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2. Unexpected impairment of INa underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome

Author

Porta-Sánchez, Andreu, Mazzanti, Andrea, Tarifa, Carmen, Kukavica, Deni, Trancuccio, Alessandro, Mohsin, Muhammad, Zanfrini, Elisa, Perota, Andrea, Duchi, Roberto, Hernandez-Lopez, Kevin, Jáuregui-Abularach, Miguel Eduardo, Pergola, Valerio, Fernandez, Eugenio, Bongianino, Rossana, Tavazzani, Elisa, Gambelli, Patrick, Memmi, Mirella, Scacchi, Simone, Pavarino, Luca F., Franzone, Piero Colli, Lentini, Giovanni, Filgueiras-Rama, David, Galli, Cesare, Santiago, Demetrio Julián, and Priori, Silvia G.

Published
2023
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4. Genome Editing and Inherited Cardiac Arrhythmias

Author

Lalaguna, Laura, Ramos-Hernández, Laura, Priori, Silvia G., Lara-Pezzi, Enrique, Crusio, Wim E., Series Editor, Dong, Haidong, Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Steinlein, Ortrud, Series Editor, and Xiao, Junjie, Series Editor

Published
2023
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5. An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia

Author

Ng, Kevin, Titus, Erron W, Lieve, Krystien V, Roston, Thomas M, Mazzanti, Andrea, Deiter, Frederick H, Denjoy, Isabelle, Ingles, Jodie, Till, Jan, Robyns, Tomas, Connors, Sean P, Steinberg, Christian, Abrams, Dominic J, Pang, Benjamin, Scheinman, Melvin M, Bos, J Martijn, Duffett, Stephen A, van der Werf, Christian, Maltret, Alice, Green, Martin S, Rutberg, Julie, Balaji, Seshadri, Cadrin-Tourigny, Julia, Orland, Kate M, Knight, Linda M, Brateng, Caitlin, Wu, Jeremy, Tang, Anthony S, Skanes, Allan C, Manlucu, Jaimie, Healey, Jeff S, January, Craig T, Krahn, Andrew D, Collins, Kathryn K, Maginot, Kathleen R, Fischbach, Peter, Etheridge, Susan P, Eckhardt, Lee L, Hamilton, Robert M, Ackerman, Michael J, Noguer, Ferran Rosés I, Semsarian, Christopher, Jura, Natalia, Leenhardt, Antoine, Gollob, Michael H, Priori, Silvia G, Sanatani, Shubhayan, Wilde, Arthur AM, Deo, Rahul C, and Roberts, Jason D

Subjects
Clinical Research, Cardiovascular, Genetics, Heart Disease, Aetiology, 2.1 Biological and endogenous factors, Calsequestrin, Female, Heterozygote, Homozygote, Humans, Male, Mutation, Missense, Risk Factors, Tachycardia, Ventricular, arrhythmias, cardiac, catecholaminergic polymorphic ventricular tachycardia, death, sudden, genetics, arrhythmias, cardiac, death, sudden, cardiac, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundGenetic variants in calsequestrin-2 (CASQ2) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of CASQ2-CPVT was sought through an international multicenter collaboration.MethodsGenotype-phenotype segregation in CASQ2-CPVT families was assessed, and the impact of genotype on arrhythmic risk was evaluated using Cox regression models. Putative dominant CASQ2 missense variants and the established recessive CASQ2-p.R33Q variant were evaluated using oligomerization assays and their locations mapped to a recent CASQ2 filament structure.ResultsA total of 112 individuals, including 36 CPVT probands (24 homozygotes/compound heterozygotes and 12 heterozygotes) and 76 family members possessing at least 1 presumed pathogenic CASQ2 variant, were identified. Among CASQ2 homozygotes and compound heterozygotes, clinical penetrance was 97.1% and 26 of 34 (76.5%) individuals had experienced a potentially fatal arrhythmic event with a median age of onset of 7 years (95% CI, 6-11). Fifty-one of 66 CASQ2 heterozygous family members had undergone clinical evaluation, and 17 of 51 (33.3%) met diagnostic criteria for CPVT. Relative to CASQ2 heterozygotes, CASQ2 homozygote/compound heterozygote genotype status in probands was associated with a 3.2-fold (95% CI, 1.3-8.0; P=0.013) increased hazard of a composite of cardiac syncope, aborted cardiac arrest, and sudden cardiac death, but a 38.8-fold (95% CI, 5.6-269.1; P

