1,247 results on '"Brugada, J"'
Search Results
2. Cardiac magnetic resonance to evaluate 3D ventricular substrate depth: Prognostic implications for VT ablation approach
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Vazquez-Calvo, S, primary, Eulogio-Valenzuela, F, additional, Valerio Falzone, P, additional, Garre, P, additional, Guasch, E, additional, Porta-Sanchez, A, additional, Tolosana, J M, additional, Borras, R, additional, Arbelo, E, additional, Ortiz Perez, J T, additional, Prats, S, additional, Perea, R J, additional, Brugada, J, additional, Mont, L, additional, and Roca Luque, I, additional
- Published
- 2024
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3. Advanced practice nurse-coordinated same-day-discharge after atrial fibrillation ablation
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Espinosa, T, primary, Farrus, A, additional, Vazquez-Calvo, S, additional, Pujol, M, additional, Guichard, J B, additional, Cano, A, additional, Tolosana, J M, additional, Guasch, E, additional, Porta-Sanchez, A, additional, Arbelo, E, additional, Sitges, M, additional, Brugada, J, additional, Mont, L, additional, Roca-Luque, I, additional, and Althoff, T F, additional
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- 2024
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4. Cardiac magnetic resonance to predict appropriate therapies in secondary prevention
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Castrillo Golvano, L C, primary, Vazquez-Calvo, S, additional, Ventosa-Blazquez, O, additional, Thomsen, A F, additional, Forado, I, additional, Garre-Beng, P, additional, Borras, R, additional, Guasch, E, additional, Tolosana, J M, additional, Arbelo, E, additional, Porta-Sanchez, A, additional, Sitges, M, additional, Brugada, J, additional, Mont, L, additional, and Roca-Luque, I, additional
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- 2024
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5. Implantable Loop Recorders in patients with Brugada Syndrome: the BruLoop Study
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Bergonti, M, primary, Sacher, F S, additional, Arbelo, E A, additional, Crott, L, additional, Sabbag, A S, additional, Casella, M C, additional, Saenen, J S, additional, Sfondrini, I S, additional, De Asmundis, C D A, additional, Brugada, J B, additional, Tondo, C T, additional, Schwarz, P S, additional, Haissaguerre, M G, additional, Auricchio, A A, additional, and Conte, G C, additional
- Published
- 2024
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6. Non-invasive mapping of atrial slow-conduction areas and validation by endocardial isochronal mapping to predict atrial fibrillation recurrence after ablation
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Invers-Rubio, E, primary, Hernandez-Romero, I, additional, Reventos-Presmanes, J, additional, Borras, R, additional, Guasch, E, additional, Guichard, J B, additional, Tolosana, J M, additional, Porta-Sanchez, A, additional, Arbelo, E, additional, Brugada, J, additional, Guillem, M S, additional, Roca-Luque, I, additional, Climent, A M, additional, Mont, L, additional, and Althoff, T F, additional
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- 2024
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7. Post-ablation atrial arrhythmogenic channels predict atrial fibrillation recurrence - iatrogenic substrate revisited
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Regany-Closa, M, primary, Pellicer, B, additional, Invers-Rubio, E, additional, Prat, S, additional, Guichard, J B, additional, Guasch, E, additional, Porta-Sanchez, A, additional, Tolosana, J M, additional, Arbelo, E, additional, Brugada, J, additional, Roca-Luque, I, additional, Mont, L, additional, and Althoff, T F, additional
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- 2024
- Full Text
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8. Clinical risk factors associated with cardiac events in children with BrS-SCN5A
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Cruzalegui, J, primary, Martinez Barrios, E, additional, Greco, A, additional, Diez-Escute, N, additional, Cerralbo, P, additional, Cesar Diaz, S, additional, Zschaeck, I, additional, Chipa Ccasani, F, additional, Brugada, J, additional, Campuzano, O, additional, and Sarquella Brugada, G, additional
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- 2024
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9. Hypothermieinduzierte EKG-Veränderungen: charakteristisch, aber nicht spezifisch
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Michels, G., Ney, S., Hoffmann, F., Brugada, J., Pfister, R., Brockmeier, K., and Sultan, A.
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- 2018
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10. Evolution of deceleration zones during VT ablation and relation with cardiac magnetic resonance
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Vazquez-Calvo, S, primary, Garre, P, additional, Ferro, E, additional, Falzone, P, additional, Uribe, L, additional, Guichard, J B, additional, Ortiz-Perez, J T, additional, Guasch, E, additional, Arbelo, E, additional, Tolosana, J M, additional, Mont, L, additional, Porta-Sanchez, A, additional, Brugada, J, additional, and Roca-Luque, I, additional
- Published
- 2023
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11. Impact of cardiac magnetic resonance channels to localize deceleration zones during VT ablation
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Vazquez-Calvo, S, primary, Garre, P, additional, Ferro, E, additional, Guichard, J B, additional, Falzone, P, additional, Arbelo, E, additional, Tolosana, J M, additional, Guasch, E, additional, Mont, L, additional, Porta-Sanchez, A, additional, Brugada, J, additional, Ortiz-Perez, J T, additional, and Roca-Luque, I, additional
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- 2023
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12. Non-invasive assessment of pulmonary vein isolation durability using late gadolinium enhancement MRI
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Padilla, D, primary, Ferro, E, additional, Prat, S, additional, Doltra, A, additional, Perea, R J, additional, Tolosana, J M, additional, Arbelo, E, additional, Guasch, E, additional, Roca, I, additional, Sitges, M, additional, Brugada, J, additional, Mont, L, additional, and Althoff, T F, additional
- Published
- 2022
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13. Predictive value of late gadolinium enhancement MRI in patients with persistent atrial fibrillation. Multicentric validation of a standardised method
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Althoff, T F, primary, Eichenlaub, M, additional, Padilla, D, additional, Brugada, J, additional, Arentz, T, additional, Mont, L, additional, and Jadidi, A, additional
- Published
- 2022
- Full Text
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14. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
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Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R., Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., and Bezzina C. R.
