Search Results - "probst, vincent"

SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes by Wu, Cheng-I, Postema, Pieter G., Arbelo, Elena, Behr, Elijah R., Bezzina, Connie R., Napolitano, Carlo, Robyns, Tomas, Probst, Vincent, Schulze-Bahr, Eric, Remme, Carol Ann, Wilde, Arthur A.M.

“…Ever since the first case was reported at the end of 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the associated coronavirus…”
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Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome by Tadros, Rafik, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W.T., Bezzina, Connie R.

“…Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large…”
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An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing by Kapplinger, Jamie D., BA, Tester, David J., BS, Alders, Marielle, PhD, Benito, Begoña, MD, Berthet, Myriam, BA, Brugada, Josep, MD, PhD, Brugada, Pedro, MD, PhD, Fressart, Véronique, MD, Guerchicoff, Alejandra, PhD, Harris-Kerr, Carole, PhD, Kamakura, Shiro, MD, PhD, Kyndt, Florence, PhD, Koopmann, Tamara T., PhD, Miyamoto, Yoshihiro, MD, Pfeiffer, Ryan, BS, Pollevick, Guido D., PhD, Probst, Vincent, MD, PhD, Zumhagen, Sven, MD, Vatta, Matteo, PhD, Towbin, Jeffrey A., MD, Shimizu, Wataru, MD, PhD, Schulze-Bahr, Eric, MD, Antzelevitch, Charles, PhD, Salisbury, Benjamin A., PhD, Guicheney, Pascale, PhD, Wilde, Arthur A.M., MD, PhD, Brugada, Ramon, MD, PhD, Schott, Jean-Jacques, PhD, Ackerman, Michael J., MD, PhD

“…Background Brugada syndrome (BrS) is a common heritable channelopathy. Mutations in the SCN5A -encoded sodium channel (BrS1) culminate in the most common…”
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Practical Instructions for the 2018 ESC Guidelines for the diagnosis and management of syncope by Brignole, Michele, Moya, Angel, de Lange, Frederik J, Deharo, Jean-Claude, Elliott, Perry M, Fanciulli, Alessandra, Fedorowski, Artur, Furlan, Raffaello, Kenny, Rose Anne, Martín, Alfonso, Probst, Vincent, Reed, Matthew J, Rice, Ciara P, Sutton, Richard, Ungar, Andrea, van Dijk, J Gert

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Drugs and Brugada syndrome patients: Review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org) by Postema, Pieter G., MD, Wolpert, Christian, MD, Amin, Ahmad S., MD, Probst, Vincent, MD, PhD, Borggrefe, Martin, MD, PhD, Roden, Dan M., MD, Priori, Silvia G., MD, PhD, Tan, Hanno L., MD, PhD, Hiraoka, Masayasu, MD, PhD, Brugada, Josep, MD, PhD, Wilde, Arthur A.M., MD, PhD

“…Background Worldwide, the Brugada syndrome has been recognized as an important cause of sudden cardiac death in individuals at a relatively young age…”
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization by Arking, Dan E, Crotti, Lia, Munroe, Patricia B, Koopmann, Tamara T, Sotoodehnia, Nona, Rossin, Elizabeth J, Wang, Xinchen, Johnson, Andrew D, Tarasov, Kirill V, Dörr, Marcus, Nolte, Ilja M, Bis, Joshua C, Isaacs, Aaron, Newhouse, Stephen J, Ellinghaus, David, Hayward, Caroline, Navarro, Pau, Tanaka, Toshiko, Kumari, Meena, Morris, Richard W, Naluai, Åsa T, Panayiotou, Andrie G, Knoflach, Michael, Kumar, Runjun D, Alonso, Alvaro, Bader, Joel S, Huang, Hailiang, Kao, W H Linda, Brown, Morris, Kronenberg, Florian, Smith, J Gustav, Carella, Massimo, Zelante, Leopoldo, Heckbert, Susan R, Rotter, Jerome I, Griffin, Maura, Arnar, David O, Hólm, Hilma, Denny, Joshua C, Zuvich, Rebecca L, Emilsson, Valur, Plump, Andrew S, Larson, Martin G, O'Donnell, Christopher J, Yin, Xiaoyan, Cummings, Steven R, Kontula, Kimmo K, Marjamaa, Annukka, Erbel, Raimund, den Hoed, Marcel, Loos, Ruth J F, Thelle, Dag S, Peters, Annette, Prucha, Hanna, Waldenberger, Melanie, Franke, Lude, van der Vleuten, Pieter A, Beckmann, Britt Maria, Martens, Eimo, Wilde, Arthur A M, Medeiros-Domingo, Argelia, Probst, Vincent, Insolia, Roberto, Hamilton, Robert M, Margulies, Kenneth, Moravec, Christine E, O'Connell, Jeffrey R, Campbell, Harry, Wild, Sarah H, El Mokhtari, Nour E, Frey, Norbert, Asselbergs, Folkert W, van den Berg, Maarten P, van Veldhuisen, Dirk J, Lamina, Claudia, Abecasis, Gonçalo R, Lakatta, Edward G, Markus, Marcello R P, Völker, Uwe, Snieder, Harold, Spector, Timothy D, Ärnlöv, Johan, Kiechl, Stefan, Nyberg, Fredrik, Whincup, Peter H, Schott, Jean-Jacques, Ferrucci, Luigi, Gasparini, Paolo, Wilson, James F, Franke, Andre, Mühleisen, Thomas W, Pramstaller, Peter P, Lehtimäki, Terho J, Felix, Stephan B, Sanna, Serena, Ritchie, Marylyn D, Cappola, Thomas P, Olsen, Jesper V, Lage, Kasper, Kääb, Stefan