Published
2020

9. An International Multicenter Evaluation of Type 5 Long QT Syndrome

Author

Roberts, Jason D, Asaki, S Yukiko, Mazzanti, Andrea, Bos, J Martijn, Tuleta, Izabela, Muir, Alison R, Crotti, Lia, Krahn, Andrew D, Kutyifa, Valentina, Shoemaker, M Benjamin, Johnsrude, Christopher L, Aiba, Takeshi, Marcondes, Luciana, Baban, Anwar, Udupa, Sharmila, Dechert, Brynn, Fischbach, Peter, Knight, Linda M, Vittinghoff, Eric, Kukavica, Deni, Stallmeyer, Birgit, Giudicessi, John R, Spazzolini, Carla, Shimamoto, Keiko, Tadros, Rafik, Cadrin-Tourigny, Julia, Duff, Henry J, Simpson, Christopher S, Roston, Thomas M, Wijeyeratne, Yanushi D, El Hajjaji, Imane, Yousif, Maisoon D, Gula, Lorne J, Leong-Sit, Peter, Chavali, Nikhil, Landstrom, Andrew P, Marcus, Gregory M, Dittmann, Sven, Wilde, Arthur AM, Behr, Elijah R, Tfelt-Hansen, Jacob, Scheinman, Melvin M, Perez, Marco V, Kaski, Juan Pablo, Gow, Robert M, Drago, Fabrizio, Aziz, Peter F, Abrams, Dominic J, Gollob, Michael H, Skinner, Jonathan R, Shimizu, Wataru, Kaufman, Elizabeth S, Roden, Dan M, Zareba, Wojciech, Schwartz, Peter J, Schulze-Bahr, Eric, Etheridge, Susan P, Priori, Silvia G, and Ackerman, Michael J

Subjects
Genetics, Cardiovascular, Clinical Trials and Supportive Activities, Heart Disease, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Death, Sudden, Cardiac, Electric Countershock, Electrocardiography, Female, Heart Arrest, Humans, Long QT Syndrome, Male, Middle Aged, Penetrance, Potassium Channels, Voltage-Gated, Registries, arrhythmia, genetics, long QT syndrome, penetrance, sudden cardiac death, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundInsight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration.MethodsPatients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc >460 ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death.ResultsA total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 Type 2 Jervell and Lange-Nielsen syndrome patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9±38.6 ms) compared with genotype positive family members (441.8±30.9 ms, P

Published
2020

11. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Author

Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico C., Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Veldink, Jan H., van den Berg, Leonard H., Van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Jr., Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, and Bezzina, Connie R.

Published
2022
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13. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bézieau, Stéphane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuño, Cristina Gil, 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, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M.Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G.A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., 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., Ackerman, Michael J., Brugada, Ramon, 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, Defaye, Pascal, Dupuis, Jean-Marc, Jesel, Laurence, Laurent, Gabriel, Maury, Philippe, Pasquie, Jean-Luc, Wiart, Francois, Behr, Elijah R., Barc, Julien, and Bezzina, Connie R.

Published
2021
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14. Characterization and natural history of patients with LMNA‐related dilated cardiomyopathy in the phase 3 REALM‐DCM trial.

Author

Garcia‐Pavia, Pablo, Lakdawala, Neal K., Sinagra, Gianfranco, Ripoll‐Vera, Tomas, Afshar, Kia, Priori, Silvia G., Ware, James S., Owens, Anjali, Li, Huihua, Angeli, Franca S., Elliott, Perry, MacRae, Calum A., and Judge, Daniel P.

