Search

Your search keyword '"Schwartz, Peter J."' showing total 1,908 results
Start Over Author "Schwartz, Peter J."
1,908 results on '"Schwartz, Peter J."'

2. Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

Author

O’Neill, Matthew J., Ng, Chai-Ann, Aizawa, Takanori, Sala, Luca, Bains, Sahej, Winbo, Annika, Ullah, Rizwan, Shen, Qianyi, Tan, Chek-Ying, Kozek, Krystian, Vanags, Loren R., Mitchell, Devyn W., Shen, Alex, Wada, Yuko, Kashiwa, Asami, Crotti, Lia, Dagradi, Federica, Musu, Giulia, Spazzolini, Carla, Neves, Raquel, Bos, J. Martijn, Giudicessi, John R., Bledsoe, Xavier, Gamazon, Eric R., Lancaster, Megan C., Glazer, Andrew M., Knollmann, Bjorn C., Roden, Dan M., Weile, Jochen, Roth, Frederick, Salem, Joe-Elie, Earle, Nikki, Stiles, Rachael, Agee, Taylor, Johnson, Christopher N., Horie, Minoru, Skinner, Jonathan R., Ackerman, Michael J., Schwartz, Peter J., Ohno, Seiko, Vandenberg, Jamie I., and Kroncke, Brett M.

Published
2024
Full Text
View/download PDF

4. An international multicenter cohort study on implantable cardioverter-defibrillators for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardia

Author

Lamba, Avani, Roston, Thomas M., Peltenburg, Puck J., Kallas, Dania, Franciosi, Sonia, Lieve, Krystien V.V., Kannankeril, Prince J., Horie, Minoru, Ohno, Seiko, Brugada, Ramon, Aiba, Takeshi, Fischbach, Peter, Knight, Linda, Till, Jan, Kwok, Sit-Yee, Probst, Vincent, Backhoff, David, LaPage, Martin J., Batra, Anjan S., Drago, Fabrizio, Haugaa, Kristina, Krahn, Andrew D., Robyns, Tomas, Swan, Heikki, Tavacova, Terezia, van der Werf, Christian, Atallah, Joseph, Borggrefe, Martin, Rudic, Boris, Sarquella-Brugada, Georgia, Chorin, Ehud, Hill, Allison, Kammeraad, Janneke, Kamp, Anna, Law, Ian, Perry, James, Roberts, Jason D., Tisma-Dupanovic, Svjetlana, Semsarian, Christopher, Skinner, Jonathan R., Tfelt-Hansen, Jacob, Denjoy, Isabelle, Leenhardt, Antoine, Schwartz, Peter J., Ackerman, Michael J., Blom, Nico A., Wilde, Arthur A.M., and Sanatani, Shubhayan

Published
2024
Full Text
View/download PDF

5. Therapeutic Efficacy of Mexiletine for Long QT Syndrome Type 2: Evidence From Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes, Transgenic Rabbits, and Patients

Author

Crotti, Lia, Neves, Raquel, Dagradi, Federica, Musu, Giulia, Giannetti, Federica, Bos, J. Martijn, Barbieri, Miriam, Cerea, Paolo, Giovenzana, Fulvio L.F., Torchio, Margherita, Mura, Manuela, Gnecchi, Massimiliano, Conte, Giulio, Auricchio, Angelo, Sala, Luca, Odening, Katja E., Ackerman, Michael J., and Schwartz, Peter J.

Published
2024
Full Text
View/download PDF

8. Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome

Author

Moore, Jeremy P, Gallotti, Roberto G, Shannon, Kevin M, Bos, J Martijn, Sadeghi, Elham, Strasburger, Janette F, Wakai, Ronald T, Horigome, Hitoshi, Clur, Sally-Ann, Hill, Allison C, Shah, Maully J, Behere, Shashank, Sarquella-Brugada, Georgia, Czosek, Richard, Etheridge, Susan P, Fischbach, Peter, Kannankeril, Prince J, Motonaga, Kara, Landstrom, Andrew P, Williams, Matthew, Patel, Akash, Dagradi, Federica, Tan, Reina B, Stephenson, Elizabeth, Krishna, Mani Ram, Miyake, Christina Y, Lee, Michelle E, Sanatani, Shubhayan, Balaji, Seshadri, Young, Ming-Lon, Siddiqui, Saad, Schwartz, Peter J, Shivkumar, Kalyanam, and Ackerman, Michael J

Subjects
Genetics, Cardiovascular, Pediatric, Infant Mortality, Clinical Research, Heart Disease, Perinatal Period - Conditions Originating in Perinatal Period, Aftercare, Electrocardiography, Fetus, Genotype, Humans, Infant, Newborn, Long QT Syndrome, Patient Discharge, Retrospective Studies, atrioventricular block, cardiac sympathetic denervation, fetal arrhythmia, fetus, genetic testing, implantable cardioverter-defibrillator, long QT syndrome, magnetocardiography, sudden cardiac death, torsades de pointes, Cardiorespiratory Medicine and Haematology, Clinical Sciences
Abstract

