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

Author: 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

2. Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome

Author: 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

3. 2019 ESC Guidelines for themanagement of patients with supraventricular tachycardia

Author: 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

4. Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome

Author: 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

5. 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: 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 &amp, 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 &amp, 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

6. 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 &amp, 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 &amp, 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

7. Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

Author: 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

8. Rationale and design of the EU‐CERT‐ICD prospective study:comparative effectiveness of prophylactic ICD implantation

Author: 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

9. Rare variants associated with arrhythmogenic cardiomyopathy: Reclassification five years later

Author: 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.
Published: 2021

10. Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

Author: Postema, P.G., Schwartz, P.J., Arbelo, E., Bannenberg, W.J., Behr, E.R., Belhassen, B., Brugada, J., Brugada, P., Camm, A. John, Casado-Arroyo, R., Hoen, E. t, Hollak, C.E., Kaab, S., Lambiase, P.D., Leenhardt, A., Priori, S.G., Probst, V., Stunnenberg, B.C., Tfelt-Hansen, J., Engelen, B.G.M. van, Veltmann, C., Viskin, S., Wilde, A.A., Postema, P.G., Schwartz, P.J., Arbelo, E., Bannenberg, W.J., Behr, E.R., Belhassen, B., Brugada, J., Brugada, P., Camm, A. John, Casado-Arroyo, R., Hoen, E. t, Hollak, C.E., Kaab, S., Lambiase, P.D., Leenhardt, A., Priori, S.G., Probst, V., Stunnenberg, B.C., Tfelt-Hansen, J., Engelen, B.G.M. van, Veltmann, C., Viskin, S., and Wilde, A.A.
Abstract: Contains fulltext : 218857.pdf (Publisher’s version ) (Closed access)
Published: 2020

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

Author: Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., Schwartz, P.J., Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., and Schwartz, P.J.
Abstract: Contains fulltext : 230155.pdf (Publisher’s version ) (Open Access)
Published: 2020

12. Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

Author: Postema, P.G., Schwartz, P.J., Arbelo, E., Bannenberg, W.J., Behr, E.R., Belhassen, B., Brugada, J., Brugada, P., Camm, A. John, Casado-Arroyo, R., Hoen, E. t, Hollak, C.E., Kaab, S., Lambiase, P.D., Leenhardt, A., Priori, S.G., Probst, V., Stunnenberg, B.C., Tfelt-Hansen, J., Engelen, B.G.M. van, Veltmann, C., Viskin, S., Wilde, A.A., Postema, P.G., Schwartz, P.J., Arbelo, E., Bannenberg, W.J., Behr, E.R., Belhassen, B., Brugada, J., Brugada, P., Camm, A. John, Casado-Arroyo, R., Hoen, E. t, Hollak, C.E., Kaab, S., Lambiase, P.D., Leenhardt, A., Priori, S.G., Probst, V., Stunnenberg, B.C., Tfelt-Hansen, J., Engelen, B.G.M. van, Veltmann, C., Viskin, S., and Wilde, A.A.
Abstract: Contains fulltext : 218857.pdf (Publisher’s version ) (Closed access)
Published: 2020

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

Author: Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., Schwartz, P.J., Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., and Schwartz, P.J.
Abstract: Contains fulltext : 230155.pdf (Publisher’s version ) (Open Access)
Published: 2020

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

Author: Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., Schwartz, P.J., Lahrouchi, N., Tadros, R., Crotti, L., Mizusawa, Y., Postema, P.G., Beekman, L., Walsh, R., Hasegawa, K., Barc, J., Ernsting, M., Turkowski, K.L., Mazzanti, A., Beckmann, B.M., Shimamoto, K., Diamant, U.B., Wijeyeratne, Y.D., Kucho, Y., Robyns, T., Ishikawa, T., Arbelo, E., Christiansen, M., Winbo, A., Jabbari, R., Lubitz, S.A., Steinfurt, J., Rudic, B., Loeys, B., Shoemaker, M.B., Weeke, P.E., Pfeiffer, R., Davies, B., Andorin, A., Hofman, N., Dagradi, F., Pedrazzini, M., Tester, D.J., Bos, J.M, Sarquella-Brugada, G., Campuzano, Ó., Platonov, P.G., Stallmeyer, B., Zumhagen, S., Nannenberg, E.A., Veldink, J.H., Berg, L.H. van den, Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Andersen, P.M., Müller-Nurasyid, M., Cusi, D., Barlassina, C., Galan, P., Lathrop, M., Munter, M., Werge, T., Ribasés, M., Aung, T., Khor, C.C., Ozaki, M., Lichtner, P., Meitinger, T., Tintelen, J.P. van, Hoedemaekers, Y.M., Denjoy, I., Leenhardt, A., Napolitano, C., Shimizu, W., Schott, J.J., Gourraud, J.B., Makiyama, T., Ohno, S., Itoh, H., Krahn, A.D., Antzelevitch, C., Roden, D.M., Saenen, J., Borggrefe, M., Odening, K.E., Ellinor, P.T., Tfelt-Hansen, J., Skinner, J.R., Berg, M.P., Olesen, M.S., Brugada, J., Brugada, R., Makita, N., Breckpot, J., Yoshinaga, M., Behr, E.R., Rydberg, A., Aiba, T., Kääb, S., Priori, S.G., Guicheney, P., Tan, H.L., Newton-Cheh, C., Ackerman, M.J., and Schwartz, P.J.
Abstract: Contains fulltext : 230155.pdf (Publisher’s version ) (Open Access)
Published: 2020

15. Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

Author: Postema, P.G., Schwartz, P.J., Arbelo, E., Bannenberg, W.J., Behr, E.R., Belhassen, B., Brugada, J., Brugada, P., Camm, A. John, Casado-Arroyo, R., Hoen, E. t, Hollak, C.E., Kaab, S., Lambiase, P.D., Leenhardt, A., Priori, S.G., Probst, V., Stunnenberg, B.C., Tfelt-Hansen, J., Engelen, B.G.M. van, Veltmann, C., Viskin, S., Wilde, A.A., Postema, P.G., Schwartz, P.J., Arbelo, E., Bannenberg, W.J., Behr, E.R., Belhassen, B., Brugada, J., Brugada, P., Camm, A. John, Casado-Arroyo, R., Hoen, E. t, Hollak, C.E., Kaab, S., Lambiase, P.D., Leenhardt, A., Priori, S.G., Probst, V., Stunnenberg, B.C., Tfelt-Hansen, J., Engelen, B.G.M. van, Veltmann, C., Viskin, S., and Wilde, A.A.
Abstract: Contains fulltext : 218857.pdf (Publisher’s version ) (Closed access)
Published: 2020

16. Clinical effectiveness of primary prevention implantable cardioverter-defibrillators:results of the EU-CERT-ICD controlled multicentre cohort study

Author: Zabel, M. (Markus), Willems, R. (Rik), Lubinski, A. (Andrzej), Bauer, A. (Axel), Brugada, J. (Josep), Conen, D. (David), Flevari, P. (Panagiota), Hasenfuß, G. (Gerd), Svetlosak, M. (Martin), Huikuri, H. V. (Heikki V.), Malik, M. (Marek), Pavlović, N. (Nikola), Schmidt, G. (Georg), Sritharan, R. (Rajevaa), Schlögl, S. (Simon), Szavits-Nossan, J. (Janko), Traykov, V. (Vassil), Tuinenburg, A. E. (Anton E.), Willich, S. N. (Stefan N.), Harden, M. (Markus), Friede, T. (Tim), Svendsen, J. H. (Jesper Hastrup), Sticherling, C. (Christian), Merkely, B. (Béla), EU-CERT-ICD Study Investigators, Zabel, M. (Markus), Willems, R. (Rik), Lubinski, A. (Andrzej), Bauer, A. (Axel), Brugada, J. (Josep), Conen, D. (David), Flevari, P. (Panagiota), Hasenfuß, G. (Gerd), Svetlosak, M. (Martin), Huikuri, H. V. (Heikki V.), Malik, M. (Marek), Pavlović, N. (Nikola), Schmidt, G. (Georg), Sritharan, R. (Rajevaa), Schlögl, S. (Simon), Szavits-Nossan, J. (Janko), Traykov, V. (Vassil), Tuinenburg, A. E. (Anton E.), Willich, S. N. (Stefan N.), Harden, M. (Markus), Friede, T. (Tim), Svendsen, J. H. (Jesper Hastrup), Sticherling, C. (Christian), Merkely, B. (Béla), and EU-CERT-ICD Study Investigators
Abstract: Aims: The EUropean Comparative Effectiveness Research to Assess the Use of Primary ProphylacTic Implantable Cardioverter-Defibrillators (EU-CERT-ICD), a prospective investigator-initiated, controlled cohort study, was conducted in 44 centres and 15 European countries. It aimed to assess current clinical effectiveness of primary prevention ICD therapy. Methods and results: We recruited 2327 patients with ischaemic cardiomyopathy (ICM) or dilated cardiomyopathy (DCM) and guideline indications for prophylactic ICD implantation. Primary endpoint was all-cause mortality. Clinical characteristics, medications, resting, and 12-lead Holter electrocardiograms (ECGs) were documented at enrolment baseline. Baseline and follow-up (FU) data from 2247 patients were analysable, 1516 patients before first ICD implantation (ICD group) and 731 patients without ICD serving as controls. Multivariable models and propensity scoring for adjustment were used to compare the two groups for mortality. During mean FU of 2.4 ± 1.1 years, 342 deaths occurred (6.3%/years annualized mortality, 5.6%/years in the ICD group vs. 9.2%/years in controls), favouring ICD treatment [unadjusted hazard ratio (HR) 0.682, 95% confidence interval (CI) 0.537–0.865, P = 0.0016]. Multivariable mortality predictors included age, left ventricular ejection fraction (LVEF), New York Heart Association class
Published: 2020

17. Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Author: Mates, J., Mademont-Soler, I., Fernandez-Falgueras, A., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Garcia-Alvarez, A., Jorda, P., Toro, R., Coll, M., Fiol, V., Iglesias, A., Perez-Serra, A., Olmo, B. D., Alcalde, M., Puigmule, M., Pico, F., Lopez, L., Ferrer, C., Tiron, C., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., Oliva A. (ORCID:0000-0001-7120-616X), Mates, J., Mademont-Soler, I., Fernandez-Falgueras, A., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Garcia-Alvarez, A., Jorda, P., Toro, R., Coll, M., Fiol, V., Iglesias, A., Perez-Serra, A., Olmo, B. D., Alcalde, M., Puigmule, M., Pico, F., Lopez, L., Ferrer, C., Tiron, C., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., and Oliva A. (ORCID:0000-0001-7120-616X)
Abstract: Over the last ten years, analysis of copy number variants has increasingly been applied to the study of arrhythmogenic pathologies associated with sudden death, mainly due to significant advances in the field of massive genetic sequencing. Nevertheless, few published reports have focused on the prevalence of copy number variants associated with sudden cardiac death. As a result, the frequency of these genetic alterations in arrhythmogenic diseases as well as their genetic interpretation and clinical translation has not been established. This review summarizes the current available data concerning copy number variants in sudden cardiac death-related diseases.
Published: 2020

18. Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

Author: Campuzano, O., Sarquella-Brugada, G., Fernandez-Falgueras, A., Coll, M., Iglesias, A., Ferrer-Costa, C., Cesar, S., Arbelo, E., Garcia-Alvarez, A., Jorda, P., Toro, R., Tiron de Llano, C., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Oliva A. (ORCID:0000-0001-7120-616X), Campuzano, O., Sarquella-Brugada, G., Fernandez-Falgueras, A., Coll, M., Iglesias, A., Ferrer-Costa, C., Cesar, S., Arbelo, E., Garcia-Alvarez, A., Jorda, P., Toro, R., Tiron de Llano, C., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., and Oliva A. (ORCID:0000-0001-7120-616X)
Abstract: Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis of rare variants associated with inherited arrhythmogenic syndromes, which were classified ten years ago, to determine whether their classification aligns with current standards and research findings. Methods: In 2010, the rare variants identified through genetic analysis were classified following recommendations available at that time. Nowadays, the same variants have been reclassified following current American College of Medical Genetics and Genomics recommendations. Findings: Our cohort included 104 cases diagnosed with inherited arrhythmogenic syndromes and 17 post-mortem cases in which inherited arrhythmogenic syndromes was cause of death. 71.87% of variants change their classification. While 65.62% of variants were classified as likely pathogenic in 2010, after reanalysis, only 17.96% remain as likely pathogenic. In 2010, 18.75% of variants were classified as uncertain role but nowadays 60.15% of variants are classified of unknown significance. Interpretation: Reclassification occurred in more than 70% of rare variants associated with inherited arrhythmogenic syndromes. Our results support the periodical reclassification and personalized clinical translation of rare variants to improve diagnosis and adjust treatment. Funding: Obra Social "La Caixa Foundation" (ID 100010434, LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690), Sociedad Española de Cardiología, and “Fundacio Privada Daniel Bravo Andreu”.
Published: 2020

19. Impact of body mass index on the outcome of catheter ablation of atrial fibrillation

Author: Glover, B.M., Hong, K.L., Dagres, N., Arbelo, E., Laroche, C., Riahi, S., Bertini, M., Mikhaylov, E.N., Galvin, J., Kiliszek, M., Pokushalov, E., Kautzner, J., Calvo, N., Vernooy, K., Blomstrom-Lundqvist, C., Brugada, J., Glover, B.M., Hong, K.L., Dagres, N., Arbelo, E., Laroche, C., Riahi, S., Bertini, M., Mikhaylov, E.N., Galvin, J., Kiliszek, M., Pokushalov, E., Kautzner, J., Calvo, N., Vernooy, K., Blomstrom-Lundqvist, C., and Brugada, J.
Abstract: Item does not contain fulltext, OBJECTIVES: The association between obesity and atrial fibrillation (AF) is well-established. We aimed to evaluate the impact of index body mass index (BMI) on AF recurrence at 12 months following catheter ablation using propensity-weighted analysis. In addition, periprocedural complications and fluoroscopy details were examined to assess overall safety in relationship to increasing BMI ranges. METHODS: Baseline, periprocedural and follow-up data were collected on consecutive patients scheduled for AF ablation. There were no specific exclusion criteria. Patients were categorised according to baseline BMI in order to assess the outcomes for each category. RESULTS: Among 3333 patients, 728 (21.8%) were classified as normal (BMI <25.0 kg/m(2)), 1537 (46.1%) as overweight (BMI 25.5-29.0 kg/m(2)) and 1068 (32.0%) as obese (BMI >/=30.0 kg/m(2)). Procedural duration and radiation dose were higher for overweight and obese patients compared with those with a normal BMI (p=0.002 and p<0.001, respectively). An index BMI >/=30 kg/m(2) led to a 1.2-fold increased likelihood of experiencing recurrent AF at 12-months follow-up as compared with overweight patients (HR 1.223; 95% CI 1.047 to 1.429; p=0.011), while no significant correlation was found between overweight and normal BMI groups (HR 0.954; 95% CI 0.798 to 1.140; p=0.605) and obese versus normal BMI (HR 1.16; 95% CI 0.965 to 1.412; p=0.112). CONCLUSIONS: Patients with a baseline BMI >/=30 kg/m(2) have a higher recurrence rate of AF following catheter ablation and therefore lifestyle modification to target obesity preprocedure should be considered in these patients.
Published: 2019

20. Impact of body mass index on the outcome of catheter ablation of atrial fibrillation

Author: Glover, B.M., Hong, K.L., Dagres, N., Arbelo, E., Laroche, C., Riahi, S., Bertini, M., Mikhaylov, E.N., Galvin, J., Kiliszek, M., Pokushalov, E., Kautzner, J., Calvo, N., Vernooy, K., Blomstrom-Lundqvist, C., Brugada, J., Glover, B.M., Hong, K.L., Dagres, N., Arbelo, E., Laroche, C., Riahi, S., Bertini, M., Mikhaylov, E.N., Galvin, J., Kiliszek, M., Pokushalov, E., Kautzner, J., Calvo, N., Vernooy, K., Blomstrom-Lundqvist, C., and Brugada, J.
Abstract: Item does not contain fulltext, OBJECTIVES: The association between obesity and atrial fibrillation (AF) is well-established. We aimed to evaluate the impact of index body mass index (BMI) on AF recurrence at 12 months following catheter ablation using propensity-weighted analysis. In addition, periprocedural complications and fluoroscopy details were examined to assess overall safety in relationship to increasing BMI ranges. METHODS: Baseline, periprocedural and follow-up data were collected on consecutive patients scheduled for AF ablation. There were no specific exclusion criteria. Patients were categorised according to baseline BMI in order to assess the outcomes for each category. RESULTS: Among 3333 patients, 728 (21.8%) were classified as normal (BMI <25.0 kg/m(2)), 1537 (46.1%) as overweight (BMI 25.5-29.0 kg/m(2)) and 1068 (32.0%) as obese (BMI >/=30.0 kg/m(2)). Procedural duration and radiation dose were higher for overweight and obese patients compared with those with a normal BMI (p=0.002 and p<0.001, respectively). An index BMI >/=30 kg/m(2) led to a 1.2-fold increased likelihood of experiencing recurrent AF at 12-months follow-up as compared with overweight patients (HR 1.223; 95% CI 1.047 to 1.429; p=0.011), while no significant correlation was found between overweight and normal BMI groups (HR 0.954; 95% CI 0.798 to 1.140; p=0.605) and obese versus normal BMI (HR 1.16; 95% CI 0.965 to 1.412; p=0.112). CONCLUSIONS: Patients with a baseline BMI >/=30 kg/m(2) have a higher recurrence rate of AF following catheter ablation and therefore lifestyle modification to target obesity preprocedure should be considered in these patients.
Published: 2019