- Abstract
Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes—rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10−18) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10−13). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. Conclusion: Large case–control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
- Published
- 2021
15. Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome
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Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A, Tanck, M, Bezzina, C, Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR., Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A, Tanck, M, Bezzina, C, Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, and Bezzina CR.
- Abstract
Background: 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 effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. Methods: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. Results: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P5×10-8) near NOS1AP, KCNQ1, and KLF12, and 1 missense variant in KCNE1(p.Asp85Asn) at the suggestive threshold (P10-6). Heritability analyses showed that ≈15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP 0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (rg=0.40; P=3.2×10-3). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS c
- Published
- 2020
16. 2019 ESC Guidelines for themanagement of patients with supraventricular tachycardia
- Author
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Brugada, J, Katritsis, D, Arbelo, E, Arribas, F, Bax, J, Blomstrom-Lundqvist, C, Calkins, H, Corrado, D, Deftereos, S, Diller, G, Gomez-Doblas, J, Gorenek, B, Grace, A, Ho, S, Kaski, J, Kuck, K, Lambiase, P, Sacher, F, Sarquella-Brugada, G, Suwalski, P, Zaza, A, De Potter, T, Sticherling, C, Aboyans, V, Basso, C, Bocchiardo, M, Budts, W, Delgado, V, Dobrev, D, Fitzsimons, D, Gevaert, S, Heidbuchel, H, Hindricks, G, Hlivak, P, Kanagaratnam, P, Katus, H, Kautzner, J, Kriebel, T, Lancellotti, P, Landmesser, U, Leclercq, C, Lewis, B, Lopatin, Y, Merkely, B, Paul, T, Pavlovic, N, Petersen, S, Petronio, A, Potpara, T, Roffi, M, Scherr, D, Shlyakhto, E, Simpson, I, Zeppenfeld, K, Windecker, S, Baigent, C, Collet, J, Dean, V, Gale, C, Grobbee, D, Halvorsen, S, Iung, B, Juni, P, Lettino, M, Mueller, C, Richter, D, Sousa-Uva, M, Touyz, R, Amara, W, Grigoryan, S, Podczeck-Schweighofer, A, Chasnoits, A, Vandekerckhove, Y, Sokolovich, S, Traykov, V, Skoric, B, Papasavvas, E, Riahi, S, Kampus, P, Parikka, H, Piot, O, Etsadashvili, K, Stellbrink, C, Manolis, A, Csanadi, Z, Gudmundsson, K, Erwin, J, Barsheshet, A, De Ponti, R, Abdrakhmanov, A, Jashari, H, Lunegova, O, Jubele, K, Refaat, M, Puodziukynas, A, Groben, L, Grosu, A, Ibtissam, F, Trines, S, Poposka, L, Haugaa, K, Kowalski, O, Cavaco, D, Dobreanu, D, Mikhaylov, E, Zavatta, M, Nebojsa, M, Ferreira-Gonzalez, I, Juhlin, T, Reichlin, T, Haouala, H, Akgun, T, Gupta, D, Brugada J., Katritsis D. G., Arbelo E., Arribas F., Bax J. J., Blomstrom-Lundqvist C., Calkins H., Corrado D., Deftereos S. G., Diller G. -P., Gomez-Doblas J. J., Gorenek B., Grace A., Ho S. Y., Kaski J. -C., Kuck K. -H., Lambiase P. D., Sacher F., Sarquella-Brugada G., Suwalski P., Zaza A., De Potter T., Sticherling C., Aboyans V., Basso C., Bocchiardo M., Budts W., Delgado V., Dobrev D., Fitzsimons D., Gevaert S., Heidbuchel H., Hindricks G., Hlivak P., Kanagaratnam P., Katus H., Kautzner J., Kriebel T., Lancellotti P., Landmesser U., Leclercq C., Lewis B., Lopatin Y., Merkely B., Paul T., Pavlovic N., Petersen S., Petronio A. S., Potpara T., Roffi M., Scherr D., Shlyakhto E., Simpson I. A., Zeppenfeld K., Windecker S., Baigent C., Collet J. -P., Dean V., Gale C. P., Grobbee D. E., Halvorsen S., Iung B., Juni P., Lettino M., Mueller C., Richter D. J., Sousa-Uva M., Touyz R. M., Amara W., Grigoryan S., Podczeck-Schweighofer A., Chasnoits A., Vandekerckhove Y., Sokolovich S., Traykov V., Skoric B., Papasavvas E., Riahi S., Kampus P., Parikka H., Piot O., Etsadashvili K., Stellbrink C., Manolis A. S., Csanadi Z., Gudmundsson K., Erwin J., Barsheshet A., De Ponti R., Abdrakhmanov A., Jashari H., Lunegova O., Jubele K., Refaat M. M., Puodziukynas A., Groben L., Grosu A., Ibtissam F., Trines S. A., Poposka L., Haugaa K. H., Kowalski O., Cavaco D., Dobreanu D., Mikhaylov E. N., Zavatta M., Nebojsa M., Ferreira-Gonzalez I., Juhlin T., Reichlin T., Haouala H., Akgun T., Gupta D., Brugada, J, Katritsis, D, Arbelo, E, Arribas, F, Bax, J, Blomstrom-Lundqvist, C, Calkins, H, Corrado, D, Deftereos, S, Diller, G, Gomez-Doblas, J, Gorenek, B, Grace, A, Ho, S, Kaski, J, Kuck, K, Lambiase, P, Sacher, F, Sarquella-Brugada, G, Suwalski, P, Zaza, A, De