“…Christopher Newton-Cheh and colleagues report genome-wide association analyses for QT interval, an electrocardiographic measure reflecting myocardial…”
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls by Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Glinge, Charlotte, Nannenberg, Eline A., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Clauss, Sebastian, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Ellinor, Patrick T., Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P.C., Kurabayashi, Masahiko, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Sahin, Hatice, Sarquella-Brugada, Georgia, Sharma, Sanjay, Sheppard, Mary N., Shoemaker, M.Benjamin, Stallmeyer, Birgit, Tanaka, Yuji, Tester, David J., van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G.A., Lubitz, Steven A., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Arnaout, Alain Al, Amelot, Mathieu, Anselme, Frédéric, Billon, Olivier, Jesel, Laurence, Laurent, Gabriel, Maury, Philippe, Pasquie, Jean-Luc, Wiart, Francois, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.

“…Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long…”
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Long-Term Follow-Up of Patients With Short QT Syndrome by Giustetto, Carla, MD, Schimpf, Rainer, MD, Mazzanti, Andrea, MD, Scrocco, Chiara, MD, Maury, Philippe, MD, Anttonen, Olli, MD, Probst, Vincent, MD, PhD, Blanc, Jean-Jacques, MD, Sbragia, Pascal, MD, Dalmasso, Paola, MS, Borggrefe, Martin, MD, Gaita, Fiorenzo, MD

“…Objectives The aim of this study was to investigate the clinical characteristics and the long-term course of a large cohort of patients with short QT syndrome…”
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The QUIDAM study: Hydroquinidine therapy for the management of Brugada syndrome patients at high arrhythmic risk by Andorin, Antoine, MD, Gourraud, Jean-Baptiste, MD, PhD, Mansourati, Jacques, MD, Fouchard, Swanny, PhD, le Marec, Hervé, MD, PhD, Maury, Philippe, MD, Mabo, Philippe, MD, PhD, Hermida, Jean-Sylvain, MD, Deharo, Jean-Claude, MD, Delasalle, Béatrice, MS, Esnault, Simon, MD, Sadoul, Nicolas, MD, Davy, Jean-Marc, MD, PhD, Leenhardt, Antoine, MD, Klug, Didier, MD, Defaye, Pascal, MD, Babuty, Dominique, MD, PhD, Sacher, Frédéric, MD, Probst, Vincent, MD, PhD

“…Background Although the implantable cardioverter–defibrillator (ICD) remains the main therapy for Brugada syndrome (BrS), it does not reduce life-threatening…”
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Increased Tpeak-Tend interval is highly and independently related to arrhythmic events in Brugada syndrome by Maury, Philippe, MD, Sacher, Frederic, MD, Gourraud, Jean-Baptiste, MD, Pasquié, Jean-Luc, MD, Raczka, Franck, MD, Bongard, Vanina, PhD, Duparc, Alexandre, MD, Mondoly, Pierre, MD, Sadron, Marie, MD, Chatel, Stephanie, PhD, Derval, Nicolas, MD, Denis, Arnaud, MD, Cardin, Christelle, MD, Davy, Jean-Marc, MD, Hocini, Meleze, MD, Jaïs, Pierre, MD, Jesel, Laurence, MD, Carrié, Didier, MD, Galinier, Michel, MD, Haïssaguerre, Michel, MD, Probst, Vincent, MD, Rollin, Anne, MD

