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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
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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
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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
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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

8. 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

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
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11. Predictive factors and risk and protection groups for loneliness in older adults: a population-based study

Author

Pedro Montejo Carrasco, David Prada Crespo, Ana Isabel Reinoso García, Monserrat Lozano Ibáñez, Borja Montejo Rubio, and Mercedes Montenegro-Peña

Subjects
Ageing, Depression, Living alone, Loneliness, Mental health, Protective factors, Psychology, BF1-990
Abstract

Abstract Background Loneliness is considered a public health problem, particularly among older adults. Although risk factors for loneliness have been studied extensively, fewer studies have focused on the protected and risk groups that these factors configure. Our objective is to analyze the variables and latent factors that predict loneliness in older adults and that enable risk and protected groups to be configured. Methods We employed an epidemiological, cross-sectional survey that was carried out on a random sample of 2060 people over 65 years extracted from the census. A structured telephone interview was used to assess mental and physical health, habits, quality of life, and loneliness, applying the COOP-Wonca, Goldberg General Health (GHQ-12), and Barber Questionnaires. Results Predictors of loneliness were: mental health, living alone, quality of life, depressive symptoms, low educational level, and some deficiency situations such as having no one to turn to for help. The factors extracted (Factorial Analysis) were: a subjective experience of poor health, objective isolation, and psychological isolation. We established at risk and protected groups (“Decision Tree” procedure), and loneliness was referred to by 73.2% of the people living alone and with poor mental health and quality of life (risk group). By contrast, only 0.8% of people living with others, with good mental health and good quality of life felt loneliness (protected group). Conclusion In a well-developed city, subjective and objective factors are associated with loneliness. These factors, especially those associated with at risk or protected groups, must be considered to develop strategies that address loneliness.

Published
2024
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12. 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

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
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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
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21. 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

22. 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
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24. 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

25. 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

29. 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
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32. 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
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33. 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
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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. Standardization of 3D printing parameters to control the size and shape of pores in Polylactic acid scaffolds

Author

Lucía Pérez‐Sánchez, Misael A. Ortiz de la O, Marco A. Álvarez‐Pérez, Monserrat Llaguno‐Munive, Osmar A. Chanes‐Cuevas, and Janeth Serrano‐Bello

Subjects
3D printing, graded porosity, printing parameters, scaffolding, Materials of engineering and construction. Mechanics of materials, TA401-492, Medical technology, R855-855.5
Abstract

Abstract The challenge of three‐dimensional (3D) printing by polymeric extrusion in tissue bioengineering is to control with precision the microarchitecture and porous interconnectivity of scaffolds, as well as search for models that allow and facilitate the development of personalized constructs that meet optimal characteristics for the regeneration of significant bone defects. In this study, anatomically accurate scaffolds were designed and printed to a critical size defect from a microtomography image of the rat calvaria. Different software is used to design a scaffold with exact anatomy. With Ultimaker Cura software, distinct printing parameters were standardized, permitting the printing of different types of pores and graded porosity scaffolds, with exact adaptation to the bone defect, utilizing a commercial 3D printer with a fused deposition modeling technique and compensating for the limitations of the method. The scaffolds were characterized by evaluating their mechanical properties and surface characteristics (pore size and porosity), employing scanning electron microscopy images, verifying that the size and shape of the pores were controlled, and evaluating cell viability and cell distribution on the 3D printed scaffold. Therefore, this work proves that by standardizing the printing parameters, it was possible to print a unique customized scaffold, controlling the shape and size of pores.

Published
2024
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40. Hepatic injury biomarkers in COVID-19

Author

Diana K. Tapia-Calderón, Ana I. Tornel-Avelar, Francisco A. Félix-Téllez, Lydia A. Mercado-Jáuregui, Liliana E. Ramos-Villalobos, Bladimir Diaz-Villavicencio, Monserrat Lazcano-Becerra, Rodrigo Escobedo-Sánchez, Edgar S. García-Jiménez, and José A. Velarde-Ruiz Velasco

Subjects
Specialties of internal medicine, RC581-951
Abstract

Introduction and Objectives: : C-reactive protein (CRP) and D-dimer have been shown to be predictors of severity in patients with COVID-19. The FIB-4 and APRI scoring systems are tools calculated using routine laboratory parameters that allow non-invasive evaluation of liver fibrosis. Some studies have demonstrated that the parameters comprising these scores predict mortality in COVID-19. The objective of this study was to determine the role of various liver injury biomarkers in stratifying the severity of hospitalized patients with COVID-19. Materials and Patients: Analytical and retrospective study. Patients with COVID-19 were included, while those with liver disease were excluded. A receiver operating characteristic (ROC) analysis with 95% confidence intervals (CI) was performed to determine the predictive performance of FIB-4, APRI, D-dimer, and CRP in terms of the need for invasive mechanical ventilation (IMV) and mortality. Results: A total of 448 hospitalized patients with COVID-19 were included in the study. 68.2% were male, with a mean age of 56.27 ± 14.7 years. 35.1% had systemic arterial hypertension, 29.2% had diabetes mellitus, 6% had cancer, 5% had chronic obstructive pulmonary disease, and 3.3% had chronic kidney disease. 21.4% required nasal cannula support, 29.4% required mask with reservoir, 35.5% required high-flow oxygen therapy, and 13.1% required IMV. 48% had severe disease, and 28.1% died. ROC analysis with 95% CI revealed that the best predictor of the need for IMV was the FIB-4 index, with an AUC of 0.637 (95% CI 0.545 - 0.732, p= 0.003), followed by APRI with an AUC of 0.596 (95% CI 0.504-0.687, p=0.04). The best predictor of mortality was FIB-4 with an AUC of 0.689 (95% CI 0.620 - 0.785, p=