Potter, T, Sticherling, C, Aboyans, V, Basso, C, Bocchiardo, M, Budts, W, Delgado, V, Dobrev, D, Fitzsimons, D, Gevaert, S, Heidbuchel, H, Hindricks, G, Hlivak, P, Kanagaratnam, P, Katus, H, Kautzner, J, Kriebel, T, Lancellotti, P, Landmesser, U, Leclercq, C, Lewis, B, Lopatin, Y, Merkely, B, Paul, T, Pavlovic, N, Petersen, S, Petronio, A, Potpara, T, Roffi, M, Scherr, D, Shlyakhto, E, Simpson, I, Zeppenfeld, K, Windecker, S, Baigent, C, Collet, J, Dean, V, Gale, C, Grobbee, D, Halvorsen, S, Iung, B, Juni, P, Lettino, M, Mueller, C, Richter, D, Sousa-Uva, M, Touyz, R, Amara, W, Grigoryan, S, Podczeck-Schweighofer, A, Chasnoits, A, Vandekerckhove, Y, Sokolovich, S, Traykov, V, Skoric, B, Papasavvas, E, Riahi, S, Kampus, P, Parikka, H, Piot, O, Etsadashvili, K, Stellbrink, C, Manolis, A, Csanadi, Z, Gudmundsson, K, Erwin, J, Barsheshet, A, De Ponti, R, Abdrakhmanov, A, Jashari, H, Lunegova, O, Jubele, K, Refaat, M, Puodziukynas, A, Groben, L, Grosu, A, Ibtissam, F, Trines, S, Poposka, L, Haugaa, K, Kowalski, O, Cavaco, D, Dobreanu, D, Mikhaylov, E, Zavatta, M, Nebojsa, M, Ferreira-Gonzalez, I, Juhlin, T, Reichlin, T, Haouala, H, Akgun, T, Gupta, D, Brugada J., Katritsis D. G., Arbelo E., Arribas F., Bax J. J., Blomstrom-Lundqvist C., Calkins H., Corrado D., Deftereos S. G., Diller G. -P., Gomez-Doblas J. J., Gorenek B., Grace A., Ho S. Y., Kaski J. -C., Kuck K. -H., Lambiase P. D., Sacher F., Sarquella-Brugada G., Suwalski P., Zaza A., De Potter T., Sticherling C., Aboyans V., Basso C., Bocchiardo M., Budts W., Delgado V., Dobrev D., Fitzsimons D., Gevaert S., Heidbuchel H., Hindricks G., Hlivak P., Kanagaratnam P., Katus H., Kautzner J., Kriebel T., Lancellotti P., Landmesser U., Leclercq C., Lewis B., Lopatin Y., Merkely B., Paul T., Pavlovic N., Petersen S., Petronio A. S., Potpara T., Roffi M., Scherr D., Shlyakhto E., Simpson I. A., Zeppenfeld K., Windecker S., Baigent C., Collet J. -P., Dean V., Gale C. P., Grobbee D. E., Halvorsen S., Iung B., Juni P., Lettino M., Mueller C., Richter D. J., Sousa-Uva M., Touyz R. M., Amara W., Grigoryan S., Podczeck-Schweighofer A., Chasnoits A., Vandekerckhove Y., Sokolovich S., Traykov V., Skoric B., Papasavvas E., Riahi S., Kampus P., Parikka H., Piot O., Etsadashvili K., Stellbrink C., Manolis A. S., Csanadi Z., Gudmundsson K., Erwin J., Barsheshet A., De Ponti R., Abdrakhmanov A., Jashari H., Lunegova O., Jubele K., Refaat M. M., Puodziukynas A., Groben L., Grosu A., Ibtissam F., Trines S. A., Poposka L., Haugaa K. H., Kowalski O., Cavaco D., Dobreanu D., Mikhaylov E. N., Zavatta M., Nebojsa M., Ferreira-Gonzalez I., Juhlin T., Reichlin T., Haouala H., Akgun T., and Gupta D.
- Abstract
E' una "linea-guida" non esiste abstract.
- Published
- 2020
17. Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome
- Author
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Grassi, S., Campuzano, O., Coll, M., Cazzato, Francesca, Iglesias, A., Ausania, Francesco, Scarnicci, F., Sarquella-Brugada, G., Brugada, J., Arena, Vincenzo, Oliva, Antonio, Brugada, R., Cazzato F., Ausania F., Arena V. (ORCID:0000-0002-7562-223X), Oliva A. (ORCID:0000-0001-7120-616X), Grassi, S., Campuzano, O., Coll, M., Cazzato, Francesca, Iglesias, A., Ausania, Francesco, Scarnicci, F., Sarquella-Brugada, G., Brugada, J., Arena, Vincenzo, Oliva, Antonio, Brugada, R., Cazzato F., Ausania F., Arena V. (ORCID:0000-0002-7562-223X), and Oliva A. (ORCID:0000-0001-7120-616X)
- Abstract
Sudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated with inherited cardiac disorders can provide a highly probable explanation for the fatal event. We report the case of a 21-year-old obese woman who lost consciousness suddenly in a public place and was pronounced dead after hospital admission. Clinical autopsy showed an inconclusive gross examination, while in the histopathological analysis an eosinophilic inflammatory focus and interstitial fibrosis in the sino-atrial node were found. Molecular autopsy revealed an intronic variant in the KCNQ1 gene (c.683 + 5G > A), classified as likely pathogenic for long QT syndrome according to the guidelines provided by the American College of Medical Genetics and Genomics. Therefore, there were many anomalies that could have played a role in the causation of the sudden death, such as the extreme obesity, the cardiac anomalies and the KNCQ1 variant. This case depicts the difficult interpretation of rare cardiac structural abnormalities in subjects carrying rare variants responsible for inherited arrhythmic disorders and the challenge for the forensic pathologist to make causal inferences in the determinism of the unexpected decease.
- Published
- 2022
18. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)
- Author
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Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina
- Abstract
In the version of this article initially published, Federico Manevy’s name appeared with a middle initial in error. The name has been corrected in the HTML and PDF versions of the article.