ObjectivesThis study sought to determine the relationship between long QT syndrome (LQTS) subtype (LTQ1, LTQ2, LTQ3) and postnatal cardiac events (CEs).BackgroundLQTS presenting with 2:1 atrioventricular block or torsades de pointes in the fetus and/or neonate has been associated with risk for major CEs, but overall outcomes and predictors remain unknown.MethodsA retrospective study involving 25 international centers evaluated the course of fetuses/newborns diagnosed with congenital LQTS and either 2:1 atrioventricular block or torsades de pointes. The primary outcomes were age at first CE after dismissal from the newborn hospitalization and death and/or cardiac transplantation during follow-up. CE was defined as aborted cardiac arrest, appropriate shock from implantable cardioverter-defibrillator, or sudden cardiac death.ResultsA total of 84 fetuses and/or neonates were identified with LQTS (12 as LQT1, 35 as LQT2, 37 as LQT3). Median gestational age at delivery was 37 weeks (interquartile range: 35 to 39 weeks) and age at hospital discharge was 3 weeks (interquartile range: 2 to 5 weeks). Fetal demise occurred in 2 and pre-discharge death in 1. Over a median of 5.2 years, there were 1 LQT1, 3 LQT2, and 23 LQT3 CEs (13 aborted cardiac arrests, 5 sudden cardiac deaths, and 9 appropriate shocks). One patient with LQT1 and 11 patients with LQT3 died or received cardiac transplant during follow-up. The only multivariate predictor of post-discharge CEs was LQT3 status (LQT3 vs. LQT2: hazard ratio: 8.4; 95% confidence interval: 2.6 to 38.9; 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

12. Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies

Author

Wu, Joseph C, Garg, Priyanka, Yoshida, Yoshinori, Yamanaka, Shinya, Gepstein, Lior, Hulot, Jean-Sébastien, Knollmann, Björn C, and Schwartz, Peter J

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Rare Diseases, Heart Disease, Stem Cell Research, Genetics, Human Genome, Cardiovascular, Orphan Drug, Stem Cell Research - Embryonic - Human, Regenerative Medicine, Clinical Research, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Induced Pluripotent Stem Cell, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Channelopathies, Clustered Regularly Interspaced Short Palindromic Repeats, Humans, Induced Pluripotent Stem Cells, Long QT Syndrome, Precision Medicine, genetic testing, induced pluripotent stem cells, long-QT syndrome, mutations, phenotype, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences
Abstract

Long-QT syndrome, a frequently fatal inherited arrhythmia syndrome caused by genetic variants (congenital) or drugs (acquired), affects 1 in 2000 people worldwide. Its sentinel event is often sudden cardiac death, which makes preclinical diagnosis by genetic testing potentially life-saving. Unfortunately, clinical experience with genetic testing has shown that it is difficult to correctly identify genetic variants as disease causing. These current deficiencies in accurately assigning pathogenicity led to the discovery of increasing numbers of rare variants classified as variant of uncertain significance. To overcome these challenges, new technologies such as clustered regularly interspaced short palindromic repeats (CRISPR) genome editing can be combined with human induced pluripotent stem cell-derived cardiomyocytes to provide a new approach to decipher pathogenicity of variants of uncertain significance and to better predict arrhythmia risk. To that end, the overarching goal of our network is to establish the utility of induced pluripotent stem cell-based platforms to solve major clinical problems associated with long-QT syndrome by determining how to (1) differentiate pathogenic mutations from background genetic noise, (2) assess existing and novel variants associated with congenital and acquired long-QT syndrome, and (3) provide genotype- and phenotype- guided risk stratification and pharmacological management of long-QT syndrome. To achieve these goals and to further advance the use of induced pluripotent stem cells in disease modeling and drug discovery, our team of investigators for this Leducq Foundation Transatlantic Networks of Excellence proposal will work together to (1) improve differentiation efficiency, cellular maturation, and lineage specificity, (2) develop new assays for high throughput cellular phenotyping, and (3) train young investigators to clinically implement patient-specific genetic modeling.