21. Impact of body mass index on the outcome of catheter ablation of atrial fibrillation

Author: Glover, B.M., Hong, K.L., Dagres, N., Arbelo, E., Laroche, C., Riahi, S., Bertini, M., Mikhaylov, E.N., Galvin, J., Kiliszek, M., Pokushalov, E., Kautzner, J., Calvo, N., Vernooy, K., Blomstrom-Lundqvist, C., Brugada, J., Glover, B.M., Hong, K.L., Dagres, N., Arbelo, E., Laroche, C., Riahi, S., Bertini, M., Mikhaylov, E.N., Galvin, J., Kiliszek, M., Pokushalov, E., Kautzner, J., Calvo, N., Vernooy, K., Blomstrom-Lundqvist, C., and Brugada, J.
Abstract: Item does not contain fulltext, OBJECTIVES: The association between obesity and atrial fibrillation (AF) is well-established. We aimed to evaluate the impact of index body mass index (BMI) on AF recurrence at 12 months following catheter ablation using propensity-weighted analysis. In addition, periprocedural complications and fluoroscopy details were examined to assess overall safety in relationship to increasing BMI ranges. METHODS: Baseline, periprocedural and follow-up data were collected on consecutive patients scheduled for AF ablation. There were no specific exclusion criteria. Patients were categorised according to baseline BMI in order to assess the outcomes for each category. RESULTS: Among 3333 patients, 728 (21.8%) were classified as normal (BMI <25.0 kg/m(2)), 1537 (46.1%) as overweight (BMI 25.5-29.0 kg/m(2)) and 1068 (32.0%) as obese (BMI >/=30.0 kg/m(2)). Procedural duration and radiation dose were higher for overweight and obese patients compared with those with a normal BMI (p=0.002 and p<0.001, respectively). An index BMI >/=30 kg/m(2) led to a 1.2-fold increased likelihood of experiencing recurrent AF at 12-months follow-up as compared with overweight patients (HR 1.223; 95% CI 1.047 to 1.429; p=0.011), while no significant correlation was found between overweight and normal BMI groups (HR 0.954; 95% CI 0.798 to 1.140; p=0.605) and obese versus normal BMI (HR 1.16; 95% CI 0.965 to 1.412; p=0.112). CONCLUSIONS: Patients with a baseline BMI >/=30 kg/m(2) have a higher recurrence rate of AF following catheter ablation and therefore lifestyle modification to target obesity preprocedure should be considered in these patients.
Published: 2019

22. Cryoballoon versus radiofrequency ablation for atrial fibrillation - a study of outcome and safety based on the ESC-EHRA AF ablation long-term registry and the Swedish catheter ablation registry

Author: Mortsell, D., Arbelo, E., Dagres, N., Brugada, J., Trines, S., Malmborg, H., Höglund, Niklas, Tavazzi, L., Stabile, G., Blomstrom Lundqvist, C., Mortsell, D., Arbelo, E., Dagres, N., Brugada, J., Trines, S., Malmborg, H., Höglund, Niklas, Tavazzi, L., Stabile, G., and Blomstrom Lundqvist, C.
Abstract: Background: Pulmonary vein isolation (PVI), the standard for atrial fibrillation (AF) ablation, is most commonly applied with radiofrequency (RF) energy, although cryoballoon technology (CRYO) has gained widespread use. Purpose: The aim was to compare the second generation cryoballoon and the irrigated RF energy regarding outcomes and safety. Methods: In total, 4657 patients undergoing their first AF ablation were included; 982 with CRYO and 3675 with RF energy from the Swedish catheter ablation registry and the ESC- EHRA Atrial Fibrillation Ablation Long-Term registry. Primary endpoint was repeat AF ablation. Major secondary endpoints included procedural duration, tachyarrhythmia recurrence (>30 seconds duration) and complication rate. Results: The re-ablation rate after 12 months of follow-up was significantly lower in the CRYO versus the RF group, 7.8% versus 11%, p=0.0041 (Figure 1), while freedom from arrhythmia recurrence did not differ between the groups, 70.2% versus 68.2%, p=0.44. The result was not influenced by AF type and RF lesion sets. In multiple Cox regression analysis, paroxysmal AF patients had significantly lower re-ablation risk after CRYO ablation, hazard ratio 0.56 (p=0.041). Procedural duration was significantly shorter with CRYO than RF, (mean±SD) 133.6±45.2 minutes versus 174.6±58.2 minutes, p<0.001. Complication rates did not differ; 53/982 (5.4%) versus 191/3675 (5.2%), CRYO versus RF, p=0.806. Conclusion: The cryoballoon was superior to conventional RF energy by its lower re-ablation rates and shorter procedure times, irrespective of RFablation lesion set used, and with equal safety, which has important clinical and health economic implications., Supplement: 1Meeting Abstract: 361
Published: 2018
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23. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: Executive summary