- Published
- 2022
19. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
- Author
-
Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina
- Abstract
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings.
- Published
- 2022
20. Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes
- Author
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Martinez-barrios, E., Sarquella-brugada, G., Perez-serra, A., Fernandez-falgueras, A., Cesar, S., Coll, M., Puigmule, M., Iglesias, A., Alcalde, M., Vallverdu-prats, M., Ferrer-costa, C., Del Olmo, B., Pico, F., Lopez, L., Fiol, V., Cruzalegui, J., Hernandez, C., Arbelo, E., Grassi, S., Oliva, Antonio, Toro, R., Brugada, J., Brugada, R., Campuzano, O., Oliva A. (ORCID:0000-0001-7120-616X), Martinez-barrios, E., Sarquella-brugada, G., Perez-serra, A., Fernandez-falgueras, A., Cesar, S., Coll, M., Puigmule, M., Iglesias, A., Alcalde, M., Vallverdu-prats, M., Ferrer-costa, C., Del Olmo, B., Pico, F., Lopez, L., Fiol, V., Cruzalegui, J., Hernandez, C., Arbelo, E., Grassi, S., Oliva, Antonio, Toro, R., Brugada, J., Brugada, R., Campuzano, O., and Oliva A. (ORCID:0000-0001-7120-616X)
- Abstract
The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics. The proper interpretation of genetic data is critical for translation into the clinical setting. Notably, many TTN variants were classified before 2015, when the American College of Medical Genetics and Genomics (ACMG) published recommendations to accurately classify genetic variants. Our aim was to perform an exhaustive reanalysis of rare missense TTN variants that were classified before 2015, and that have ambiguous roles in inherited arrhythmogenic syndromes. Rare missense TTN variants classified before 2015 were updated following the ACMG recommendations and according to all the currently available data. Our cohort included 193 individuals definitively diagnosed with an inherited arrhythmogenic syndrome before 2015. Our analysis resulted in the reclassification of 36.8% of the missense variants from unknown to benign/likely benign. Of all the remaining variants, currently classified as of unknown significance, 38.3% showed a potential, but not confirmed, deleterious role. Most of these rare missense TTN variants with a suspected deleterious role were identified in patients diagnosed with hypertrophic cardiomyopathy. More than 35% of the rare missense TTN variants previously classified as ambiguous were reclassified as not deleterious, mainly because of improved population frequencies. Despite being inconclusive, almost 40% of the variants showed a potentially deleterious role in inherited arrhythmogenic syndromes. Our results highlight the importance of the periodical reclassification of rare missense TTN variants to improve genetic diagnoses and help increase the accuracy of personalized medicine.
- Published
- 2022
21. Clinical presentation and prognosis of left main coronary artery disease in the 1980s
- Author
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Atié, J., Brugada, P., Brugada, J., Smeets, J. L. R. M., Cruz, F. E., Roukens, M. R., Gorgels, A., Bär, F. W. H. M., Wellens, H. J. J., Smeets, J. L. R. M., editor, Doevendans, P. A., editor, Josephson, M. E., editor, Kirchhof, Ch., editor, and Vos, M. A., editor
- Published
- 2000
- Full Text
- View/download PDF
22. The Syndrome of Right Bundle Branch Block, ST Segment Elevation in V1 to V3 and Sudden Death. Are Asymptomatic Patients at High Risk for Sudden Death?
- Author
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Brugada, J., Brugada, P., Brugada, R., and Raviele, Antonio, editor
- Published
- 2000
- Full Text
- View/download PDF
23. How Common Is a Genetic Origin of Atrial Fibrillation?
- Author
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Brugada, R., Brugada, J., Roberts, R., and Raviele, Antonio, editor
- Published
- 2000
- Full Text
- View/download PDF
24. Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications
- Author
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Alcalde, M., Campuzano, O., Allegue, C., Torres, M., Arbelo, E., Partemi, S., Iglesias, A., Brugada, J., Oliva, A., Carracedo, A., and Brugada, R.
- Published
- 2015
- Full Text
- View/download PDF
25. Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
- Author
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Campuzano, O., Alcalde, M., Berne, P., Castro, V., Guzzo, G., Iglesias, A., Alonso-Pulpon, L., Garcia-Pavia, P., Brugada, J., and Brugada, R.
- Published
- 2012
- Full Text
- View/download PDF
26. 'Brugada Syndrome': A Structural Cardiomyopathy or a Functional Electrical Disease?
- Author
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Brugada, P., Brugada, J., Brugada, R., and Raviele, Antonio, editor
- Published
- 1998
- Full Text
- View/download PDF
27. Pharmacological Modulation of Reentrant Excitation in Experimental Models
- Author
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Boersma, L., Brugada, J., Allessie, M., Breithardt, Günter, editor, Borggrefe, Martin, editor, Camm, A. John, editor, Shenasa, Mohammad, editor, Haverkamp, Wilhelm, editor, and Hindricks, Gerhard, editor
- Published
- 1995
- Full Text
- View/download PDF
28. Ablation of frequent premature ventricular complex in an athlete
- Author
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Grazioli, G., Fernández-Armenta, J., Prat, S., Berruezo, A., Brugada, J., and Sitges, M.
