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1. Ethnic comparison in takotsubo syndrome: novel insights from the International Takotsubo Registry

Author

Imori, Yoichi, Kato, Ken, Cammann, Victoria L., Szawan, Konrad A., Wischnewsky, Manfred, Dreiding, Sara, Würdinger, Michael, Schönberger, Maximilian, Petkova, Vanya, Niederseer, David, Levinson, Rena A., Di Vece, Davide, Gili, Sebastiano, Seifert, Burkhardt, Wakita, Masaki, Suzuki, Noriko, Citro, Rodolfo, Bossone, Eduardo, Heiner, Susanne, Knorr, Maike, Jansen, Thomas, Münzel, Thomas, D’Ascenzo, Fabrizio, Franke, Jennifer, Sorici-Barb, Ioana, Katus, Hugo A., Sarcon, Annahita, Shinbane, Jerold, Napp, L. Christian, Bauersachs, Johann, Jaguszewski, Milosz, Shiomura, Reiko, Nakamura, Shunichi, Takano, Hitoshi, Noutsias, Michel, Burgdorf, Christof, Ishibashi, Iwao, Himi, Toshiharu, Koenig, Wolfgang, Schunkert, Heribert, Thiele, Holger, Kherad, Behrouz, Tschöpe, Carsten, Pieske, Burkert M., Rajan, Lawrence, Michels, Guido, Pfister, Roman, Mizuno, Shingo, Cuneo, Alessandro, Jacobshagen, Claudius, Hasenfuß, Gerd, Karakas, Mahir, Mochizuki, Hiroki, Pott, Alexander, Rottbauer, Wolfgang, Said, Samir M., Braun-Dullaeus, Ruediger C., Banning, Adrian, Isogai, Toshiaki, Kimura, Akihisa, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Tomita, Yasuhiro, Budnik, Monika, Opolski, Grzegorz, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Crea, Filippo, Dichtl, Wolfgang, Murakami, Tsutomu, Ikari, Yuji, Empen, Klaus, Beug, Daniel, Felix, Stephan B., Delmas, Clément, Lairez, Olivier, Yamaguchi, Tetsuo, El-Battrawy, Ibrahim, Akin, Ibrahim, Borggrefe, Martin, Horowitz, John D., Kozel, Martin, Tousek, Petr, Widimský, Petr, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Neuhaus, Michael, Meyer, Philippe, Arroja, Jose David, Chan, Christina, Bridgman, Paul, Galuszka, Jan, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Pinto, Fausto J., Hauck, Christian, Maier, Lars S., Liu, Kan, Di Mario, Carlo, Paolini, Carla, Bilato, Claudio, Bianco, Matteo, Jörg, Lucas, Rickli, Hans, Winchester, David E., Ukena, Christian, Böhm, Michael, Bax, Jeroen J., Prasad, Abhiram, Rihal, Charanjit S., Saito, Shigeru, Kobayashi, Yoshio, Lüscher, Thomas F., Ruschitzka, Frank, Shimizu, Wataru, Ghadri, Jelena R., and Templin, Christian

Published
2022
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3. Atlas of the clinical genetics of human dilated cardiomyopathy

Author

Haas, Jan, Frese, Karen S., Peil, Barbara, Kloos, Wanda, Keller, Andreas, Nietsch, Rouven, Feng, Zhu, Müller, Sabine, Kayvanpour, Elham, Vogel, Britta, Sedaghat-Hamedani, Farbod, Lim, Wei-Keat, Zhao, Xiaohong, Fradkin, Dmitriy, Köhler, Doreen, Fischer, Simon, Franke, Jennifer, Marquart, Sabine, Barb, Ioana, Li, Daniel Tian, Amr, Ali, Ehlermann, Philipp, Mereles, Derliz, Weis, Tanja, Hassel, Sarah, Kremer, Andreas, King, Vanessa, Wirsz, Emil, Isnard, Richard, Komajda, Michel, Serio, Alessandra, Grasso, Maurizia, Syrris, Petros, Wicks, Eleanor, Plagnol, Vincent, Lopes, Luis, Gadgaard, Tenna, Eiskjær, Hans, Jørgensen, Mads, Garcia-Giustiniani, Diego, Ortiz-Genga, Martin, Crespo-Leiro, Maria G., Deprez, Rondal H. Lekanne Dit, Christiaans, Imke, van Rijsingen, Ingrid A., Wilde, Arthur A., Waldenstrom, Anders, Bolognesi, Martino, Bellazzi, Riccardo, Mörner, Stellan, Bermejo, Justo Lorenzo, Monserrat, Lorenzo, Villard, Eric, Mogensen, Jens, Pinto, Yigal M., Charron, Philippe, Elliott, Perry, Arbustini, Eloisa, Katus, Hugo A., and Meder, Benjamin