Author: Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina K.), Cosedis Nielsen, J. (Jens), Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), D'Avila, A. (Andr'E), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), MacLe, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R.), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), Yamane, T. (Teiichi), Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina K.), Cosedis Nielsen, J. (Jens), Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), D'Avila, A. (Andr'E), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), MacLe, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R.), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), and Yamane, T. (Teiichi)
Published: 2018
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24. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation

Author: Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina K.), Cosedis Nielsen, J. (Jens), Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), D'Avila, A. (Andr'E), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), MacLe, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R.), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), Yamane, T. (Teiichi), Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina K.), Cosedis Nielsen, J. (Jens), Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), D'Avila, A. (Andr'E), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), MacLe, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R.), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), and Yamane, T. (Teiichi)
Published: 2018
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25. Hypothermia-induced ECG changes: characteristic, but not specific

Author: Michels, G., Ney, S., Hoffmann, F., Brugada, J., Pfister, R., Brockmeier, K., Sultan, A., Michels, G., Ney, S., Hoffmann, F., Brugada, J., Pfister, R., Brockmeier, K., and Sultan, A.
Abstract: Hypothermia-induced J-orso-called Osborn waves can be detected under therapeutic hypothermia in approximately 20-40% of cases. The occurrence of J-waves in the context of the targeted temperature management after cardiopulmonary resuscitation is characteristic, but not pathognomonic for hypothermia. An electrocardiographic diagnosis under hypothermia after cardiac arrest should always be done with caution due to the various hypothermia-associated electromechanical changes of the myocardium.
Published: 2018

26. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, and Yamane, T
Published: 2018

27. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: Executive summary

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, and Yamane, T
Published: 2018

28. Hypothermia-induced ECG changes: characteristic, but not specific

Author: Michels, G., Ney, S., Hoffmann, F., Brugada, J., Pfister, R., Brockmeier, K., Sultan, A., Michels, G., Ney, S., Hoffmann, F., Brugada, J., Pfister, R., Brockmeier, K., and Sultan, A.
Abstract: Hypothermia-induced J-orso-called Osborn waves can be detected under therapeutic hypothermia in approximately 20-40% of cases. The occurrence of J-waves in the context of the targeted temperature management after cardiopulmonary resuscitation is characteristic, but not pathognomonic for hypothermia. An electrocardiographic diagnosis under hypothermia after cardiac arrest should always be done with caution due to the various hypothermia-associated electromechanical changes of the myocardium.
Published: 2018

29. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: Executive summary

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, and Yamane, T
Published: 2018

30. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, and Yamane, T
Published: 2018

31. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation

Author: Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina), Nielsen, J.C., Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), d'Avila, A. (André), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), Macle, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), Yamane, T. (Teiichi), Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina), Nielsen, J.C., Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), d'Avila, A. (André), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), Macle, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), and Yamane, T. (Teiichi)
Published: 2017
Full Text: View/download PDF

32. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: Executive summary

Author: Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina), Nielsen, J.C., Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), d'Avila, A. (André), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), Macle, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), Yamane, T. (Teiichi), Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina), Nielsen, J.C., Curtis, A.B. (Anne B.), Davies, D.W. (D. Wyn), Day, J.D. (John D.), d'Avila, A. (André), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), Macle, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), and Yamane, T. (Teiichi)
Published: 2017
Full Text: View/download PDF

33. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: executive summary

Author: Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina), Nielsen, J.C., Curtis, A.B. (Anne B.), Wyn Davies, D. (D.), Day, J.D. (John D.), d’Avila, A. (André), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), Macle, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), Yamane, T. (Teiichi), Calkins, H. (Hugh), Hindricks, G. (Gerhard), Cappato, R. (Riccardo), Kim, Y.-H. (Young-Hoon), Saad, E.B. (Eduardo B.), Aguinaga, L. (Luis), Akar, J.G. (Joseph G.), Badhwar, V. (Vinay), Brugada, J. (Josep), Camm, J. (John), Chen, P.-S. (Peng-Sheng), Chen, S.-A. (Shih-Ann), Chung, M.K. (Mina), Nielsen, J.C., Curtis, A.B. (Anne B.), Wyn Davies, D. (D.), Day, J.D. (John D.), d’Avila, A. (André), Groot, N.M.S. (Natasja) de, Di Biase, L. (Luigi), Duytschaever, M. (Mattias), Edgerton, J.R. (James R.), Ellenbogen, K.A. (Kenneth), Ellinor, P.T. (Patrick), Ernst, S. (Sabine), Fenelon, G. (Guilherme), Gerstenfeld, E.P. (Edward P.), Haines, D.E. (David E.), Haissaguerre, M. (Michel), Helm, R.H. (Robert H.), Hylek, E. (Elaine), Jackman, W.M. (Warren M.), Jalife, J. (Jose), Kalman, J.M. (Jonathan M.), Kautzner, J. (Josef), Kottkamp, H. (Hans), Kuck, K.H. (Karl Heinz), Kumagai, K. (Koichiro), Lee, R. (Richard), Lewalter, T. (Thorsten), Lindsay, B.D. (Bruce D.), Macle, L. (Laurent), Mansour, M. (Moussa), Marchlinski, F.E. (Francis E.), Michaud, G.F. (Gregory F.), Nakagawa, H. (Hiroshi), Natale, A. (Andrea), Nattel, S. (Stanley), Okumura, K. (Ken), Packer, D.L. (Douglas L.), Pokushalov, E. (Evgeny), Reynolds, M.R. (Matthew R), Sanders, P. (Prashanthan), Scanavacca, M. (Mauricio), Schilling, R. (Richard), Tondo, C. (Claudio), Tsao, H.-M. (Hsuan-Ming), Verma, A. (Atul), Wilber, D.J. (David J.), and Yamane, T. (Teiichi)
Published: 2017
Full Text: View/download PDF

34. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, W, Day, JD, d'Avila, A, De Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, W, Day, JD, d'Avila, A, De Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, and Yamane, T
Published: 2017

