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3. 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

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

Author

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

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

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

Published
2022

7. 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

9. 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. Konté, 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. Hagège, A. Heliö, 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. Pfeiffer, B. 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. Klöpping, C. Van Der Heijden, J.F. De Jonge, N. Sikora-Puz, A. Wybraniec, M. Czekaj, A. Francisco, A.R. Brito, D. 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. on behalf of the EORP Cardiomyopathy Registry Pilot Investigators

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. © The Author 2015.

Published
2016

12. Long-term outcomes and reverse remodelling in recently diagnosed unexplained left ventricular systolic dysfunction.

Author

Kuchynka P, Podzimkova J, Marek J, Danek BA, Vitkova I, Kreidlova M, Roblova L, Kovarnik T, Simek S, Horak J, Habasko J, Linhart A, and Palecek T

Subjects
Humans, Female, Ventricular Function, Left physiology, Prognosis, Cardiomyopathy, Dilated, Ventricular Dysfunction, Left complications, Heart Failure
Abstract

Aims: In patients with recently diagnosed non-ischaemic LV systolic dysfunction, left ventricular reverse remodelling (LVRR) and favourable prognosis has been documented in studies with short-term follow-up. The aim of our study was to assess the long-term clinical course and stability of LVRR in these patients., Methods and Results: We prospectively studied 133 patients (37 women; 55 [interquartile range 46, 61] years) with recently diagnosed unexplained LV systolic dysfunction, with heart failure symptoms lasting <6 months and LV ejection fraction <40% persisting after at least 1 week of therapy. All patients underwent endomyocardial biopsy (EMB) at the time of diagnosis and serial echocardiographic and clinical follow-up over 5 years. LVRR was defined as the combined presence of (1) LVEF ≥ 50% or increase in LVEF ≥ 10% points and (2) decrease in LV end-diastolic diameter index (LVEDDi) ≥ 10% or (3) LVEDDi ≤ 33 mm/m 2 . LVRR was observed in 46% patients at 1 year, in 60% at 2 years and 50% at 5 years. Additionally, 2% of patients underwent heart transplantation and 12% experienced heart failure hospitalization. During 5-year follow-up, 23 (17%) of the study cohort died. In multivariate analysis, independent predictors of mortality were baseline right atrial size (OR 1.097, CI 1.007-1.196), logBNP level (OR 2.02, CI 1.14-3.56), and PR interval (OR 1.02, CI 1.006-1.035) (P < 0.05 for all). The number of macrophages on EMB was associated with overall survival in univariate analysis only. LVRR at 1 year of follow-up was associated with a lower rate of mortality and heart failure hospitalization (P = 0.025). In multivariate analysis, independent predictors of LVRR were left ventricular end-diastolic volume index (OR 0.97, CI 0.946-0.988), LVEF (OR 0.89, CI 0.83-0.96), and diastolic blood pressure (OR 1.04, CI 1.01-1.08) (P < 0.05 for all)., Conclusions: LVRR occurs in over half of patients with recent onset unexplained LV systolic dysfunction during first 2 years of optimally guided heart failure therapy and then remains relatively stable during 5-year follow-up. Normalization of adverse LV remodelling corresponds to a low rate of mortality and heart failure hospitalizations during long-term follow-up., (© 2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)

Published
2024
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13. Needle fragment embolism into the right ventricle: a rare cause of chest pain case report and literature review.

Author

Danek BA, Kuchynka P, Palecek T, Cerny V, Hlavacek K, Lambert L, Nemecek E, Podzimkova J, and Linhart A

Subjects
Adult, Chest Pain diagnosis, Diagnosis, Differential, Foreign-Body Migration complications, Foreign-Body Migration diagnosis, Humans, Treatment Outcome, Venous Thromboembolism diagnosis, Chest Pain etiology, Embolism diagnosis, Embolism etiology, Heart Ventricles injuries, Needles adverse effects, Venous Thromboembolism etiology
Abstract

Chest pain in young adults is usually self-limited and of benign etiology. However, rare causes of chest pain must be considered in patients for whom initial diagnostic tests are negative, particularly if unusual risk factors are identified. The authors present a rare case describing a 27-year-old male intravenous drug user who developed transient chest pain most likely secondary to pericardial irritation caused by a needle fragment that embolized from a peripheral vein to his right ventricle. The current literature on intracardiac needles and similar foreign bodies is discussed, providing insight to the epidemiology, complications, and treatment of such patients.