Published
2015
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5. Ethnic comparison in takotsubo syndrome: novel insights from the International Takotsubo Registry

Author

Imori, Yoichi, primary, Kato, Ken, additional, Cammann, Victoria L., additional, Szawan, Konrad A., additional, Wischnewsky, Manfred, additional, Dreiding, Sara, additional, Würdinger, Michael, additional, Schönberger, Maximilian, additional, Petkova, Vanya, additional, Niederseer, David, additional, Levinson, Rena A., additional, Di Vece, Davide, additional, Gili, Sebastiano, additional, Seifert, Burkhardt, additional, Wakita, Masaki, additional, Suzuki, Noriko, additional, Citro, Rodolfo, additional, Bossone, Eduardo, additional, Heiner, Susanne, additional, Knorr, Maike, additional, Jansen, Thomas, additional, Münzel, Thomas, additional, D’Ascenzo, Fabrizio, additional, Franke, Jennifer, additional, Sorici-Barb, Ioana, additional, Katus, Hugo A., additional, Sarcon, Annahita, additional, Shinbane, Jerold, additional, Napp, L. Christian, additional, Bauersachs, Johann, additional, Jaguszewski, Milosz, additional, Shiomura, Reiko, additional, Nakamura, Shunichi, additional, Takano, Hitoshi, additional, Noutsias, Michel, additional, Burgdorf, Christof, additional, Ishibashi, Iwao, additional, Himi, Toshiharu, additional, Koenig, Wolfgang, additional, Schunkert, Heribert, additional, Thiele, Holger, additional, Kherad, Behrouz, additional, Tschöpe, Carsten, additional, Pieske, Burkert M., additional, Rajan, Lawrence, additional, Michels, Guido, additional, Pfister, Roman, additional, Mizuno, Shingo, additional, Cuneo, Alessandro, additional, Jacobshagen, Claudius, additional, Hasenfuß, Gerd, additional, Karakas, Mahir, additional, Mochizuki, Hiroki, additional, Pott, Alexander, additional, Rottbauer, Wolfgang, additional, Said, Samir M., additional, Braun-Dullaeus, Ruediger C., additional, Banning, Adrian, additional, Isogai, Toshiaki, additional, Kimura, Akihisa, additional, Cuculi, Florim, additional, Kobza, Richard, additional, Fischer, Thomas A., additional, Vasankari, Tuija, additional, Airaksinen, K. E. Juhani, additional, Tomita, Yasuhiro, additional, Budnik, Monika, additional, Opolski, Grzegorz, additional, Dworakowski, Rafal, additional, MacCarthy, Philip, additional, Kaiser, Christoph, additional, Osswald, Stefan, additional, Galiuto, Leonarda, additional, Crea, Filippo, additional, Dichtl, Wolfgang, additional, Murakami, Tsutomu, additional, Ikari, Yuji, additional, Empen, Klaus, additional, Beug, Daniel, additional, Felix, Stephan B., additional, Delmas, Clément, additional, Lairez, Olivier, additional, Yamaguchi, Tetsuo, additional, El-Battrawy, Ibrahim, additional, Akin, Ibrahim, additional, Borggrefe, Martin, additional, Horowitz, John D., additional, Kozel, Martin, additional, Tousek, Petr, additional, Widimský, Petr, additional, Gilyarova, Ekaterina, additional, Shilova, Alexandra, additional, Gilyarov, Mikhail, additional, Neuhaus, Michael, additional, Meyer, Philippe, additional, Arroja, Jose David, additional, Chan, Christina, additional, Bridgman, Paul, additional, Galuszka, Jan, additional, Poglajen, Gregor, additional, Carrilho-Ferreira, Pedro, additional, Pinto, Fausto J., additional, Hauck, Christian, additional, Maier, Lars S., additional, Liu, Kan, additional, Di Mario, Carlo, additional, Paolini, Carla, additional, Bilato, Claudio, additional, Bianco, Matteo, additional, Jörg, Lucas, additional, Rickli, Hans, additional, Winchester, David E., additional, Ukena, Christian, additional, Böhm, Michael, additional, Bax, Jeroen J., additional, Prasad, Abhiram, additional, Rihal, Charanjit S., additional, Saito, Shigeru, additional, Kobayashi, Yoshio, additional, Lüscher, Thomas F., additional, Ruschitzka, Frank, additional, Shimizu, Wataru, additional, Ghadri, Jelena R., additional, and Templin, Christian, additional