Subjects
CARDIAC pacing, CLINICAL trials, VENTRICULAR fibrillation, VENTRICULAR tachycardia, VENTRICULAR ejection fraction
Abstract

Aims: LMNA‐related dilated cardiomyopathy (DCM) is a rare disease with an incompletely defined phenotype. The phase 3 REALM‐DCM trial evaluated a potential disease‐modifying therapy for LMNA‐related DCM but was terminated due to futility without safety concern. This study utilized pooled data from REALM‐DCM to descriptively characterize the phenotype and progression of LMNA‐related DCM in a contemporary cohort of patients using common heart failure (HF) measures. Methods: REALM‐DCM enrolled patients with stable LMNA‐related DCM, an implanted cardioverter defibrillator or cardiac resynchronization therapy defibrillator, and New York Heart Association (NYHA) Class II/III HF symptoms. Results: Between 2018 and 2022, 77 patients took part in REALM‐DCM. The median patient age was 53 years (range: 23–72), and 57% were male. Overall, 88% of patients had a pathogenic or likely pathogenic LMNA variant, and 12% had a variant of uncertain significance with a concordant phenotype. Among patients with confirmed sequencing, 55% had a missense variant. Atrial fibrillation was present in 60% of patients; 79% of all patients had NYHA Class II and 21% had NYHA Class III HF symptoms at baseline. Median (range) left ventricular ejection fraction (LVEF), 6 min walk test (6MWT) distance, Kansas City Cardiomyopathy Questionnaire Overall Summary (KCCQ‐OS) score and N‐terminal pro‐B‐type natriuretic peptide (NT‐proBNP) concentration at baseline were 42% (23–62), 403 m (173–481), 67 (18–97) and 866 pg/mL (57–5248), respectively. LVEF, 6MWT distance and KCCQ‐OS score were numerically lower in patients who had NYHA Class III versus II symptoms at baseline (LVEF: 38% vs. 43%; 6MWT distance: 326 vs. 413 m; and KCCQ‐OS score: 43 vs. 70), whereas NT‐proBNP concentration was higher (1216 vs. 799 pg/mL). Median follow‐up was 73 weeks (range: 0.4–218; 73 in NYHA Class II and 75 in NYHA Class III). Patients displayed variable change from baseline in 6MWT, KCCQ‐OS and NT‐proBNP values during follow‐up. Overall, 25% of patients experienced ventricular tachycardia, and 8% had ventricular fibrillation. Ten (13%) patients met the composite endpoint of worsening HF (adjudicated HF‐related hospitalization or urgent care visit) or all‐cause death; six had NYHA Class II and four had NYHA Class III at baseline. All‐cause mortality occurred in 6 (8%) patients; three had NYHA Class II and three had NYHA Class III symptoms at baseline. Conclusions: Findings confirm the significant morbidity and mortality associated with LMNA‐related DCM despite the standard of care management. Typical measures of HF, including 6MWT distance, KCCQ‐OS score and NT‐proBNP concentration, were variable but correlated with NYHA class. An unmet treatment need remains among patients with LMNA‐related DCM. NCT03439514. [ABSTRACT FROM AUTHOR]

Published
2024
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15. A Network of Macrophages Supports Mitochondrial Homeostasis in the Heart

Author

Nicolás-Ávila, José A., Lechuga-Vieco, Ana V., Esteban-Martínez, Lorena, Sánchez-Díaz, María, Díaz-García, Elena, Santiago, Demetrio J., Rubio-Ponce, Andrea, Li, Jackson LiangYao, Balachander, Akhila, Quintana, Juan A., Martínez-de-Mena, Raquel, Castejón-Vega, Beatriz, Pun-García, Andrés, Través, Paqui G., Bonzón-Kulichenko, Elena, García-Marqués, Fernando, Cussó, Lorena, A-González, Noelia, González-Guerra, Andrés, Roche-Molina, Marta, Martin-Salamanca, Sandra, Crainiciuc, Georgiana, Guzmán, Gabriela, Larrazabal, Jagoba, Herrero-Galán, Elías, Alegre-Cebollada, Jorge, Lemke, Greg, Rothlin, Carla V., Jimenez-Borreguero, Luis Jesús, Reyes, Guillermo, Castrillo, Antonio, Desco, Manuel, Muñoz-Cánoves, Pura, Ibáñez, Borja, Torres, Miguel, Ng, Lai Guan, Priori, Silvia G., Bueno, Héctor, Vázquez, Jesús, Cordero, Mario D., Bernal, Juan A., Enríquez, José A., and Hidalgo, Andrés