- Published
- 2015
- Full Text
- View/download PDF
29. Cardiac Complications of Local Anesthetic Agents
- Author
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de la Coussaye, J. E., Brugada, J., Eledjam, J. J., and Vincent, Jean-Louis, editor
- Published
- 1992
- Full Text
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30. Rationale and design of the EU‐CERT‐ICD prospective study:comparative effectiveness of prophylactic ICD implantation
- Author
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Zabel, M. (Markus), Sticherling, C. (Christian), Willems, R. (Rik), Lubinski, A. (Andrzej), Bauer, A. (Axel), Bergau, L. (Leonard), Braunschweig, F. (Frieder), Brugada, J. (Josep), Brusich, S. (Sandro), Conen, D. (David), Cygankiewicz, I. (Iwona), Flevari, P. (Panagiota), Taborsky, M. (Milos), Hansen, J. (Jim), Hasenfuss, G. (Gerd), Hatala, R. (Robert), Huikuri, H. V. (Heikki V.), Iovev, S. (Svetoslav), Kaeaeb, S. (Stefan), Kaliska, G. (Gabriela), Kasprzak, J. D. (Jaroslaw D.), Luethje, L. (Lars), Malik, M. (Marek), Novotny, T. (Tomas), Pavlovic, N. (Nikola), Schmidt, G. (Georg), Shalganov, T. (Tchavdar), Sritharan, R. (Rajeeva), Schloegl, S. (Simon), Nossan, J. S. (Janko Szavits), Traykov, V. (Vassil), Tuinenburg, A. E. (Anton E.), Velchev, V. (Vasil), Vos, M. A. (Marc A.), Willich, S. N. (Stefan N.), Friede, T. (Tim), Svendsen, J. H. (Jesper Hastrup), Merkely, B. (Bela), Seegers, J. (J.), Munoz-Exposito, P. (P.), Tichelbacker, T. (T.), Kirovo, A. (A.), Sritharan, R. (R.), Joerss, K. (K.), Macken, J. (J.), Misdaq, M. (M.), Rudolph, K. (K.), Schmidt, G. (G.), Mueller, A. (A.), Dommasch, M. (M.), Sinnecker, D. (D.), Sinner, M. (M.), Bauer, A. (A.), Dissmann, R. (R.), Burmester, U. (U.), Behrens, S. (S.), Gregor, M. (M.), Stefanow, S. (S.), Rueb, N. (N.), Wolpert, C. (C.), Bimmel, D. (D.), Lieberz, C. (C.), Maier, L. (L.), Schwinger, R. (R.), Blaschke, F. (F.), Pieske, B. (B.), Groenefeld, G. (G.), Klein, G. (G.), Gardiwal, A. (A.), Merkely, B. (B.), Szeplaki, G. (G.), Perge, P. (P.), Nossan, J. S. (J. Szavits), Rotkvic, L. (L.), Pavlovic, N. (N.), Manola, S. (S.), Vinter, O. (O.), Benko, I. (I.), Brusic, S. (S.), Avdovic, E. (E.), Klasan, M. (M.), Bakotic, Z. (Z.), Anic, A. (A.), Lubinski, A. (A.), Kowalczyk, E. (E.), Kucejko, T. (T.), Czechowska, A. (A.), Wybor, K. (K.), Cygankiewicz, I. (I.), Ptaszynski, P. (P.), Kasprzak, J. (J.), Qavoq, H. (H.), Guzik, P. (P.), Krauze, T. (T.), Sterlinski, M. (M.), Hatala, R. (R.), Svetlosak, M. (M.), Kaliska, G. (G.), Martinek, J. (J.), Thamsborg, K. (K.), Hansen, J. (J.), Schloett-Hyldelund, I. M. (I. M.), Laage-Petersen, J. (J.), Willems, R. (R.), Vandenberk, B. (B.), van Soest, S. (S.), Traykov, V. (V.), Iovev, S. (S.), Shalganov, T. (T.), Sticherling, C. (C.), Conen, D. (D.), Giesebart, S. (S.), Novotny, T. (T.), Kozak, M. (M.), Taborsky, M. (M.), Galuszka, J. (J.), Tuinenburg, A. E. (A. E.), Wijers, S. (S.), Dunnink, A. (A.), Sprenkeler, D. (D.), Brugada, J. (J.), Arbelo, E. (E.), Trucco, E. (E.), Vidorreta, S. (S.), Huikuri, H. (H.), Kentta, T. (T.), Pelli, A. (A.), Huikuri, P. (P.), Koski, P. (P.), Braunschweig, F. (F.), Karlsson, H. (H.), Ersgaard, D. (D.), Platonov, P. (P.), Klingenheben, T. (T.), Scharfe, M. (M.), Reinhold, T. (T.), Cree, M. (M.), Hnatkova, K. (K.), Gerhardt, J. (J.), Rizas, K. (K.), Hamm, W. (W.), Roever, C. (C.), Harden, M. (M.), Kessel, B. (B.), Berg, A. (A.), Apel, S. (S.), Walker, F. (F.), Kirchhof, N. (N.), Goerlitz, A. (A.), Molitor, A. (A.), Heinrich, J. (J.), Annetzberger, S. (S.), Fuchs, B. (B.), Landwehr, A. (A.), Merk, A. (A.), Wilke, A. (A.), Hennecke, C. (C.), Mansch, R. (R.), Zabel, M. (Markus), Sticherling, C. (Christian), Willems, R. (Rik), Lubinski, A. (Andrzej), Bauer, A. (Axel), Bergau, L. (Leonard), Braunschweig, F. (Frieder), Brugada, J. (Josep), Brusich, S. (Sandro), Conen, D. (David), Cygankiewicz, I. (Iwona), Flevari, P. (Panagiota), Taborsky, M. (Milos), Hansen, J. (Jim), Hasenfuss, G. (Gerd), Hatala, R. (Robert), Huikuri, H. V. (Heikki V.), Iovev, S. (Svetoslav), Kaeaeb, S. (Stefan), Kaliska, G. (Gabriela), Kasprzak, J. D. (Jaroslaw D.), Luethje, L. (Lars), Malik, M. (Marek), Novotny, T. (Tomas), Pavlovic, N. (Nikola), Schmidt, G. (Georg), Shalganov, T. (Tchavdar), Sritharan, R. (Rajeeva), Schloegl, S. (Simon), Nossan, J. S. (Janko