissot C. -M., Guendouz S., Thevenin S., Cheikh Khelifa R., Gandjbakhch E., Komajda M., Neugebauer A., Steriotis A., Ritsatos K., Vlagkouli V., Biagini E., Gentile N., Longhi S., Arretini A., Fornaro A., Cecchi F., Spirito P., Formisano F., Masarone D., Valente F., Pacileo G., Schiavo A., Testolina M., Serio A., Grasso M., Wilde A., Pinto Y., Klopping C., Van Der Heijden J. F., De Jonge N., Sikora-Puz A., Wybraniec M., Francisco A. R., Madeira H., Ortiz-Genga M., Barriales-Villa R., Fernandez X., Lopez-Cuenca D., Gomez-Milanes I., Lopez-Ayala J. M., Guzzo-Merello G., Gallego-Delgado M., Muir A., McOsker J., Jardine T., Iqbal H., Sekhri N., Rajani R., Bueser T., Watkinson O., Cardiology, ACS - Amsterdam Cardiovascular Sciences, ACS - Heart failure & arrhythmias, Perry Elliott, Philippe Charron, Juan Ramon Gimeno Blane, Luigi Tavazzi, Michal Tendera, Marème Konté, Cécile Laroche, Aldo P. Maggioni, the EORP Cardiomyopathy Registry Pilot Investigators: [Aris Anastasaki, Eloisa Arbustini, Folkert W. Asselberg, Anna Axelsson, Dulce Brito, Alida L.P. Caforio, Gerald Carr-White, Agata Czekaj, Thibaud Damy, Emmanuela Devoto, Valentina Favalli, Iain Findlay, Pablo Garcia-Pavia, Albert Hagège, Tiina Heliö, Sabino Iliceto, Richard Isnard, Joeri A. Jansweijer, Giuseppe Limongelli, Ales Linhart, David López Cuenca, Nicolas Mansencal, Pascal McKeown, Jens Mogensen, Saidi A. Mohiddin, Lorenzo Monserrat, Iacopo Olivotto, Claudio Rapezzi, A.G. Rigopoulo, Stefania Rosmini, Barbara Pfeiffer, Eleanor Wicks], Elliott, P., Charron, P., Blanes, J. R. G., Tavazzi, L., Tendera, M., Konte, M., Laroche, C., Maggioni, A. P., Anastasakis, A., Arbustini, E., Asselbergs, F. W., Axelsson, A., Brito, D., Caforio, A. L. P., Carr-White, G., Czekaj, A., Damy, T., Devoto, E., Favalli, V., Findlay, I., Garcia-Pavia, P., Hagege, A., Helio, T., Iliceto, S., Isnard, R., Jansweijer, J. A., Limongelli, G., Linhart, A., Cuenca, D. L., Mansencal, N., Mckeown, P., Mogensen, J., Mohiddin, S. A., Monserrat, L., Olivotto, I., Rapezzi, C., Rigopoulos, A. G., Rosmini, S., Pfeiffer, B., Wicks, E., Podzimkova, J., Kuchynka, P., Palecek, T., Bundgaard, H., Thune, J. J., Kumme, A., Due Vestergaard, L., Hey, T., Ollila, L., Kaartinen, M., Dubourg, O., Arslan, M., Siam Tsieu, M., Guellich, A., Tissot, C. -M., Guendouz, S., Thevenin, S., Cheikh Khelifa, R., Gandjbakhch, E., Komajda, M., Neugebauer, A., Steriotis, A., Ritsatos, K., Vlagkouli, V., Biagini, E., Gentile, N., Longhi, S., Arretini, A., Fornaro, A., Cecchi, F., Spirito, P., Formisano, F., Masarone, D., Valente, F., Pacileo, G., Schiavo, A., Testolina, M., Serio, A., Grasso, M., Wilde, A., Pinto, Y., Klopping, C., Van Der Heijden, J. F., De Jonge, N., Sikora-Puz, A., Wybraniec, M., Francisco, A. R., Madeira, H., Ortiz-Genga, M., Barriales-Villa, R., Fernandez, X., Lopez-Cuenca, D., Gomez-Milanes, I., Lopez-Ayala, J. M., Guzzo-Merello, G., Gallego-Delgado, M., Muir, A., Mcosker, J., Jardine, T., Iqbal, H., Sekhri, N., Rajani, R., Bueser, T., and Watkinson, O.