Published
2021
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6. Coexistence and outcome of coronary artery disease in Takotsubo syndrome

Author

Napp, L. Christian, Cammann, Victoria L., Jaguszewski, Milosz, Szawan, Konrad A., Wischnewsky, Manfred, Gili, Sebastiano, Knorr, Maike, Heiner, Susanne, Citro, Rodolfo, Bossone, Eduardo, D'Ascenzo, Fabrizio, Neuhaus, Michael, Franke, Jennifer, Sorici-Barb, Ioana, Noutsias, Michel, Burgdorf, Christof, Koenig, Wolfgang, Kherad, Behrouz, Sarcon, Annahita, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Pott, Alexander, Meyer, Philippe, Arroja, Jose D., Banning, Adrian, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Hauck, Christian, Paolini, Carla, Bilato, Claudio, Imori, Yoichi, Kato, Ken, Kobayashi, Yoshio, Opolski, Grzegorz, Budnik, Monika, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Dichtl, Wolfgang, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Horowitz, John D., Polednikova, Karolina, Tousek, Petr, Widimsky, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Di Mario, Carlo, Prasad, Abhiram, Rihal, Charanjit S., Schulze, P. Christian, Bianco, Matteo, Crea, Filippo, Borggrefe, Martin, Maier, Lars S., Pinto, Fausto J., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Katus, Hugo A., Hasenfuss, Gerd, Tschoepe, Carsten, Pieske, Burkert M., Thiele, Holger, Schunkert, Heribert, Boehm, Michael, Felix, Stephan B., Muenzel, Thomas, Bax, Jeroen J., Bauersachs, Johann, Braunwald, Eugene, Luescher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R., Templin, Christian, Napp, L. Christian, Cammann, Victoria L., Jaguszewski, Milosz, Szawan, Konrad A., Wischnewsky, Manfred, Gili, Sebastiano, Knorr, Maike, Heiner, Susanne, Citro, Rodolfo, Bossone, Eduardo, D'Ascenzo, Fabrizio, Neuhaus, Michael, Franke, Jennifer, Sorici-Barb, Ioana, Noutsias, Michel, Burgdorf, Christof, Koenig, Wolfgang, Kherad, Behrouz, Sarcon, Annahita, Rajan, Lawrence, Michels, Guido, Pfister, Roman, Cuneo, Alessandro, Jacobshagen, Claudius, Karakas, Mahir, Pott, Alexander, Meyer, Philippe, Arroja, Jose D., Banning, Adrian, Cuculi, Florim, Kobza, Richard, Fischer, Thomas A., Vasankari, Tuija, Airaksinen, K. E. Juhani, Hauck, Christian, Paolini, Carla, Bilato, Claudio, Imori, Yoichi, Kato, Ken, Kobayashi, Yoshio, Opolski, Grzegorz, Budnik, Monika, Dworakowski, Rafal, MacCarthy, Philip, Kaiser, Christoph, Osswald, Stefan, Galiuto, Leonarda, Dichtl, Wolfgang, Chan, Christina, Bridgman, Paul, Beug, Daniel, Delmas, Clement, Lairez, Olivier, El-Battrawy, Ibrahim, Akin, Ibrahim, Gilyarova, Ekaterina, Shilova, Alexandra, Gilyarov, Mikhail, Horowitz, John D., Polednikova, Karolina, Tousek, Petr, Widimsky, Petr, Winchester, David E., Galuszka, Jan, Ukena, Christian, Poglajen, Gregor, Carrilho-Ferreira, Pedro, Di Mario, Carlo, Prasad, Abhiram, Rihal, Charanjit S., Schulze, P. Christian, Bianco, Matteo, Crea, Filippo, Borggrefe, Martin, Maier, Lars S., Pinto, Fausto J., Braun-Dullaeus, Ruediger C., Rottbauer, Wolfgang, Katus, Hugo A., Hasenfuss, Gerd, Tschoepe, Carsten, Pieske, Burkert M., Thiele, Holger, Schunkert, Heribert, Boehm, Michael, Felix, Stephan B., Muenzel, Thomas, Bax, Jeroen J., Bauersachs, Johann, Braunwald, Eugene, Luescher, Thomas F., Ruschitzka, Frank, Ghadri, Jelena R., and Templin, Christian