35. 2017HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: Executive summary

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, and Yamane, T
Published: 2017

36. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: executive summary

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, Y-H, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, P-S, Chen, S-A, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, NMSN, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, H-M, Verma, A, Wilber, DJ, and Yamane, T
Published: 2017

37. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: executive summary

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, and Yamane, T
Published: 2017

38. 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: Executive summary

Author: Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, Yamane, T, Calkins, H, Hindricks, G, Cappato, R, Kim, YH, Saad, EB, Aguinaga, L, Akar, JG, Badhwar, V, Brugada, J, Camm, J, Chen, PS, Chen, SA, Chung, MK, Nielsen, JC, Curtis, AB, Davies, DW, Day, JD, d'Avila, A, de Groot, Natasja, Di Biase, L, Duytschaever, M, Edgerton, JR, Ellenbogen, KA, Ellinor, PT, Ernst, S, Fenelon, G, Gerstenfeld, EP, Haines, DE, Haissaguerre, M, Helm, RH, Hylek, E, Jackman, WM, Jalife, J, Kalman, JM, Kautzner, J, Kottkamp, H, Kuck, KH, Kumagai, K, Lee, R, Lewalter, T, Lindsay, BD, Macle, L, Mansour, M, Marchlinski, FE, Michaud, GF, Nakagawa, H, Natale, A, Nattel, S, Okumura, K, Packer, D, Pokushalov, E, Reynolds, MR, Sanders, P, Scanavacca, M, Schilling, R, Tondo, C, Tsao, HM, Verma, A, Wilber, DJ, and Yamane, T
Published: 2017

39. Spatiotemporal Characteristics of QRS Complexes Enable the Diagnosis of Brugada Syndrome Regardless of the Appearance of a Type 1 ECG

Author: Universitat Politècnica de València. Departamento de Ingeniería Electrónica - Departament d'Enginyeria Electrònica, Universitat Politècnica de València, Generalitat Valenciana, Ministerio de Economía y Competitividad, Ministerio de Ciencia e Innovación, Guillem Sánchez, María Salud, M. Climent, Andreu, Millet Roig, José, Berne, P, Ramos, R, Brugada, J, Brugada, R, Universitat Politècnica de València. Departamento de Ingeniería Electrónica - Departament d'Enginyeria Electrònica, Universitat Politècnica de València, Generalitat Valenciana, Ministerio de Economía y Competitividad, Ministerio de Ciencia e Innovación, Guillem Sánchez, María Salud, M. Climent, Andreu, Millet Roig, José, Berne, P, Ramos, R, Brugada, J, and Brugada, R
Abstract: [EN] Abstract INTRODUCTION: The diagnosis of Brugada syndrome based on the ECG is hampered by the dynamic nature of its ECG manifestations. Brugada syndrome patients are only 25% likely to present a type 1 ECG. The objective of this study is to provide an ECG diagnostic criterion for Brugada syndrome patients that can be applied consistently even in the absence of a type 1 ECG. METHODS AND RESULTS: We recorded 67-lead body surface potential maps from 94 Brugada syndrome patients and 82 controls (including right bundle branch block patients and healthy individuals). The spatial propagation direction during the last r' wave and the slope at the end of the QRS complex were measured and compared between patients groups. Receiver-operating characteristic curves were constructed for half of the database to identify optimal cutoff values; sensitivity and specificity for these cutoff values were measured in the other half of the database. A spontaneous type 1 ECG was present in only 30% of BrS patients. An orientation in the sagittal plane < 101º during the last r' wave and a descending slope < 9.65 mV/s enables the diagnosis of the syndrome with a sensitivity of 69% and a specificity of 97% in non-type 1 Brugada syndrome patients. CONCLUSION: Spatiotemporal characteristics of surface ECG recordings can enable a robust identification of BrS even without the presence of a type 1 ECG.
Published: 2016

40. Spatiotemporal Characteristics of QRS Complexes Enable the Diagnosis of Brugada Syndrome Regardless of the Appearance of a Type 1 ECG

Author: Universitat Politècnica de València. Departamento de Ingeniería Electrónica - Departament d'Enginyeria Electrònica, Universitat Politècnica de València, Generalitat Valenciana, Ministerio de Ciencia e Innovación, Ministerio de Economía y Competitividad, Guillem Sánchez, María Salud, M. Climent, Andreu, Millet Roig, José, Berne, P, Ramos, R, Brugada, J, Brugada, R, Universitat Politècnica de València. Departamento de Ingeniería Electrónica - Departament d'Enginyeria Electrònica, Universitat Politècnica de València, Generalitat Valenciana, Ministerio de Ciencia e Innovación, Ministerio de Economía y Competitividad, Guillem Sánchez, María Salud, M. Climent, Andreu, Millet Roig, José, Berne, P, Ramos, R, Brugada, J, and Brugada, R
Abstract: [EN] Abstract INTRODUCTION: The diagnosis of Brugada syndrome based on the ECG is hampered by the dynamic nature of its ECG manifestations. Brugada syndrome patients are only 25% likely to present a type 1 ECG. The objective of this study is to provide an ECG diagnostic criterion for Brugada syndrome patients that can be applied consistently even in the absence of a type 1 ECG. METHODS AND RESULTS: We recorded 67-lead body surface potential maps from 94 Brugada syndrome patients and 82 controls (including right bundle branch block patients and healthy individuals). The spatial propagation direction during the last r' wave and the slope at the end of the QRS complex were measured and compared between patients groups. Receiver-operating characteristic curves were constructed for half of the database to identify optimal cutoff values; sensitivity and specificity for these cutoff values were measured in the other half of the database. A spontaneous type 1 ECG was present in only 30% of BrS patients. An orientation in the sagittal plane < 101º during the last r' wave and a descending slope < 9.65 mV/s enables the diagnosis of the syndrome with a sensitivity of 69% and a specificity of 97% in non-type 1 Brugada syndrome patients. CONCLUSION: Spatiotemporal characteristics of surface ECG recordings can enable a robust identification of BrS even without the presence of a type 1 ECG.
Published: 2016