Subjects
Registrie, Male, Pacemaker, Artificial, Cardiomyopathy, Pilot Projects, 030204 cardiovascular system & hematology, Defibrillator, 0302 clinical medicine, Interquartile range, Residence Characteristics, Dilated, Medicine, 030212 general & internal medicine, Registries, Age of Onset, Non-U.S. Gov't, Research Support, Non-U.S. Gov't, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Middle Aged, Arrhythmogenic right ventricular dysplasia, Europe, Multicenter Study, cardiovascular system, Cardiology, Arrhythmogenic right ventricular, Female, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Human, Adult, medicine.medical_specialty, Registry, Cardiotonic Agents, Restrictive, Observational Study, Research Support, Right ventricular cardiomyopathy, NO, 03 medical and health sciences, Age Distribution, Internal medicine, Journal Article, Humans, Cardiotonic Agent, Pilot Project, cardiovascular diseases, Sex Distribution, Cardiomyopathie, business.industry, Restrictive cardiomyopathy, Hypertrophic, medicine.disease, Death, Sudden, Cardiac, Residence Characteristic, Heart failure, business, Defibrillators
Abstract

AIMS: Cardiomyopathies are a heterogeneous group of disorders associated with premature death due to ventricular arrhythmia or heart failure. The purpose of this study was to examine the characteristics of patients enrolled in the pilot phase of the EURObservational Research Programme (EORP) cardiomyopathy registry. METHODS AND RESULTS: Between 1 December 2012 and 30 November 2013, four cardiomyopathy phenotypes were studied: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). Twenty-seven centres in 12 countries participated; 1115 patients were enrolled. The commonest cardiomyopathy was HCM (n = 681), followed by DCM (n = 346), ARVC (n = 59), and RCM (n = 29); 423 patients (46.4% of those reported) had familial disease; and 56 (5.0%) had rare disease phenocopies. Median age at enrolment and diagnosis was 54 [interquartile range (IQR), 42-64] and 46 years (IQR, 32-58), respectively; fewer patients with ARVC and more with RCM were diagnosed in the upper age quartile (P < 0.0001). There was a male predominance for all cardiomyopathies except RCM (P = 0.0023). Most patients were in New York Heart Association functional class I (n = 813) at enrolment; 139 (12.5%) reported syncope, most frequently in ARVC (P = 0.0009). Five hundred and seven (45.5%) patients underwent cardiac magnetic resonance imaging, 117 (10.6%) endomyocardial biopsy, and 462 (41.4%) genetic testing with a causative mutation reported in 236 individuals (51.1%). 1026 patients (92.0%) were receiving drug therapy; 316 (28.3%) had received an implantable cardioverter defibrillator (highest proportion in ARVC, P < 0.0001). CONCLUSION: This pilot study shows that services for patients with cardiomyopathy are complex, requiring access to a large range of invasive and non-invasive investigations and involvement of multidisciplinary teams. Treatment regimens are equally multifaceted and show that patients are likely to need long-term follow-up in close liaison with expert centres.

Published
2016

47. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD)

Author

O'Mahony C., Jichi F., Pavlou M., Monserrat L., Anastasakis A., Rapezzi C., Biagini E., Gimeno J. R., Limongelli G., McKenna W. J., Omar R. Z., Elliott P. M., Ortiz-Genga M., Fernandez X., Vlagouli V., Stefanadis C., Coccolo F., Sandoval M. J. O., Pacileo G., Masarone D., Pantazis A., Tome-Esteban M., Dickie S., Lambiase P. D., Rahman S., O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM, Hypertrophic Cardiomyopathy Outcomes Investigators, O'Mahony, C., Jichi, F., Pavlou, M., Monserrat, L., Anastasakis, A., Rapezzi, C., Biagini, E., Gimeno, J. R., Limongelli, G., Mckenna, W. J., Omar, R. Z., Elliott, P. M., Ortiz-Genga, M., Fernandez, X., Vlagouli, V., Stefanadis, C., Coccolo, F., Sandoval, M. J. O., Pacileo, G., Masarone, D., Pantazis, A., Tome-Esteban, M., Dickie, S., Lambiase, P. D., and Rahman, S.