Published
2019

14. Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology

Author

Castelletti, Silvia, Zorzi, Alessandro, Ballardini, Enrico, Basso, Cristina, Biffi, Alessandro, Brancati, Francesco, Cavarretta, Elena, Crotti, Lia, Contursi, Maurizio, D'Aleo, Antonio, D'Ascenzi, Flavio, Delise, Pietro, Dello Russo, Antonio, Gazale, Giovanni, Mos, Lucio, Novelli, Valeria, Palamà, Zefferino, Palermi, Stefano, Palmieri, Vincenzo, Patrizi, Giampiero, Pelliccia, Antonio, Pilichou, Kalliopi, Romano, Silvio, Sarto, Patrizio, Schwartz, Peter J., Tiberi, Monica, Zeppilli, Paolo, Corrado, Domenico, and Sciarra, Luigi

Published
2022
Full Text
View/download PDF

15. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases

Author

Wilde, Arthur A.M., Semsarian, Christopher, Márquez, Manlio F., Sepehri Shamloo, Alireza, Ackerman, Michael J., Ashley, Euan A., Sternick, Eduardo Back, Barajas-Martinez, Héctor, Behr, Elijah R., Bezzina, Connie R., Breckpot, Jeroen, Charron, Philippe, Chockalingam, Priya, Crotti, Lia, Gollob, Michael H., Lubitz, Steven, Makita, Naomasa, Ohno, Seiko, Ortiz-Genga, Martín, Sacilotto, Luciana, Schulze-Bahr, Eric, Shimizu, Wataru, Sotoodehnia, Nona, Tadros, Rafik, Ware, James S., Winlaw, David S., Kaufman, Elizabeth S., Aiba, Takeshi, Bollmann, Andreas, Choi, Jong-Il, Dalal, Aarti, Darrieux, Francisco, Giudicessi, John, Guerchicoff, Mariana, Hong, Kui, Krahn, Andrew D., MacIntyre, Ciorsti, Mackall, Judith A., Mont, Lluís, Napolitano, Carlo, Ochoa, Juan Pablo, Peichl, Petr, Pereira, Alexandre C., Schwartz, Peter J., Skinner, Jon, Stellbrink, Christoph, Tfelt-Hansen, Jacob, and Deneke, Thomas

Published
2022
Full Text
View/download PDF

17. Harmonization of the definition of sudden cardiac death in longitudinal cohorts of the European Sudden Cardiac Arrest network – towards Prevention, Education, and New Effective Treatments (ESCAPE-NET) consortium

Author

Warming, Peder Emil, Ågesen, Frederik Nybye, Lynge, Thomas Hadberg, Jabbari, Reza, Smits, Robin L.A., van Valkengoed, Irene G.M., Welten, Sabrina J.G.C., van der Heijden, Amber A., Elders, Petra J., Blom, Marieke T., Jouven, Xavier, Schwartz, Peter J., Albert, Christine M., Beulens, Joline W., Rutters, Femke, Tan, Hanno L., Empana, Jean-Philippe, and Tfelt-Hansen, Jacob

Published
2022
Full Text
View/download PDF

20. 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
Full Text
View/download PDF

25. Long QT Syndrome

Author

Krahn, Andrew, Alqarawi, Wael, Schwartz, Peter J., Green, Martin, editor, Krahn, Andrew, editor, and Alqarawi, Wael, editor

Published
2020
Full Text
View/download PDF

27. 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
Full Text
View/download PDF

34. Long QT syndrome: importance of reassessing arrhythmic risk after treatment initiation.

Author

Dusi, Veronica, Dagradi, Federica, Spazzolini, Carla, Crotti, Lia, Cerea, Paolo, Giovenzana, Fulvio L F, Musu, Giulia, Pedrazzini, Matteo, Torchio, Margherita, and Schwartz, Peter J

Abstract

Background and Aims Risk scores are proposed for genetic arrhythmias. Having proposed in 2010 one such score (M-FACT) for the long QT syndrome (LQTS), this study aims to test whether adherence to its suggestions would be appropriate. Methods LQT1/2/3 and genotype-negative patients without aborted cardiac arrest (ACA) before diagnosis or cardiac events (CEs) below age 1 were included in the study, focusing on an M-FACT score ≥2 (intermediate/high risk), either at presentation (static) or during follow-up (dynamic), previously associated with 40% risk of implantable cardioverter defibrillator (ICD) shocks within 4 years. Results Overall, 946 patients (26 ± 19 years at diagnosis, 51% female) were included. Beta-blocker (βB) therapy in 94% of them reduced the rate of those with a QTc ≥500 ms from 18% to 12% (P <.001). During 7 ± 6 years of follow-up, none died; 4% had CEs, including 0.4% with ACA. A static M-FACT ≥2 was present in 110 patients, of whom 106 received βBs. In 49/106 patients with persistent dynamic M-FACT ≥2, further therapeutic optimization (left cardiac sympathetic denervation in 55%, mexiletine in 31%, and ICD at 27%) resulted in just 7 (14%) patients with CEs (no ACA), with no CEs in the remaining 57. Additionally, 32 patients developed a dynamic M-FACT ≥2 but, after therapeutic optimization, only 3 (9%) had C Es. According to an M-FACT score ≥2, a total of 142 patients should have received an ICD, but only 22/142 (15%) were implanted, with shocks reported in 3. Conclusions Beta-blockers often shorten QTc, thus changing risk scores and ICD indications for primary prevention. Yearly risk reassessment with therapy optimization leads to fewer ICD implants (3%) without increasing life-threatening events. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