Abstract

Aims Takotsubo syndrome (US) is an acute heart failure syndrome, which shares many features with acute coronary syndrome (ACS). Although TTS was initially described with angiographically normal coronary arteries, smaller studies recently indicated a potential coexistence of coronary artery disease (CAD) in US patients. This study aimed to determine the coexistence, features, and prognostic role of CAD in a large cohort of patients with US. Methods and results Coronary anatomy and CAD were studied in patients diagnosed with US. Inclusion criteria were compliance with the International Takotsubo Diagnostic Criteria for TTS, and availability of original coronary angiographies with ventriculography performed during the acute phase. Exclusion criteria were missing views, poor quality of angiography loops, and angiography without ventriculography. A total of 1016 US patients were studied. Of those, 23.0% had obstructive CAD, 41.2% had non -obstructive CAD, and 35.7% had angiographically normal coronary arteries. A total of 47 patients (4.6%) underwent percutaneous coronary intervention, and 3 patients had acute and 8 had chronic coronary artery occlusion concomitant with US, respectively. The presence of CAD was associated with increased incidence of shock, ventilation, and death from any cause. After adjusting for confounders, the presence of obstructive CAD was associated with mortality at 30 days. Takotsubo syndrome patients with obstructive CAD were at comparable risk for shock and death and nearly at twice the risk for ventilation compared to an age- and sex-matched ACS cohort. Conclusions Coronary artery disease frequently coexists in US patients, presents with the whole spectrum of coronary pathology including acute coronary occlusion, and is associated with adverse outcome.