Published
2016
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14. Absence of Borrelia burgdorferi in the myocardium of subjects with normal left ventricular systolic function: a study using PCR and electron microscopy.

Author

Kuchynka P, Palecek T, Grus T, Lindner J, Berenova D, Kurzova Z, Balatova P, Krsek D, Vitkova I, Nemecek E, Podzimkova J, Danek AB, and Linhart A

Subjects
Aged, Cardiomyopathy, Dilated physiopathology, Enzyme-Linked Immunosorbent Assay, Female, Humans, Lyme Disease physiopathology, Male, Microscopy, Electron methods, Myocarditis microbiology, Myocarditis physiopathology, Polymerase Chain Reaction methods, Prospective Studies, Ventricular Function, Left physiology, Borrelia burgdorferi isolation & purification, Cardiomyopathy, Dilated microbiology, Heart microbiology, Lyme Disease pathology, Myocardium pathology
Abstract

Background: Several studies have demonstrated the presence of the Borrelia burgdorferi (Bb) genome in the myocardium of patients with dilated cardiomyopathy (DCM). To further support a causal relationship between the presence of Bb in the heart muscle and the development of DCM, demonstration of the absence of Bb in the myocardium of subjects with normal left ventricular (LV) systolic function is needed., Aim: To determine the prevalence of Bb by polymerase chain reaction (PCR) and electron microscopy (EM) in individuals with normal LV systolic function and no history suggestive of myocarditis., Methods: We investigated 50 patients (67 ± 9 years, 15 women) with normal LV ejection fraction (EF) ≥ 50% undergoing cardiac surgery. During surgery, four samples from the right atrial appendage were obtained and subsequently examined by PCR and EM for the presence of Bb, and by immunohistochemistry to detect inflammatory cells. Serological testing of antibodies against Bb was also performed., Results: Neither PCR nor EM detected Bb in any of the subjects. Immunohistological examination revealed myocardial inflammation in 2 individuals (4%). Serological analysis by enzyme-linked immunosorbent assay demonstrated IgM antibodies against Bb in 4% and IgG antibodies in 12% of the study cohort; Western blot revealed IgM as well as IgG positivity in 14% of patients., Conclusions: The absence of Bb in the myocardium of individuals who undergo cardiac surgery and have normal LV systolic function supports the idea of Bb pathogenicity in the development of DCM.

Published
2016
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15. A high frequency of viral agents yet absence of Borrelia burgdorferi is seen within the myocardium of subjects with normal left ventricular systolic function: an electron microscopy study.

Author

Kuchynka P, Palecek T, Grus T, Schramlova J, Krsek D, Vitkova I, Rohn V, Lindner J, Wicks E, Nemecek E, Dostalova G, Podzimkova J, and Linhart A

Subjects
Aged, Antiviral Agents adverse effects, Antiviral Agents therapeutic use, Blood Pressure, Borrelia burgdorferi genetics, Borrelia burgdorferi isolation & purification, Borrelia burgdorferi ultrastructure, Cardiomyopathy, Dilated physiopathology, Cardiomyopathy, Dilated virology, Female, Heart microbiology, Heart physiopathology, Heart virology, Humans, Lyme Disease classification, Lyme Disease microbiology, Lyme Disease physiopathology, Male, Microscopy, Electron, Middle Aged, Myocardium ultrastructure, Prospective Studies, Ventricular Function, Left, Virus Diseases drug therapy, Virus Diseases virology, Viruses classification, Viruses genetics, Viruses isolation & purification, Viruses ultrastructure, Borrelia burgdorferi physiology, Cardiomyopathy, Dilated microbiology, Virus Diseases complications
Abstract