Published
2020
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20. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary

Author

Towbin, Jeffrey A., McKenna, William J., Abrams, Dominic J., Ackerman, Michael J., Calkins, Hugh, Darrieux, Francisco C.C., Daubert, James P., de Chillou, Christian, DePasquale, Eugene C., Desai, Milind Y., Estes, N.A. Mark, III, Hua, Wei, Indik, Julia H., Ingles, Jodie, James, Cynthia A., John, Roy M., Judge, Daniel P., Keegan, Roberto, Krahn, Andrew D., Link, Mark S., Marcus, Frank I., McLeod, Christopher J., Mestroni, Luisa, Priori, Silvia G., Saffitz, Jeffrey E., Sanatani, Shubhayan, Shimizu, Wataru, van Tintelen, J. Peter, Wilde, Arthur A.M., and Zareba, Wojciech

Published
2019
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21. Ethnic differences in patients with Brugada syndrome and arrhythmic events: New insights from Survey on Arrhythmic Events in Brugada Syndrome

Author

Milman, Anat, Andorin, Antoine, Postema, Pieter G., Gourraud, Jean-Baptiste, Sacher, Frederic, Mabo, Philippe, Kim, Sung-Hwan, Maeda, Shingo, Takahashi, Yoshihide, Kamakura, Tsukasa, Aiba, Takeshi, Conte, Giulio, Juang, Jimmy J.M., Leshem, Eran, Michowitz, Yoav, Fogelman, Rami, Hochstadt, Aviram, Mizusawa, Yuka, Giustetto, Carla, Arbelo, Elena, Huang, Zhengrong, Corrado, Domenico, Delise, Pietro, Allocca, Giuseppe, Takagi, Masahiko, Wijeyeratne, Yanushi D., Mazzanti, Andrea, Brugada, Ramon, Casado-Arroyo, Ruben, Champagne, Jean, Calo, Leonardo, Sarquella-Brugada, Georgia, Jespersen, Camilla H., Tfelt-Hansen, Jacob, Veltmann, Christian, Priori, Silvia G., Behr, Elijah R., Yan, Gan-Xin, Brugada, Josep, Gaita, Fiorenzo, Wilde, Arthur A.M., Brugada, Pedro, Kusano, Kengo F., Hirao, Kenzo, Nam, Gi-Byoung, Probst, Vincent, and Belhassen, Bernard

Published
2019
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25. Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.

Author

Scacchi, Simone, Pavarino, Luca F., Mazzanti, Andrea, Trancuccio, Alessandro, Priori, Silvia G., and Colli Franzone, Piero

Subjects
VENTRICULAR arrhythmia, LONG QT syndrome, ARRHYTHMIA, ACTION potentials, VENTRICULAR tachycardia, HETEROGENEITY, HETEROZYGOSITY
Abstract

Long QT Syndrome type 8 (LQT8) is a cardiac arrhythmic disorder associated with Timothy Syndrome, stemming from mutations in the CACNA1C gene, particularly the G406R mutation. While prior studies hint at CACNA1C mutations' role in ventricular arrhythmia genesis, the mechanisms, especially in G406R presence, are not fully understood. This computational study explores how the G406R mutation, causing increased transmural dispersion of repolarization, induces and sustains reentrant ventricular arrhythmias. Using three-dimensional numerical simulations on an idealized left-ventricular model, integrating the Bidomain equations with the ten Tusscher-Panfilov ionic model, we observe that G406R mutation with 11% and 50% heterozygosis significantly increases transmural dispersion of repolarization. During S1-S4 stimulation protocols, these gradients facilitate conduction blocks, triggering reentrant ventricular tachycardia. Sustained reentry pathways occur only with G406R mutation at 50% heterozygosis, while neglecting transmural heterogeneities of action potential duration prevents stable reentry, regardless of G406R mutation presence. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Gender differences in patients with Brugada syndrome and arrhythmic events: Data from a survey on arrhythmic events in 678 patients