41. Scar dechanneling: new method for scar-related left ventricular tachycardia substrate ablation

Author: Berruezo, A., Fernandez-Armenta, J., Andreu, D., Penela, D., Herczku, C., Evertz, R., Cipolletta, L., Acosta, J., Borras, R., Arbelo, E., Tolosana, J.M., Brugada, J., Mont, L., Berruezo, A., Fernandez-Armenta, J., Andreu, D., Penela, D., Herczku, C., Evertz, R., Cipolletta, L., Acosta, J., Borras, R., Arbelo, E., Tolosana, J.M., Brugada, J., and Mont, L.
Abstract: Item does not contain fulltext, BACKGROUND: Ventricular tachycardia (VT) substrate ablation usually requires extensive ablation. Scar dechanneling technique may limit the extent of ablation needed. METHODS AND RESULTS: The study included 101 consecutive patients with left ventricular scar-related VT (75 ischemic patients; left ventricular ejection fraction, 36 +/- 13%). Procedural end point was the elimination of all identified conducting channels (CCs) by ablation at the CC entrance followed by abolition of residual inducible VTs. By itself, scar dechanneling rendered noninducibility in 54.5% of patients; ablation of residual inducible VT increased noninducibility to 78.2%. Patients needing only scar dechanneling had a shorter procedure (213 +/- 64 versus 244 +/- 71 minutes; P = 0.027), fewer radiofrequency applications (19 +/- 11% versus 27 +/- 18%; P = 0.01), and external cardioversion/defibrillation shocks (20% versus 65.2%; P < 0.001). At 2 years, patients needing scar dechanneling alone had better event-free survival (80% versus 62%) and lower mortality (5% versus 11%). Incomplete CC-electrogram elimination was the only independent predictor (hazard ratio, 2.54 [1.06-6.10]) for the primary end point. Higher end point-free survival rates were observed in patients noninducible after scar dechanneling (log-rank P = 0.013) and those with complete CC-electrogram elimination (log-rank P = 0.013). The complications rate was 6.9%, with no deaths. CONCLUSIONS: Scar dechanneling alone results in low recurrence and mortality rates in more than half of patients despite the limited ablation extent required. Residual inducible VT ablation improves acute results, but patients who require it have worse outcomes. Recurrences are mainly related to incomplete CC-electrogram elimination.
Published: 2015

42. Quantification of local changes in myocardial motion by diffeomorphic registration via currents: application to paced hypertrophic obstructive cardiomyopathy in 2D echocardiographic sequences

Author: Duchateau, N., Giraldeau, G., Gabrielli, L., Fernandez-Armenta, J., Penela, D., Evertz, R., Mont, L., Brugada, J., Berruezo, A., Sitges, M., Bijnens, B.H., Duchateau, N., Giraldeau, G., Gabrielli, L., Fernandez-Armenta, J., Penela, D., Evertz, R., Mont, L., Brugada, J., Berruezo, A., Sitges, M., and Bijnens, B.H.
Abstract: Item does not contain fulltext, Time-to-peak measurements and single-parameter observations are cumbersome and often confusing for quantifying local changes in myocardial function. Recent spatiotemporal normalization techniques can provide a global picture of myocardial motion and strain patterns and overcome some of these limitations. Despite these advances, the quantification of pattern changes remains descriptive, which limits their relevance for longitudinal studies. Our paper provides a new perspective to the longitudinal analysis of myocardial motion. Non-rigid registration (diffeomorphic registration via currents) is used to match pairs of patterns, and pattern changes are inferred from the registration output. Scalability is added to the different components of the input patterns in order to tune up the contributions of the spatial, temporal and magnitude dimensions to data changes, which are of interest for our application. The technique is illustrated on 2D echocardiographic sequences from 15 patients with hypertrophic obstructive cardiomyopathy. These patients underwent biventricular pacing, which aims at provoking mechanical dyssynchrony to reduce left ventricular outflow tract (LVOT) obstruction. We demonstrate that our method can automatically quantify timing and magnitude changes in myocardial motion between baseline (non-paced) and 1 year follow-up (pacing on), resulting in a more robust analysis of complex patterns and subtle changes. Our method helps confirming that the reduction of LVOT pressure gradient actually comes from the induction of the type of dyssynchrony that was expected.
Published: 2015