35. Risk factors for primary ventricular fibrillation during a first myocardial infarction: Clinical findings from PREDESTINATION (PRimary vEntricular fibrillation and suDden dEath during firST myocardIal iNfArcTION)

Author

De Ferrari, Gaetano M., Dusi, Veronica, Ruffinazzi, Marta, Masiello, Lucrezia C., Ruffino, Enrico, Cacciavillani, Luisa, Noussan, Patrizia, Zacà, Valerio, Sanna, Tommaso, Lazzarotti, Marina L., Usmiani, Tullio, Gnecchi, Massimiliano, Parati, Gianfranco, Crotti, Lia, and Schwartz, Peter J.

Published
2020
Full Text
View/download PDF

36. Implantable loop recorders in patients with Brugada syndrome: the BruLoop study

Author

Bergonti, Marco, primary, Sacher, Frederic, additional, Arbelo, Elena, additional, Crotti, Lia, additional, Sabbag, Avi, additional, Casella, Michela, additional, Saenen, Johan, additional, Rossi, Andrea, additional, Monaco, Cinzia, additional, Pannone, Luigi, additional, Compagnucci, Paolo, additional, Russo, Vincenzo, additional, Heller, Eyal, additional, Santoro, Amato, additional, Berne, Paola, additional, Bisignani, Antonio, additional, Baldi, Enrico, additional, Van Leuven, Olivier, additional, Migliore, Federico, additional, Marcon, Lorenzo, additional, Dagradi, Federica, additional, Sfondrini, Irene, additional, Landra, Federico, additional, Comune, Angelo, additional, Cespón-Fernández, María, additional, Nesti, Martina, additional, Santoro, Francesco, additional, Magnocavallo, Michele, additional, Vicentini, Alessandro, additional, Conti, Sergio, additional, Ribatti, Valentina, additional, Brugada, Pedro, additional, de Asmundis, Carlo, additional, Brugada, Josep, additional, Tondo, Claudio, additional, Schwartz, Peter J, additional, Haissaguerre, Michel, additional, Auricchio, Angelo, additional, and Conte, Giulio, additional

Published
2024
Full Text
View/download PDF

38. Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping forKCNH2-LQTS Risk Stratification

Author

O’Neill, Matthew J., primary, Ng, Chai-Ann, additional, Aizawa, Takanori, additional, Sala, Luca, additional, Bains, Sahej, additional, Denjoy, Isabelle, additional, Winbo, Annika, additional, Ullah, Rizwan, additional, Shen, Qianyi, additional, Tan, Chek-Ying, additional, Kozek, Krystian, additional, Vanags, Loren R., additional, Mitchell, Devyn W., additional, Shen, Alex, additional, Wada, Yuko, additional, Kashiwa, Asami, additional, Crotti, Lia, additional, Dagradi, Federica, additional, Musu, Giulia, additional, Spazzolini, Carla, additional, Neves, Raquel, additional, Bos, J. Martijn, additional, Giudicessi, John R., additional, Bledsoe, Xavier, additional, Lancaster, Megan, additional, Glazer, Andrew M., additional, Roden, Dan M., additional, Leenhardt, Antoine, additional, Salem, Joe-Elie, additional, Earle, Nikki, additional, Stiles, Rachael, additional, Agee, Taylor, additional, Johnson, Christopher N., additional, Horie, Minoru, additional, Skinner, Jonathan, additional, Extramiana, Fabrice, additional, Ackerman, Michael J., additional, Schwartz, Peter J., additional, Ohno, Seiko, additional, Vandenberg, Jamie I., additional, and Kroncke, Brett M., additional

Published
2024
Full Text
View/download PDF

40. Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome

Author

Kaizer, Alexander M, primary, Winbo, Annika, additional, Clur, Sally-Ann B, additional, Etheridge, Susan P, additional, Ackerman, Michael J, additional, Horigome, Hitoshi, additional, Herberg, Ulrike, additional, Dagradi, Federica, additional, Spazzolini, Carla, additional, Killen, Stacy A S, additional, Wacker-Gussmann, Annette, additional, Wilde, Arthur A M, additional, Sinkovskaya, Elena, additional, Abuhamad, Alfred, additional, Torchio, Margherita, additional, Ng, Chai-Ann, additional, Rydberg, Annika, additional, Schwartz, Peter J, additional, and Cuneo, Bettina F, additional

Published
2023
Full Text
View/download PDF

43. 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
Full Text
View/download PDF

47. 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
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results