Author

Milman, Anat, Gourraud, Jean-Baptiste, Andorin, Antoine, Postema, Pieter G., Sacher, Frederic, Mabo, Philippe, Conte, Giulio, Giustetto, Carla, Sarquella-Brugada, Georgia, Hochstadt, Aviram, Kim, Sung-Hwan, Juang, Jimmy J.M., Maeda, Shingo, Takahashi, Yoshihide, Kamakura, Tsukasa, Aiba, Takeshi, Leshem, Eran, Michowitz, Yoav, Rahkovich, Michael, Mizusawa, Yuka, Arbelo, Elena, Huang, Zhengrong, Denjoy, Isabelle, Wijeyeratne, Yanushi D., Napolitano, Carlo, Brugada, Ramon, Casado-Arroyo, Ruben, Champagne, Jean, Calo, Leonardo, Tfelt-Hansen, Jacob, Priori, Silvia G., Takagi, Masahiko, Veltmann, Christian, Delise, Pietro, Corrado, Domenico, 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, and Belhassen, Bernard

Published
2018
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28. Fever-related arrhythmic events in the multicenter Survey on Arrhythmic Events in Brugada Syndrome

Author

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, and Belhassen, Bernard

Published
2018
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30. Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS)

Author

Milman, Anat, Andorin, Antoine, Gourraud, Jean-Baptiste, Postema, Pieter G., Sacher, Frederic, Mabo, Philippe, Kim, Sung-Hwan, Juang, Jimmy J.M., Maeda, Shingo, Takahashi, Yoshihide, Kamakura, Tsukasa, Aiba, Takeshi, Conte, Giulio, Sarquella-Brugada, Georgia, Leshem, Eran, Rahkovich, Michael, Hochstadt, Aviram, Mizusawa, Yuka, Arbelo, Elena, Huang, Zhengrong, Denjoy, Isabelle, Giustetto, Carla, Wijeyeratne, Yanushi D., Napolitano, Carlo, Michowitz, Yoav, Brugada, Ramon, Casado-Arroyo, Ruben, Champagne, Jean, Calo, Leonardo, Tfelt-Hansen, Jacob, Priori, Silvia G., Takagi, Masahiko, Veltmann, Christian, Delise, Pietro, Corrado, Domenico, 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, and Belhassen, Bernard

Published
2018
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31. Management of Congenital Long-QT Syndrome: Commentary From the Experts

Author

Kaufman, Elizabeth S., Eckhardt, Lee L., Ackerman, Michael J., Aziz, Peter F., Behr, Elijah R., Cerrone, Marina, Chung, Mina K., Cutler, Michael J., Etheridge, Susan P., Krahn, Andrew D., Lubitz, Steven A., Perez, Marco V., Priori, Silvia G., Roberts, Jason D., Roden, Dan M., Schulze-Bahr, Eric, Schwartz, Peter J., Shimizu, Wataru, Shoemaker, M. Benjamin, Sy, Raymond W., Towbin, Jeffrey A., Viskin, Sami, A.M. Wilde, Arthur, and Zareba, Wojciech

Published
2021
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33. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Author

Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Veldink, Jan H., van den Berg, Leonard H., Van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Jr., Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, and Bezzina, Connie R.