Szavits), Traykov, V. (Vassil), Tuinenburg, A. E. (Anton E.), Velchev, V. (Vasil), Vos, M. A. (Marc A.), Willich, S. N. (Stefan N.), Friede, T. (Tim), Svendsen, J. H. (Jesper Hastrup), Merkely, B. (Bela), Seegers, J. (J.), Munoz-Exposito, P. (P.), Tichelbacker, T. (T.), Kirovo, A. (A.), Sritharan, R. (R.), Joerss, K. (K.), Macken, J. (J.), Misdaq, M. (M.), Rudolph, K. (K.), Schmidt, G. (G.), Mueller, A. (A.), Dommasch, M. (M.), Sinnecker, D. (D.), Sinner, M. (M.), Bauer, A. (A.), Dissmann, R. (R.), Burmester, U. (U.), Behrens, S. (S.), Gregor, M. (M.), Stefanow, S. (S.), Rueb, N. (N.), Wolpert, C. (C.), Bimmel, D. (D.), Lieberz, C. (C.), Maier, L. (L.), Schwinger, R. (R.), Blaschke, F. (F.), Pieske, B. (B.), Groenefeld, G. (G.), Klein, G. (G.), Gardiwal, A. (A.), Merkely, B. (B.), Szeplaki, G. (G.), Perge, P. (P.), Nossan, J. S. (J. Szavits), Rotkvic, L. (L.), Pavlovic, N. (N.), Manola, S. (S.), Vinter, O. (O.), Benko, I. (I.), Brusic, S. (S.), Avdovic, E. (E.), Klasan, M. (M.), Bakotic, Z. (Z.), Anic, A. (A.), Lubinski, A. (A.), Kowalczyk, E. (E.), Kucejko, T. (T.), Czechowska, A. (A.), Wybor, K. (K.), Cygankiewicz, I. (I.), Ptaszynski, P. (P.), Kasprzak, J. (J.), Qavoq, H. (H.), Guzik, P. (P.), Krauze, T. (T.), Sterlinski, M. (M.), Hatala, R. (R.), Svetlosak, M. (M.), Kaliska, G. (G.), Martinek, J. (J.), Thamsborg, K. (K.), Hansen, J. (J.), Schloett-Hyldelund, I. M. (I. M.), Laage-Petersen, J. (J.), Willems, R. (R.), Vandenberk, B. (B.), van Soest, S. (S.), Traykov, V. (V.), Iovev, S. (S.), Shalganov, T. (T.), Sticherling, C. (C.), Conen, D. (D.), Giesebart, S. (S.), Novotny, T. (T.), Kozak, M. (M.), Taborsky, M. (M.), Galuszka, J. (J.), Tuinenburg, A. E. (A. E.), Wijers, S. (S.), Dunnink, A. (A.), Sprenkeler, D. (D.), Brugada, J. (J.), Arbelo, E. (E.), Trucco, E. (E.), Vidorreta, S. (S.), Huikuri, H. (H.), Kentta, T. (T.), Pelli, A. (A.), Huikuri, P. (P.), Koski, P. (P.), Braunschweig, F. (F.), Karlsson, H. (H.), Ersgaard, D. (D.), Platonov, P. (P.), Klingenheben, T. (T.), Scharfe, M. (M.), Reinhold, T. (T.), Cree, M. (M.), Hnatkova, K. (K.), Gerhardt, J. (J.), Rizas, K. (K.), Hamm, W. (W.), Roever, C. (C.), Harden, M. (M.), Kessel, B. (B.), Berg, A. (A.), Apel, S. (S.), Walker, F. (F.), Kirchhof, N. (N.), Goerlitz, A. (A.), Molitor, A. (A.), Heinrich, J. (J.), Annetzberger, S. (S.), Fuchs, B. (B.), Landwehr, A. (A.), Merk, A. (A.), Wilke, A. (A.), Hennecke, C. (C.), and Mansch, R. (R.)
- Abstract
Aims: The clinical effectiveness of primary prevention implantable cardioverter defibrillator (ICD) therapy is under debate. The EUropean Comparative Effectiveness Research to Assess the Use of Primary ProphylacTic Implantable Cardioverter Defibrillators (EU‐CERT‐ICD) aims to assess its current clinical value. Methods and results: The EU‐CERT‐ICD is a prospective investigator‐initiated non‐randomized, controlled, multicentre observational cohort study performed in 44 centres across 15 European Union countries. We will recruit 2250 patients with ischaemic or dilated cardiomyopathy and a guideline indication for primary prophylactic ICD implantation. This sample will include 1500 patients at their first ICD implantation and 750 patients who did not receive a primary prevention ICD despite having an indication for it (non‐randomized control group). The primary endpoint is all‐cause mortality; the co‐primary endpoint in ICD patients is time to first appropriate shock. Secondary endpoints include sudden cardiac death, first inappropriate shock, any ICD shock, arrhythmogenic syncope, revision procedures, quality of life, and cost‐effectiveness. At baseline (and prior to ICD implantation if applicable), all patients undergo 12‐lead electrocardiogram (ECG) and Holter ECG analysis using multiple advanced methods for risk stratification as well as detailed documentation of clinical characteristics and laboratory values. Genetic biobanking is also organized. As of August 2018, baseline data of 2265 patients are complete. All subjects will be followed for up to 4.5 years. Conclusions: The EU‐CERT‐ICD study will provide a necessary update about clinical effectiveness of primary prophylactic ICD implantation. This study also aims for improved risk stratification and patient selection using clinical and ECG risk markers.