“…Background Risk stratification in Brugada syndrome (BS) remains controversial. The time interval between the peak and the end of the T wave (Tpe interval), a…”
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Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel by Liu, Hui, Chatel, Stéphanie, Simard, Christophe, Syam, Ninda, Salle, Laurent, Probst, Vincent, Morel, Julie, Millat, Gilles, Lopez, Michel, Abriel, Hugues, Schott, Jean-Jacques, Guinamard, Romain, Bouvagnet, Patrice

“…Brugada syndrome (BrS) is a condition defined by ST-segment alteration in right precordial leads and a risk of sudden death. Because BrS is often associated…”
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Genetics of syndromic and non-syndromic mitral valve prolapse by Le Tourneau, Thierry, Mérot, Jean, Rimbert, Antoine, Le Scouarnec, Solena, Probst, Vincent, Le Marec, Hervé, Levine, Robert A, Schott, Jean-Jacques

“…Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan…”
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Fever-related arrhythmic events in the multicenter Survey on Arrhythmic Events in Brugada Syndrome by Michowitz, Yoav, Milman, Anat, Sarquella-Brugada, Georgia, Andorin, Antoine, Champagne, Jean, Postema, Pieter G., Casado-Arroyo, Ruben, Leshem, Eran, Juang, Jimmy J.M., Giustetto, Carla, Tfelt-Hansen, Jacob, Wijeyeratne, Yanushi D., Veltmann, Christian, Corrado, Domenico, Kim, Sung-Hwan, Delise, Pietro, Maeda, Shingo, Gourraud, Jean-Baptiste, Sacher, Frederic, Mabo, Philippe, Takahashi, Yoshihide, Kamakura, Tsukasa, Aiba, Takeshi, Conte, Giulio, Hochstadt, Aviram, Mizusawa, Yuka, Rahkovich, Michael, Arbelo, Elena, Huang, Zhengrong, Denjoy, Isabelle, Napolitano, Carlo, Brugada, Ramon, Calo, Leonardo, Priori, Silvia G., Takagi, Masahiko, Behr, Elijah R., Gaita, Fiorenzo, Yan, Gan-Xin, Brugada, Josep, Leenhardt, Antoine, Wilde, Arthur A.M., Brugada, Pedro, Kusano, Kengo F., Hirao, Kenzo, Nam, Gi-Byoung, Probst, Vincent, Belhassen, Bernard

“…The literature on fever-related arrhythmic events (AEs) in Brugada syndrome (BrS) is currently limited to few case reports and small series. The present study…”
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Identification of Large Families in Early Repolarization Syndrome by Gourraud, Jean-Baptiste, MD, Le Scouarnec, Solena, PhD, Sacher, Frederic, MD, Chatel, Stéphanie, PhD, Derval, Nicolas, MD, Portero, Vincent, MS, Chavernac, Pascal, MD, Sandoval, Juan E., PhD, Mabo, Philippe, MD, PhD, Redon, Richard, PhD, Schott, Jean-Jacques, PhD, Le Marec, Hervé, MD, PhD, Haïssaguerre, Michel, MD, PhD, Probst, Vincent, MD, PhD

“…Objectives The aim of this study was to identify families affected by early repolarization syndrome (ERS) and to determine the mode of transmission of the…”
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Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study by Behr, Elijah R, Savio-Galimberti, Eleonora, Barc, Julien, Holst, Anders G, Petropoulou, Evmorfia, Prins, Bram P, Jabbari, Javad, Torchio, Margherita, Berthet, Myriam, Mizusawa, Yuka, Yang, Tao, Nannenberg, Eline A, Dagradi, Federica, Weeke, Peter, Bastiaenan, Rachel, Ackerman, Michael J, Haunso, Stig, Leenhardt, Antoine, Kääb, Stefan, Probst, Vincent, Redon, Richard, Sharma, Sanjay, Wilde, Arthur, Tfelt-Hansen, Jacob, Schwartz, Peter, Roden, Dan M, Bezzina, Connie R, Olesen, Morten, Darbar, Dawood, Guicheney, Pascale, Crotti, Lia, Jamshidi, Yalda