Published
2022
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36. Recurrent Neural Network Architectures for Event Extraction from Italian Medical Reports

Author

Viani, Natalia, Miller, Timothy A., Dligach, Dmitriy, Bethard, Steven, Napolitano, Carlo, Priori, Silvia G., Bellazzi, Riccardo, Sacchi, Lucia, Savova, Guergana K., Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Weikum, Gerhard, Series editor, ten Teije, Annette, editor, Popow, Christian, editor, Holmes, John H., editor, and Sacchi, Lucia, editor

Published
2017
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39. The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome

Author

Hu, Dan, Li, Yang, Zhang, Jiancheng, Pfeiffer, Ryan, Gollob, Michael H., Healey, Jeff, Harrell, Daniel Toshio, Makita, Naomasa, Abe, Haruhiko, Sun, Yaxun, Guo, Jihong, Zhang, Li, Yan, Ganxin, Mah, Douglas, Walsh, Edward P., Leopold, Harris B., Giustetto, Carla, Gaita, Fiorenzo, Zienciuk-Krajka, Agnieszka, Mazzanti, Andrea, Priori, Silvia G., Antzelevitch, Charles, and Barajas-Martinez, Hector

Published
2017
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41. Association of Hydroxychloroquine With QTc Interval in Patients With COVID-19

Author

Mazzanti, Andrea, Briani, Martina, Kukavica, Deni, Bulian, Francesca, Marelli, Stefano, Trancuccio, Alessandro, Monteforte, Nicola, Manciulli, Tommaso, Morini, Massimo, Carlucci, Annalisa, Viggiani, Giacomo, Cannata, Francesco, Negri, Sara, Bloise, Raffaella, Memmi, Mirella, Gambelli, Patrick, Carbone, Andrea, Molteni, Martina, Bianchini, Raffaella, Salgarello, Rita, Sozzi, Silvia, De Cata, Pasquale, Fanfulla, Francesco, Ceriana, Piero, Locatelli, Carlo, Napolitano, Carlo, Chiovato, Luca, Tomasi, Luca, Stefanini, Giulio G., Condorelli, Gianluigi, and Priori, Silvia G.

Published
2020
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42. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Author

Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, 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, Lubitz, Steven A., 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, Lathrop, Mark, 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, Makita, Naomasa, 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, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W.T., and Bezzina, Connie R.

Published
2020
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43. Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Smith, Eric D., Lakdawala, Neal K., Papoutsidakis, Nikolaos, Aubert, Gregory, Mazzanti, Andrea, McCanta, Anthony C., Agarwal, Prachi P., Arscott, Patricia, Dellefave-Castillo, Lisa M., Vorovich, Esther E., Nutakki, Kavitha, Wilsbacher, Lisa D., Priori, Silvia G., Jacoby, Daniel L., McNally, Elizabeth M., and Helms, Adam S.

Published
2020
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45. RyR2 C-terminal Truncating Variants Identified in Patients with Arrhythmic Phenotypes Exert a Dominant Negative Effect through Formation of Wildtype-truncation Heteromers

Author

Tian, Shanshan, primary, Zhong, Xiaowei, additional, Wang, Hui, additional, Wei, Jinhong, additional, Guo, Wenting, additional, Wang, Ruiwu, additional, Estillore, John Paul, additional, Napolitano, Carlo, additional, Duff, Henry J, additional, Ilhan, Erkan, additional, Knight, Linda M., additional, Lloyd, Michael S., additional, Roberts, Jason D., additional, Priori, Silvia G., additional, and Chen, S.R. Wayne, additional

Published
2023
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49. Neuronal Na+ Channels Are Integral Components of Pro-Arrhythmic Na+/Ca2+ Signaling Nanodomain That Promotes Cardiac Arrhythmias During β-Adrenergic Stimulation

Author

Radwański, Przemysław B., Ho, Hsiang-Ting, Veeraraghavan, Rengasayee, Brunello, Lucia, Liu, Bin, Belevych, Andriy E., Unudurthi, Sathya D., Makara, Michael A., Priori, Silvia G., Volpe, Pompeo, Armoundas, Antonis A., Dillmann, Wolfgang H., Knollmann, Bjorn C., Mohler, Peter J., Hund, Thomas J., and Györke, Sándor

Published
2016
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