- Published
- 2019
31. 2019 ESC Guidelines for themanagement of patients with supraventricular tachycardia
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Brugada, J., Katritsis, D. G., Arbelo, E., Arribas, F., Bax, J. J., Blomstrom-Lundqvist, C., Calkins, H., Corrado, D., Deftereos, S. G., Diller, G. -P., Gomez-Doblas, J. J., Gorenek, B., Grace, A., S. Y., Ho, Kaski, J. -C., Kuck, K. -H., Lambiase, P. D., Sacher, F., Sarquella-Brugada, G., Suwalski, P., Zaza, A., De Potter, T., Sticherling, C., Aboyans, V., Basso, C., Bocchiardo, M., Budts, W., Delgado, V., Dobrev, D., Fitzsimons, D., Gevaert, S., Heidbuchel, H., Hindricks, G., Hlivak, P., Kanagaratnam, P., Katus, H., Kautzner, J., Kriebel, T., Lancellotti, P., Landmesser, U., Leclercq, C., Lewis, B., Lopatin, Y., Merkely, B., Paul, T., Pavlovic, N., Petersen, S., Petronio, A. S., Potpara, T., Roffi, M., Scherr, D., Shlyakhto, E., Simpson, I. A., Zeppenfeld, K., Windecker, S., Baigent, C., Collet, J. -P., Dean, V., Gale, C. P., Grobbee, D. E., Halvorsen, S., Iung, B., Juni, P., Lettino, M., Mueller, C., Richter, D. J., Sousa-Uva, M., Touyz, R. M., Amara, W., Grigoryan, S., Podczeck-Schweighofer, A., Chasnoits, A., Vandekerckhove, Y., Sokolovich, S., Traykov, V., Skoric, B., Papasavvas, E., Riahi, S., Kampus, P., Parikka, H., Piot, O., Etsadashvili, K., Stellbrink, C., Manolis, A. S., Csanadi, Z., Gudmundsson, K., Erwin, J., Barsheshet, A., De Ponti, R., Abdrakhmanov, A., Jashari, H., Lunegova, O., Jubele, K., Refaat, M. M., Puodziukynas, A., Groben, L., Grosu, A., Ibtissam, F., Trines, S. A., Poposka, L., Haugaa, K. H., Kowalski, O., Cavaco, D., Dobreanu, D., Mikhaylov, E. N., Zavatta, M., Nebojsa, M., Ferreira-Gonzalez, I., Juhlin, T., Reichlin, T., Haouala, H., Akgun, T., Gupta, D., Brugada, J, Katritsis, D, Arbelo, E, Arribas, F, Bax, J, Blomstrom-Lundqvist, C, Calkins, H, Corrado, D, Deftereos, S, Diller, G, Gomez-Doblas, J, Gorenek, B, Grace, A, Ho, S, Kaski, J, Kuck, K, Lambiase, P, Sacher, F, Sarquella-Brugada, G, Suwalski, P, Zaza, A, De Potter, T, Sticherling, C, Aboyans, V, Basso, C, Bocchiardo, M, Budts, W, Delgado, V, Dobrev, D, Fitzsimons, D, Gevaert, S, Heidbuchel, H, Hindricks, G, Hlivak, P, Kanagaratnam, P, Katus, H, Kautzner, J, Kriebel, T, Lancellotti, P, Landmesser, U, Leclercq, C, Lewis, B, Lopatin, Y, Merkely, B, Paul, T, Pavlovic, N, Petersen, S, Petronio, A, Potpara, T, Roffi, M, Scherr, D, Shlyakhto, E, Simpson, I, Zeppenfeld, K, Windecker, S, Baigent, C, Collet, J, Dean, V, Gale, C, Grobbee, D, Halvorsen, S, Iung, B, Juni, P, Lettino, M, Mueller, C, Richter, D, Sousa-Uva, M, Touyz, R, Amara, W, Grigoryan, S, Podczeck-Schweighofer, A, Chasnoits, A, Vandekerckhove, Y, Sokolovich, S, Traykov, V, Skoric, B, Papasavvas, E, Riahi, S, Kampus, P, Parikka, H, Piot, O, Etsadashvili, K, Stellbrink, C, Manolis, A, Csanadi, Z, Gudmundsson, K, Erwin, J, Barsheshet, A, De Ponti, R, Abdrakhmanov, A, Jashari, H, Lunegova, O, Jubele, K, Refaat, M, Puodziukynas, A, Groben, L, Grosu, A, Ibtissam, F, Trines, S, Poposka, L, Haugaa, K, Kowalski, O, Cavaco, D, Dobreanu, D, Mikhaylov, E, Zavatta, M, Nebojsa, M, Ferreira-Gonzalez, I, Juhlin, T, Reichlin, T, Haouala, H, Akgun, T, and Gupta, D
- Subjects
Focal ,Supraventricular ,Atrioventricular ,Nodal ,Guidelines ,Ablation ,Flutter ,Guideline ,Tachycardia ,Re-entrant ,Arrhythmia ,Junctional ,Macrore-entrant ,Pre-excitation - Abstract
E' una "linea-guida" non esiste abstract.
- Published
- 2020
32. Young Investigator Award session – Basic Science: Thursday 4 December 2014, 10: 00–11: 00Location: Agora
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Sanz, M, Sitges, M, Bijnens, B, Rubies, C, Batlle, M, Mont, LL, Brugada, J, and Guasch, E
- Published
- 2014
33. Rare variants associated with arrhythmogenic cardiomyopathy: Reclassification five years later
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Vallverdu-Prats, M., Alcalde, M., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Fernandez-Falgueras, A., Coll, M., Perez-Serra, A., Puigmule, M., Iglesias, A., Fiol, V., Ferrer-Costa, C., Olmo, B., Pico, F., Lopez, L., Jorda, P., Garcia-alvarez, A., Llano, C. T., Toro, R., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., Oliva A. (ORCID:0000-0001-7120-616X), Vallverdu-Prats, M., Alcalde, M., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Fernandez-Falgueras, A., Coll, M., Perez-Serra, A., Puigmule, M., Iglesias, A., Fiol, V., Ferrer-Costa, C., Olmo, B., Pico, F., Lopez, L., Jorda, P., Garcia-alvarez, A., Llano, C. T., Toro, R., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., and Oliva A. (ORCID:0000-0001-7120-616X)
- Abstract
Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefined. Five years ago, 39 rare ACM-related variants were identified in patients with features of cardiomyopathy. These variants were classified following the American College of Medical Genetics and Genomics’ guidelines. In the present study, we reevaluated these rare variants including novel available data. All cases carried one rare variant classified as being of ambiguous significance (82.05%) or likely pathogenic (17.95%) in 2016. In our comprehensive reanalysis, the classification of 30.77% of these variants changed, mainly due to updated global frequencies. As in 2016, nowadays most variants were classified as having an uncertain role (64.1%), but the proportion of variants with an uncertain role was significantly decreased (17.95%). The percentage of rare variants classified as potentially del-eterious increased from 17.95% to 23.07%. Moreover, 83.33% of reclassified variants gained cer-tainty. We propose that periodic genetic reanalysis of all rare variants associated with arrhythmo-genic cardiomyopathy should be undertaken at least once every five years. Defining the roles of rare variants may help clinicians obtain a definite diagnosis.