A wide range of viral agents is associated with the development of acute myocarditis and its possible chronic sequela, dilated cardiomyopathy (DCM). There is also increasing evidence that Borrelia burgdorferi (Bb) is associated with DCM in endemic regions for Bb infection. This study sought to use electron microscopy to prospectively analyze the presence of viruses and Bb within the myocardium of 40 subjects with preserved left ventricular (LV) ejection fraction and 40 patients with new-onset unexplained DCM during the same time period. Virus particles were found within the myocardium of 23 subjects (58%) of both cohorts studied, yet there was no statistically significant difference in virus family presence between those with DCM versus those with preserved LV systolic function. In contrast, Bb was detected only in those subjects with DCM (0 versus 5 subjects; p ˂ 0.05). Polymerase chain reaction was performed on samples from patients who were positive for Bb according to electron microscopy, and Bb was confirmed in 4 out of 5 individuals. Our results demonstrate that the prevalence of viral particles does not differ between subjects with preserved LV systolic function versus those with DCM and therefore suggests that the mere presence of a viral agent within the myocardium is not sufficient to establish a clear link with the development of DCM. In contrast, the presence of Bb was found only within myocardial samples of patients with DCM; this finding supports the idea of a causal relationship between Bb infection and DCM development.

Published
2016
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16. Recent-onset dilated cardiomyopathy associated with Borrelia burgdorferi infection.

Author

Kuchynka P, Palecek T, Havranek S, Vitkova I, Nemecek E, Trckova R, Berenová D, Krsek D, Podzimkova J, Fikrle M, Danek BA, and Linhart A

Subjects
Anti-Bacterial Agents administration & dosage, Cardiomyopathy, Dilated diagnosis, Cardiotonic Agents administration & dosage, Ceftriaxone administration & dosage, Drug Therapy, Combination methods, Endocarditis, Bacterial diagnosis, Female, Humans, Injections, Intravenous, Lyme Disease diagnosis, Lyme Disease microbiology, Male, Middle Aged, Treatment Outcome, Borrelia burgdorferi isolation & purification, Cardiomyopathy, Dilated drug therapy, Cardiomyopathy, Dilated microbiology, Endocarditis, Bacterial drug therapy, Endocarditis, Bacterial microbiology, Lyme Disease drug therapy
Abstract

Background: Several recent small studies have suggested a causal link between Lyme disease and dilated cardiomyopathy (DCM) by demonstrating the presence of the Borrelia burgdorferi (Bb) genome in the myocardium of patients with recent-onset DCM. The aim of this study was to further investigate the effect of targeted antibiotic treatment of Bb-related recent-onset DCM in a larger cohort of patients., Patients and Methods: We performed endomyocardial biopsy (EMB) in 110 individuals (53 ± 11 years, 34 women) with recent-onset unexplained DCM, and detected the Bb genome in 22 (20 %) subjects. Bb-positive patients were subsequently treated with intravenous ceftriaxone for 21 days in addition to conventional heart failure medication., Results: At the 1-year follow-up, a significant improvement in left ventricular (LV) ejection fraction (26 ± 6  vs. 44 ± 12 %; p < 0.01) and a decrease in LV end-diastolic (69 ± 7 vs. 63 ± 11 mm; p < 0.01) and end-systolic (61 ± 9 vs. 52 ± 4 mm; p < 0.01) diameters were documented. Moreover, a significant improvement in heart failure symptoms (NYHA class 3.4 ± 0.6 vs. 1.5 ± 0.7; p < 0.01) was also observed., Conclusion: Targeted antibiotic treatment of Bb-related recent-onset DCM in addition to conventional heart failure therapy is associated with favorable cardiac remodeling and improvement of heart failure symptoms.

Published
2015
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17. The Role of Magnetic Resonance Imaging and Cardiac Computed Tomography in the Assessment of Left Atrial Anatomy, Size, and Function.

Author

Kuchynka P, Podzimkova J, Masek M, Lambert L, Cerny V, Danek B, and Palecek T

Subjects
Atrial Fibrillation diagnostic imaging, Atrial Fibrillation pathology, Catheter Ablation, Heart Atria diagnostic imaging, Humans, Atrial Function, Left physiology, Heart Atria physiopathology, Magnetic Resonance Imaging, Tomography, X-Ray Computed
Abstract

In the last decade, there has been increasing evidence that comprehensive evaluation of the left atrium is of utmost importance. Numerous studies have clearly demonstrated the prognostic value of left atrial volume for long-term outcome. Furthermore, advances in catheter ablation procedures used for the treatment of drug-refractory atrial fibrillation require the need for detailed knowledge of left atrial and pulmonary venous morphology as well of atrial wall characteristics. This review article discusses the role of cardiac magnetic resonance and computed tomography in assessment of left atrial size, its normal and abnormal morphology, and function. Special interest is paid to the utility of these rapidly involving noninvasive imaging methods before and after atrial fibrillation ablation.

Published
2015
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