Published
2020

7. Coexistence and outcome of coronary artery disease in Takotsubo syndrome

Author

Napp, L Christian, primary, Cammann, Victoria L, additional, Jaguszewski, Milosz, additional, Szawan, Konrad A, additional, Wischnewsky, Manfred, additional, Gili, Sebastiano, additional, Knorr, Maike, additional, Heiner, Susanne, additional, Citro, Rodolfo, additional, Bossone, Eduardo, additional, D’Ascenzo, Fabrizio, additional, Neuhaus, Michael, additional, Franke, Jennifer, additional, Sorici-Barb, Ioana, additional, Noutsias, Michel, additional, Burgdorf, Christof, additional, Koenig, Wolfgang, additional, Kherad, Behrouz, additional, Sarcon, Annahita, additional, Rajan, Lawrence, additional, Michels, Guido, additional, Pfister, Roman, additional, Cuneo, Alessandro, additional, Jacobshagen, Claudius, additional, Karakas, Mahir, additional, Pott, Alexander, additional, Meyer, Philippe, additional, Arroja, Jose D, additional, Banning, Adrian, additional, Cuculi, Florim, additional, Kobza, Richard, additional, Fischer, Thomas A, additional, Vasankari, Tuija, additional, Airaksinen, K E Juhani, additional, Hauck, Christian, additional, Paolini, Carla, additional, Bilato, Claudio, additional, Imori, Yoichi, additional, Kato, Ken, additional, Kobayashi, Yoshio, additional, Opolski, Grzegorz, additional, Budnik, Monika, additional, Dworakowski, Rafal, additional, MacCarthy, Philip, additional, Kaiser, Christoph, additional, Osswald, Stefan, additional, Galiuto, Leonarda, additional, Dichtl, Wolfgang, additional, Chan, Christina, additional, Bridgman, Paul, additional, Beug, Daniel, additional, Delmas, Clément, additional, Lairez, Olivier, additional, El-Battrawy, Ibrahim, additional, Akin, Ibrahim, additional, Gilyarova, Ekaterina, additional, Shilova, Alexandra, additional, Gilyarov, Mikhail, additional, Horowitz, John D, additional, Polednikova, Karolina, additional, Tousek, Petr, additional, Widimský, Petr, additional, Winchester, David E, additional, Galuszka, Jan, additional, Ukena, Christian, additional, Poglajen, Gregor, additional, Carrilho-Ferreira, Pedro, additional, Di Mario, Carlo, additional, Prasad, Abhiram, additional, Rihal, Charanjit S, additional, Schulze, P Christian, additional, Bianco, Matteo, additional, Crea, Filippo, additional, Borggrefe, Martin, additional, Maier, Lars S, additional, Pinto, Fausto J, additional, Braun-Dullaeus, Ruediger C, additional, Rottbauer, Wolfgang, additional, Katus, Hugo A, additional, Hasenfuß, Gerd, additional, Tschöpe, Carsten, additional, Pieske, Burkert M, additional, Thiele, Holger, additional, Schunkert, Heribert, additional, Böhm, Michael, additional, Felix, Stephan B, additional, Münzel, Thomas, additional, Bax, Jeroen J, additional, Bauersachs, Johann, additional, Braunwald, Eugene, additional, Lüscher, Thomas F, additional, Ruschitzka, Frank, additional, Ghadri, Jelena R, additional, and Templin, Christian, additional

Published
2020
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8. Prediction of short‐ and long‐term mortality in takotsubo syndrome: the InterTAK Prognostic Score

Author

Wischnewsky, Manfred B., primary, Candreva, Alessandro, additional, Bacchi, Beatrice, additional, Cammann, Victoria L., additional, Kato, Ken, additional, Szawan, Konrad A., additional, Gili, Sebastiano, additional, D'Ascenzo, Fabrizio, additional, Dichtl, Wolfgang, additional, Citro, Rodolfo, additional, Bossone, Eduardo, additional, Neuhaus, Michael, additional, Franke, Jennifer, additional, Sorici‐Barb, Ioana, additional, Jaguszewski, Milosz, additional, Noutsias, Michel, additional, Knorr, Maike, additional, Heiner, Susanne, additional, Burgdorf, Christof, additional, Kherad, Behrouz, additional, Tschöpe, Carsten, additional, Sarcon, Annahita, additional, Shinbane, Jerold, additional, Rajan, Lawrence, additional, Michels, Guido, additional, Pfister, Roman, additional, Cuneo, Alessandro, additional, Jacobshagen, Claudius, additional, Karakas, Mahir, additional, Koenig, Wolfgang, additional, Pott, Alexander, additional, Meyer, Philippe, additional, Arroja, Jose David, additional, Banning, Adrian, additional, Cuculi, Florim, additional, Kobza, Richard, additional, Fischer, Thomas A., additional, Vasankari, Tuija, additional, Airaksinen, K.E. Juhani, additional, Napp, L. Christian, additional, Budnik, Monika, additional, Dworakowski, Rafal, additional, MacCarthy, Philip, additional, Kaiser, Christoph, additional, Osswald, Stefan, additional, Galiuto, Leonarda, additional, Chan, Christina, additional, Bridgman, Paul, additional, Beug, Daniel, additional, Delmas, Clément, additional, Lairez, Olivier, additional, El‐Battrawy, Ibrahim, additional, Akin, Ibrahim, additional, Gilyarova, Ekaterina, additional, Shilova, Alexandra, additional, Gilyarov, Mikhail, additional, Kozel, Martin, additional, Tousek, Petr, additional, Winchester, David E., additional, Galuszka, Jan, additional, Ukena, Christian, additional, Poglajen, Gregor, additional, Carrilho‐Ferreira, Pedro, additional, Hauck, Christian, additional, Paolini, Carla, additional, Bilato, Claudio, additional, Prasad, Abhiram, additional, Rihal, Charanjit S., additional, Liu, Kan, additional, Schulze, P. Christian, additional, Bianco, Matteo, additional, Jörg, Lucas, additional, Rickli, Hans, additional, Nguyen, Thanh H., additional, Kobayashi, Yoshio, additional, Böhm, Michael, additional, Maier, Lars S., additional, Pinto, Fausto J., additional, Widimský, Petr, additional, Borggrefe, Martin, additional, Felix, Stephan B., additional, Opolski, Grzegorz, additional, Braun‐Dullaeus, Ruediger C., additional, Rottbauer, Wolfgang, additional, Hasenfuß, Gerd, additional, Pieske, Burkert M., additional, Schunkert, Heribert, additional, Thiele, Holger, additional, Bauersachs, Johann, additional, Katus, Hugo A., additional, Horowitz, John, additional, Di Mario, Carlo, additional, Münzel, Thomas, additional, Crea, Filippo, additional, Bax, Jeroen J., additional, Lüscher, Thomas F., additional, Ruschitzka, Frank, additional, Ghadri, Jelena R., additional, and Templin, Christian, additional