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- 2021
34. Discrete element modelling of geomechanical behaviour of methane hydrate soils with pore-filling hydrate distribution
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Brugada, J., Cheng, Y. P., Soga, K., and Santamarina, J. C.
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- 2010
- Full Text
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35. Comparison of efficacy and safety of intravenous ajmaline vs. intravenous flecainide for the diagnosis of brugada syndrome among first-degree family members
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Berne, P., Porres, J.M., Fernandez-Lozano, I., Arnaiz, J.A., Mont, L., Berruezo, A., Brugada, R., and Brugada, J.
- Published
- 2011
36. Conversion to sinus rhythm is not a predictor of efficacy of the ablation of persistent and long-standing atrial fibrillation
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Arbelo, E., Calvo, N., Tamborero, D., Andreu, D., Borras, R., Berruezo, A., Brugada, J., and Mont, L.
- Published
- 2011
37. iCARDEA: an intelligent platform for personalized remote monitoring of the cardiac patients with electronic implantable devices
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Arbelo, E., Dogac, A., Luepkes, C., Ploessnig, M., Chronaki, C., Hinterbuchner, L., Guillen, A., and Brugada, J.
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- 2011
38. First line endocardial and epicardial scar dechanneling in arrhythmogenic right ventricular cardiomyopathy
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Berruezo, A., Fernandez-Armenta, J., Mont, L.L., Zeljko, H., Andreu, D., Herzcku, C., Boussy, T., and Brugada, J.
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- 2011
39. Intermacs level 2-3 class IV patients have worse outcome after cardiac resynchronization therapy than stable class IV patients
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Castel, M.A., Tolosana, J.M., Perez-Villa, F., Mont, L., Sitges, M., Vidal, B., and Brugada, J.
- Published
- 2011
40. Identification of cardiac resynchronization therapy candidates needing a backup defibrillator on the basis of myocardial scar characterization
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Fernandez-Armenta, J., Berruezo, A., Mont, L.L., Sitges, M., Andreu, D., Ortiz-Perez, J., Caralt, T., and Brugada, J.
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- 2011
41. Improved left ventricular mechanics leads to reverse remodelling and enhaced systolic function in patients with cardiac resynchronization therapy
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Doltra Magarolas, A., Bijnens, B., Silva, E., Penela, D., Mont, L., Tolosana, J.M., Brugada, J., and Sitges, M.
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- 2011
42. High risk of bleeding complications in cardiac device implantation under dual antiplatelet therapy
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Calvo, N., Tolosana, J.M., Fernandez-Armenta, J., Matas, M., Barbarin, M.C., Berruezo, A., Brugada, J., and Mont, L.
- Published
- 2011
43. Incidence and outcomes of repeat procedures after atrial fibrillation catheter ablation: a 7-year experience
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Calvo, N., Nadal, M., Andreu, D., Tamborero, D., Diaz, F.E., Berruezo, A., Brugada, J., and Mont, L.
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- 2011
44. Ablations in neonates: simplicity is possible
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Sarquella-Brugada, G., Prada, F., and Brugada, J.
- Published
- 2011
45. Real time integration of 3D electroanatomic maps and magnetic resonance scar characterization into the navigation system to guide ventricular tachycardia ablation
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Andreu, D., Berruezo, A., Ortiz, J.T., Silva, E., Mont, L., De Caralt, T.M., Fernandez-Armenta, J., and Brugada, J.
- Published
- 2011
46. Electrocardiographic versus echocardiographic optimization of the interventricular pacing delay in patients undergoing cardiac resynchronization therapy
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Arbelo, E., Tamborero, D., Vidal, B., Tolosana, J.M., Sitges, M., Matas, M., Brugada, J., and Mont, L.
- Published
- 2011
47. The sensitivity of SonR based timings to AV delay changes
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Mont, L., Porres, J.M., Alzueta, J., Beiras, X., Fernandez-Lozano, I., Macias, A., Ruiz, R., and Brugada, J.
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- 2011
48. Septal flash predicts cardiac resynchronization therapy response in patients with permanent atrial fibrillation
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Gabrielli, L., Marincheva, G., Bijnens, B., Doltra, A., Tolosana, J. M., Borràs, R., Castel, M. A., Berruezo, A., Brugada, J., Mont, L., and Sitges, M.
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- 2014
- Full Text
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49. P111SCN1Bb: a new susceptibly gene underlying LQT syndrome
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Riuro, H, Campuzano, O, Beltran-Alvarez, P, Arbelo, E, Iglesias, A, Brugada, J, Perez, GJ, Scornik, F, and Brugada, R
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- 2014
- Full Text
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50. Optimum timing to assess ablation lesions with Late Gadolinium Enhancement MRl
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Althoff, TF, primary, Garre, P, additional, Caixal, G, additional, Prat, S, additional, Perea, J, additional, Tolosana, JM, additional, Arbelo, E, additional, Guasch, E, additional, Roca, I, additional, Sitges, M, additional, Brugada, J, additional, and Mont, L, additional
- Published
- 2021
- Full Text
- View/download PDF
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