Subjects
Adult, Male, medicine.medical_specialty, Prognosi, medicine.medical_treatment, Reproducibility of Result, Left ventricular hypertrophy, Ventricular tachycardia, Risk Assessment, sudden cardiac death, Sudden cardiac death, NO, HYPERTROPHIC CARDIOMYOPATHY, IMPLANTABLE CARDIOVERTER DEFIBRILLATOR, Risk prediction model, Retrospective Studie, Internal medicine, medicine, cardiovascular diseases, Proportional hazards model, business.industry, Hypertrophic cardiomyopathy, Retrospective cohort study, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Implantable cardioverter-defibrillator, Death, Sudden, Cardiac, Sample Size, Cardiology, Proportional Hazards Model, Female, Cardiology and Cardiovascular Medicine, Risk assessment, business, Human
Abstract

Aims: Hypertrophic cardiomyopathy(HCM)is a leading cause of sudden cardiac death (SCD) in young adults. Current risk algorithms provide only a crude estimate of risk and fail to account for the different effect size of individual risk factors. The aim of this study was to develop and validate a new SCD risk prediction model that provides individualized risk estimates. Methods and results: The prognostic model was derived from a retrospective, multi-centre longitudinal cohort study. The model was developed fromthe entire data set using theCox proportional hazards model and internally validated using bootstrapping. The cohort consisted of 3675 consecutive patients from six centres. During a follow-up period of 24 313 patient-years (median 5.7 years), 198 patients (5%) died suddenly or had an appropriate implantable cardioverter defibrillator (ICD) shock. Of eight pre-specified predictors, age, maximal left ventricular wall thickness, left atrial diameter, left ventricular outflow tract gradient, family history of SCD, non-sustained ventricular tachycardia, and unexplained syncope were associated with SCD/appropriate ICD shock at the 15% significance level. These predictors were included in the final model to estimate individual probabilities of SCD at 5 years. The calibration slope was 0.91 (95% CI: 0.74, 1.08), C-index was 0.70 (95% CI: 0.68, 0.72), and D-statistic was 1.07 (95% CI: 0.81, 1.32). For every 16 ICDs implanted in patients with ≥4% 5-year SCD risk, potentially 1 patient will be saved from SCD at 5 years. A second model with the data set split into independent development and validation cohorts had very similar estimates of coefficients and performance when externally validated. Conclusion: This is the first validatedSCDrisk prediction model for patients withHCMand provides accurate individualized estimates for the probability of SCD using readily collected clinical parameters. ©The Author 2013.

Published
2014

48. Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa registry) in Spain: Objectives, methods, and preliminary results

Author

Riera-Mestre, A., primary, Mora Luján, J.M., additional, Sanchez Martínez, R., additional, Torralba Cabeza, M.A., additional, Patier de la Peña, J.L., additional, Juyol Rodrigo, M.C., additional, Lopez Wolf, D., additional, Ojeda Sosa, A., additional, Monserrat, L., additional, López Rodríguez, M., additional, Alonso Cotoner, C., additional, Beneyto Florido, M., additional, Fernández, A., additional, Gil Sánchez, R., additional, García Morillo, J.S., additional, Gómez Cerezo, J.F., additional, Gómez del Olmo, V., additional, Iglesias, P., additional, Lopez Osle, N., additional, López Wolf, D., additional, Moreno de la Santa García, M.C., additional, Perez Garcia, M.L., additional, Riera-Mestre, A., additional, Sánchez Martínez, R., additional, and Zarrabeitia Puente, R., additional

Published
2018
Full Text
View/download PDF

49. Registro informatizado de la telangiectasia hemorrágica hereditaria (Registro RiHHTa) en España: objetivos, métodos y resultados preliminares

Author

Riera-Mestre, A., primary, Mora Luján, J.M., additional, Sanchez Martínez, R., additional, Torralba Cabeza, M.A., additional, Patier de la Peña, J.L., additional, Juyol Rodrigo, M.C., additional, Lopez Wolf, D., additional, Ojeda Sosa, A., additional, Monserrat, L., additional, López Rodríguez, M., additional, Alonso Cotoner, C., additional, Beneyto Florido, M., additional, Fernández, A., additional, Gil Sánchez, R., additional, García Morillo, J.S., additional, Gómez Cerezo, J.F., additional, Gómez del Olmo, V., additional, Iglesias, P., additional, Lopez Osle, N., additional, López Wolf, D., additional, Moreno de la Santa García, M.C., additional, Perez Garcia, M.L., additional, Riera-Mestre, A., additional, Sánchez Martínez, R., additional, and Zarrabeitia Puente, R., additional

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results