Published
2019
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9. Broken Heart. Wenn Frauenherzen brechen

Author

Katus, Hugo A., Meder, Benjamin, and Barb, Ioana

Abstract

In der Philosophie, in Literatur, Kunst und Musik wird die Metapher vom „gebrochenen Herzen“ seit Jahrhunderten verwendet. Jetzt trägt auch ein medizinisches Phänomen diesen Namen: das „Broken-Heart-Syndrom“. Betroffen sind zumeist Frauen, voraus gehen oft schwere seelische Erschütterungen., Ruperto Carola, Nr. 10 (2017): Frau & Mann

Published
2017
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10. Atlas of the clinical genetics of human dilated cardiomyopathy

Author

Haas, Jan, Frese, Karen S., Peil, Barbara, Kloos, Wanda, Keller, Andreas, Nietsch, Rouven, Feng, Zhu, Müller, Sabine, Kayvanpour, Elham, Vogel, Britta, Sedaghat-Hamedani, Farbod, Lim, Wie-Keat, Zhao, Xiaohong, Fradkin, Dmitriy, Köhler, Doreen, Fischer, Simon, Franke, Jennifer, Marquart, Sabine, Barb, Ioana, Li, Daniel Tian, Amr, Ali, Ehlermann, Philipp, Mereles, Derliz, Weis, Tanja, Hassel, Sarah, Kremer, Andreas, King, Vanessa, Wirsz, Emil, Isnard, Richard, Komajda, Michel, Serio, Alessandra, Grasso, Maurizia, Syrris, Petros, Wicks, Eleanor, Plagnol, Vincent, Lopes, Luis, Gadgaard, Tenna, Eiskjaer, Hans, Jorgensen, Mads, García-Giustiniani, Diego, Ortiz-Genga, Martín, Crespo-Leiro, María Generosa, Deprez, Rondal H. Lekanne Dit, Christiaans, Imke, Rijsingen, Ingrid A. van, Wilde, Arthur A., Waldenstrom, Anders, Bolognesi, Martino, Bellazzi, Riccardo, Mörner, Stellan, Lorenzo Bermejo, Justo, Monserrat, Lorenzo, Villard, Eric, Mogensen, Jens, Pinto, Yigal M., Charron, Philippe, Elliott, Perry, Arbustini, Eloisa, Katus, Hugo A., Meder, Benjamin, Haas, Jan, Frese, Karen S., Peil, Barbara, Kloos, Wanda, Keller, Andreas, Nietsch, Rouven, Feng, Zhu, Müller, Sabine, Kayvanpour, Elham, Vogel, Britta, Sedaghat-Hamedani, Farbod, Lim, Wie-Keat, Zhao, Xiaohong, Fradkin, Dmitriy, Köhler, Doreen, Fischer, Simon, Franke, Jennifer, Marquart, Sabine, Barb, Ioana, Li, Daniel Tian, Amr, Ali, Ehlermann, Philipp, Mereles, Derliz, Weis, Tanja, Hassel, Sarah, Kremer, Andreas, King, Vanessa, Wirsz, Emil, Isnard, Richard, Komajda, Michel, Serio, Alessandra, Grasso, Maurizia, Syrris, Petros, Wicks, Eleanor, Plagnol, Vincent, Lopes, Luis, Gadgaard, Tenna, Eiskjaer, Hans, Jorgensen, Mads, García-Giustiniani, Diego, Ortiz-Genga, Martín, Crespo-Leiro, María Generosa, Deprez, Rondal H. Lekanne Dit, Christiaans, Imke, Rijsingen, Ingrid A. van, Wilde, Arthur A., Waldenstrom, Anders, Bolognesi, Martino, Bellazzi, Riccardo, Mörner, Stellan, Lorenzo Bermejo, Justo, Monserrat, Lorenzo, Villard, Eric, Mogensen, Jens, Pinto, Yigal M., Charron, Philippe, Elliott, Perry, Arbustini, Eloisa, Katus, Hugo A., and Meder, Benjamin