Published
2024
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41. Frailty and diet quality index in patients with chronic HCV infection with and without cirrhosis. Preliminary report

Author

Daniela Vázquez-Rodríguez, Juan R. Rodríguez-Echevarría, David A. López-de-la-Mora, Juan M. Aldana-Ledesma, Monserrat Lazcano-Becerra, and José A. Velarde-Ruiz-Velasco

Subjects
Specialties of internal medicine, RC581-951
Abstract

Introduction and Objectives: It is estimated that 71 million people live with chronic hepatitis C viral infection (HCV). Part of the comorbidities associated with cirrhosis is frailty. Remarkably, diet is highly important in the management of cirrhosis and liver diseases. Therefore, it is necessary to evaluate the quality of the diet in this population. In this context, we evaluated the frailty and quality of the diet in patients with chronic HCV infection with or without cirrhosis, as well as the association between demographic, clinical, and anthropometric variables. Materials and Patients: A cross-sectional study was conducted in the hepatitis clinic of the Civil Hospital of Guadalajara Fray Antonio Alcalde. Each participant was required to complete the Liver Frailty index (LFI) which include hand grip strength, chair stand test and balance test. Additionally, the mini survey was applied to evaluate the quality of food consumption (Mini-ECCA v.2). This questionnaire includes 14 questions, each with 3 or 4 response options on a Likert scale. The outcome yields three classifications: “healthy food intake, habit to be improved, and unhealthy food intake.'' Finally, upper arm anthropometry was performed. P< 0.05 was considered statistically significant. Results: A preliminary sample of 20 patients was assessed. Of them, 60% (n=12) had only chronic HCV infection, 85% (n=17) of LFI were considered pre-fragile, while the rest of the participants were classified as fragile. The quality of the diet, 65% (n=13), was considered “a habit to be improved.” A relationship was found between the quality of the diet and LFI. Likewise, a negative correlation was also found between the mean arm muscle circumference (MAMC) and the LFI score (r=-0.577; p=0.008) as well as MAMC and time in chair supports (r=-0.504;p=0.023). In addition, we found a positive correlation between the MAMC and hand grip strength (r=-0.624; p=0.003). Conclusions: Some degree of frailty was found in the participants, and the quality of the diet was found to be “a habit to be improved” in most of the population sample.

Published
2024
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42. 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

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. 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
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48. 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

49. Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome

Author

Mazzanti, A, Maragna, R, Vacanti, G, Monteforte, N, Bloise, R, Marino, M, Braghieri, L, Gambelli, P, Memmi, M, Pagan, E, Morini, M, Malovini, A, Ortiz, M, Sacilotto, L, Bellazzi, R, Monserrat, L, Napolitano, C, Bagnardi, V, Priori, S, Priori, SG, Mazzanti, A, Maragna, R, Vacanti, G, Monteforte, N, Bloise, R, Marino, M, Braghieri, L, Gambelli, P, Memmi, M, Pagan, E, Morini, M, Malovini, A, Ortiz, M, Sacilotto, L, Bellazzi, R, Monserrat, L, Napolitano, C, Bagnardi, V, Priori, S, and Priori, SG

Abstract

Background: Long QT syndrome (LQTS) is a common inheritable arrhythmogenic disorder, often secondary to mutations in the KCNQ1, KCNH2, and SCN5A genes. The disease is characterized by a prolonged ventricular repolarization (QTc interval) that confers susceptibility to life-threatening arrhythmic events (LAEs). Objectives: This study sought to create an evidence-based risk stratification scheme to personalize the quantification of the arrhythmic risk in patients with LQTS. Methods: Data from 1,710 patients with LQTS followed up for a median of 7.1 years (interquartile range [IQR]: 2.7 to 13.4 years) were analyzed to estimate the 5-year risk of LAEs based on QTc duration and genotype and to assess the antiarrhythmic efficacy of beta-blockers. Results: The relationship between QTc duration and risk of events was investigated by comparison of linear and cubic spline models, and the linear model provided the best fit. The 5-year risk of LAEs while patients were off therapy was then calculated in a multivariable Cox model with QTc and genotype considered as independent factors. The estimated risk of LAEs increased by 15% for every 10-ms increment of QTc duration for all genotypes. Intergenotype comparison showed that the risk for patients with LQT2 and LTQ3 increased by 130% and 157% at any QTc duration versus patients with LQT1. Analysis of response to beta-blockers showed that only nadolol reduced the arrhythmic risk in all genotypes significantly compared with no therapy (hazard ratio: 0.38; 95% confidence interval: 0.15 to 0.93; p = 0.03). Conclusions: The study provides an estimator of risk of LAEs in LQTS that allows a granular estimate of 5-year arrhythmic risk and demonstrate the superiority of nadolol in reducing the risk of LAEs in LQTS

Published
2018

50. 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

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