“…Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. We aimed to identify genetic variation in BrS cases…”
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SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome by Probst, Vincent, Wilde, Arthur A.M, Barc, Julien, Sacher, Frederic, Babuty, Dominique, Mabo, Philippe, Mansourati, Jacques, Le Scouarnec, Solena, Kyndt, Florence, Le Caignec, Cedric, Guicheney, Pascale, Gouas, Laetitia, Albuisson, Juliette, Meregalli, Paola G, Le Marec, Herve, Tan, Hanno L, Schott, Jean-Jacques

“…SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome Vincent Probst, MD, PhD ; Arthur A.M. Wilde, MD, PhD ; Julien…”
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Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening by Roux-Buisson, Nathalie, MD, PhD, Gandjbakhch, Estelle, MD, PhD, Donal, Erwan, MD, PhD, Probst, Vincent, MD, PhD, Deharo, Jean-Claude, MD, Chevalier, Philippe, MD, PhD, Klug, Didier, MD, Mansencal, Nicolas, MD, PhD, Delacretaz, Etienne, MD, PhD, Cosnay, Pierre, MD, Scanu, Patrice, MD, Extramiana, Fabrice, MD, PhD, Keller, Dagmar, MD, Hidden-Lucet, Françoise, MD, Trapani, Jonathan, Fouret, Pierre, MD, PhD, Frank, Robert, MD, Fressart, Veronique, MD, PhD, Fauré, Julien, PhD, Lunardi, Joel, PharmD, PhD, Charron, Philippe, MD, PhD

“…Background Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic disease predominantly caused by desmosomal gene mutations that…”
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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects by Baudic, Manon, Murata, Hiroshige, Bosada, Fernanda M., Melo, Uirá Souto, Aizawa, Takanori, Lindenbaum, Pierre, van der Maarel, Lieve E., Guedon, Amaury, Baron, Estelle, Fremy, Enora, Foucal, Adrien, Ishikawa, Taisuke, Ushinohama, Hiroya, Jurgens, Sean J., Choi, Seung Hoan, Kyndt, Florence, Le Scouarnec, Solena, Wakker, Vincent, Thollet, Aurélie, Rajalu, Annabelle, Takaki, Tadashi, Ohno, Seiko, Shimizu, Wataru, Horie, Minoru, Kimura, Takeshi, Ellinor, Patrick T., Petit, Florence, Dulac, Yves, Bru, Paul, Boland, Anne, Deleuze, Jean-François, Redon, Richard, Le Marec, Hervé, Le Tourneau, Thierry, Gourraud, Jean-Baptiste, Yoshida, Yoshinori, Makita, Naomasa, Vieyres, Claude, Makiyama, Takeru, Mundlos, Stephan, Christoffels, Vincent M., Probst, Vincent, Schott, Jean-Jacques, Barc, Julien

“…While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for…”
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Dynamic changes in ventricular depolarization during exercise in patients with Brugada syndrome by Romero, Daniel, Behar, Nathalie, Petit, Bertrand, Probst, Vincent, Sacher, Frederic, Mabo, Philippe, Hernández, Alfredo I

“…Brugada syndrome (BS) is a genetic pathological condition associated with a high risk for sudden cardiac death (SCD). Ventricular depolarization disorders have…”
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Impact of clinical and genetic findings on the management of young patients with Brugada syndrome by Andorin, Antoine, MD, Behr, Elijah R., MA, MBBS, MD, FRCP, Denjoy, Isabelle, MD, Crotti, Lia, MD, PhD, Dagradi, Federica, MD, Jesel, Laurence, MD, Sacher, Fréderic, MD, Petit, Bertrand, MD, Mabo, Philippe, MD, Maltret, Alice, MD, Wong, Leonie C.H., MD, Degand, Bruno, MD, Bertaux, Géraldine, MD, Maury, Philippe, MD, Dulac, Yves, MD, Delasalle, Béatrice, MS, Gourraud, Jean-Baptiste, MD, PhD, Babuty, Dominique, MD, PhD, Blom, Nico A., MD, PhD, Schwartz, Peter J., MD, Wilde, Arthur A., MD, PhD, Probst, Vincent, MD, PhD

“…Background Brugada syndrome (BrS) is an arrhythmogenic disease associated with sudden cardiac death (SCD) that seldom manifests or is recognized in childhood…”
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