Abstract

[Abstract] Aim. Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome these limitations and screened all DCM disease genes in a large cohort. Methods and results. In this multi-centre, multi-national study, we have enrolled 639 patients with sporadic or familial DCM. To all samples, we applied a standardized protocol for ultra-high coverage next-generation sequencing of 84 genes, leading to 99.1% coverage of the target region with at least 50-fold and a mean read depth of 2415. In this well characterized cohort, we find the highest number of known cardiomyopathy mutations in plakophilin-2, myosin-binding protein C-3, and desmoplakin. When we include yet unknown but predicted disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations is considerably high. Of note, we find that >38% of patients have compound or combined mutations and 12.8% have three or even more mutations. When comparing patients recruited in the eight participating European countries we find remarkably little differences in mutation frequencies and affected genes. Conclusion. This is to our knowledge, the first study that comprehensively investigated the genetics of DCM in a large-scale cohort and across a broad gene panel of the known DCM genes. Our results underline the high analytical quality and feasibility of Next-Generation Sequencing in clinical genetic diagnostics and provide a sound database of the genetic causes of DCM.

Published
2014

11. Atlas of the clinical genetics of human dilated cardiomyopathy

Author

Haas, Jan, primary, Frese, Karen S., additional, Peil, Barbara, additional, Kloos, Wanda, additional, Keller, Andreas, additional, Nietsch, Rouven, additional, Feng, Zhu, additional, Müller, Sabine, additional, Kayvanpour, Elham, additional, Vogel, Britta, additional, Sedaghat-Hamedani, Farbod, additional, Lim, Wei-Keat, additional, Zhao, Xiaohong, additional, Fradkin, Dmitriy, additional, Köhler, Doreen, additional, Fischer, Simon, additional, Franke, Jennifer, additional, Marquart, Sabine, additional, Barb, Ioana, additional, Li, Daniel Tian, additional, Amr, Ali, additional, Ehlermann, Philipp, additional, Mereles, Derliz, additional, Weis, Tanja, additional, Hassel, Sarah, additional, Kremer, Andreas, additional, King, Vanessa, additional, Wirsz, Emil, additional, Isnard, Richard, additional, Komajda, Michel, additional, Serio, Alessandra, additional, Grasso, Maurizia, additional, Syrris, Petros, additional, Wicks, Eleanor, additional, Plagnol, Vincent, additional, Lopes, Luis, additional, Gadgaard, Tenna, additional, Eiskjær, Hans, additional, Jørgensen, Mads, additional, Garcia-Giustiniani, Diego, additional, Ortiz-Genga, Martin, additional, Crespo-Leiro, Maria G., additional, Deprez, Rondal H. Lekanne Dit, additional, Christiaans, Imke, additional, van Rijsingen, Ingrid A., additional, Wilde, Arthur A., additional, Waldenstrom, Anders, additional, Bolognesi, Martino, additional, Bellazzi, Riccardo, additional, Mörner, Stellan, additional, Bermejo, Justo Lorenzo, additional, Monserrat, Lorenzo, additional, Villard, Eric, additional, Mogensen, Jens, additional, Pinto, Yigal M., additional, Charron, Philippe, additional, Elliott, Perry, additional, Arbustini, Eloisa, additional, Katus, Hugo A., additional, and Meder, Benjamin, additional

Published
2014
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