43. Optimized pacing mode for hypertrophic cardiomyopathy: Impact of ECG fusion during pacing

Author: Berruezo, A., Penela, D., Burgos, F., Evertz, R., Fernandez-Armenta, J., Roca, J., Doltra, A., Acosta, J., Francino, A., Sitges, M., Alsina, X., Ordonez, A., Villuendas, R., Brugada, R., Mont, L., Brugada, J., Berruezo, A., Penela, D., Burgos, F., Evertz, R., Fernandez-Armenta, J., Roca, J., Doltra, A., Acosta, J., Francino, A., Sitges, M., Alsina, X., Ordonez, A., Villuendas, R., Brugada, R., Mont, L., and Brugada, J.
Abstract: Item does not contain fulltext, BACKGROUND: Electrocardiographic (ECG) fusion with intrinsic QRS could reduce the benefit of atrial synchronous biventricular pacing (AS-BiVP) in patients with hypertrophic obstructive cardiomyopathy (HOCM). OBJECTIVES: The purpose of this study was to assess the benefit of AS-BiVP and the influence of ECG fusion for reduction of left ventricular outflow tract gradient (LVOTG) in these patients. METHODS: Twenty-one symptomatic HOCM patients with severe LVOTG were included. Twelve patients were evaluated retrospectively for the prevalence of fusion and its influence on outcomes after AS-BiVP. Eleven patients (2 of the first population were also evaluated retrospectively) were prospectively included to evaluate the benefit of performing atrioventricular node ablation (AVNA) to achieve full ventricular capture if fusion was present during AS-BiVP. RESULTS: Seven of the first 12 patients (58%) had ECG fusion. After 54 +/- 24 months of AS-BiVP, the presence of fusion was associated with lower values for reduction of resting, dynamic LVOTG and New York Heart Association (NYHA) class. In the prospectively evaluated patients, after 12 months of follow-up, resting LVOTG decreased from 98 +/- 39 to 39 +/- 24 mm Hg (P = .008); dynamic LVOTG decreased from 112 +/- 38 to 60 +/- 24 mm Hg (P = .013); NYHA class decreased from 2.8 +/- 0.4 to 1.7 +/- 0.6 (P = .014); endurance time during constant work rate cycling exercise (80% of peak oxygen consumption) increased from 399 +/- 148 to 691 +/- 249 seconds (P = .046); quality of life improved from 46 +/- 22 to 22 +/- 20 points (P = .02); and brain natriuretic peptide levels decreased from 318 +/- 238 to 152 +/- 118 pg/mL (P = .09). Eight of the 11 prospectively evaluated patients (73%) needed AVNA, which further decreased LVOTG from 108 +/- 40 mm Hg at baseline to 89 +/- 29 mm Hg after BiVP to 54 +/- 22 mm Hg after AVNA (P = .003). CONCLUSION: As-BiVP that ensures no ECG fusion, by means of AVNA when needed, appears to be the optimal
Published: 2015

44. Scar dechanneling: new method for scar-related left ventricular tachycardia substrate ablation

Author: Berruezo, A., Fernandez-Armenta, J., Andreu, D., Penela, D., Herczku, C., Evertz, R., Cipolletta, L., Acosta, J., Borras, R., Arbelo, E., Tolosana, J.M., Brugada, J., Mont, L., Berruezo, A., Fernandez-Armenta, J., Andreu, D., Penela, D., Herczku, C., Evertz, R., Cipolletta, L., Acosta, J., Borras, R., Arbelo, E., Tolosana, J.M., Brugada, J., and Mont, L.
Abstract: Item does not contain fulltext, BACKGROUND: Ventricular tachycardia (VT) substrate ablation usually requires extensive ablation. Scar dechanneling technique may limit the extent of ablation needed. METHODS AND RESULTS: The study included 101 consecutive patients with left ventricular scar-related VT (75 ischemic patients; left ventricular ejection fraction, 36 +/- 13%). Procedural end point was the elimination of all identified conducting channels (CCs) by ablation at the CC entrance followed by abolition of residual inducible VTs. By itself, scar dechanneling rendered noninducibility in 54.5% of patients; ablation of residual inducible VT increased noninducibility to 78.2%. Patients needing only scar dechanneling had a shorter procedure (213 +/- 64 versus 244 +/- 71 minutes; P = 0.027), fewer radiofrequency applications (19 +/- 11% versus 27 +/- 18%; P = 0.01), and external cardioversion/defibrillation shocks (20% versus 65.2%; P < 0.001). At 2 years, patients needing scar dechanneling alone had better event-free survival (80% versus 62%) and lower mortality (5% versus 11%). Incomplete CC-electrogram elimination was the only independent predictor (hazard ratio, 2.54 [1.06-6.10]) for the primary end point. Higher end point-free survival rates were observed in patients noninducible after scar dechanneling (log-rank P = 0.013) and those with complete CC-electrogram elimination (log-rank P = 0.013). The complications rate was 6.9%, with no deaths. CONCLUSIONS: Scar dechanneling alone results in low recurrence and mortality rates in more than half of patients despite the limited ablation extent required. Residual inducible VT ablation improves acute results, but patients who require it have worse outcomes. Recurrences are mainly related to incomplete CC-electrogram elimination.
Published: 2015

45. Quantification of local changes in myocardial motion by diffeomorphic registration via currents: application to paced hypertrophic obstructive cardiomyopathy in 2D echocardiographic sequences

Author: Duchateau, N., Giraldeau, G., Gabrielli, L., Fernandez-Armenta, J., Penela, D., Evertz, R., Mont, L., Brugada, J., Berruezo, A., Sitges, M., Bijnens, B.H., Duchateau, N., Giraldeau, G., Gabrielli, L., Fernandez-Armenta, J., Penela, D., Evertz, R., Mont, L., Brugada, J., Berruezo, A., Sitges, M., and Bijnens, B.H.
Abstract: Item does not contain fulltext, Time-to-peak measurements and single-parameter observations are cumbersome and often confusing for quantifying local changes in myocardial function. Recent spatiotemporal normalization techniques can provide a global picture of myocardial motion and strain patterns and overcome some of these limitations. Despite these advances, the quantification of pattern changes remains descriptive, which limits their relevance for longitudinal studies. Our paper provides a new perspective to the longitudinal analysis of myocardial motion. Non-rigid registration (diffeomorphic registration via currents) is used to match pairs of patterns, and pattern changes are inferred from the registration output. Scalability is added to the different components of the input patterns in order to tune up the contributions of the spatial, temporal and magnitude dimensions to data changes, which are of interest for our application. The technique is illustrated on 2D echocardiographic sequences from 15 patients with hypertrophic obstructive cardiomyopathy. These patients underwent biventricular pacing, which aims at provoking mechanical dyssynchrony to reduce left ventricular outflow tract (LVOT) obstruction. We demonstrate that our method can automatically quantify timing and magnitude changes in myocardial motion between baseline (non-paced) and 1 year follow-up (pacing on), resulting in a more robust analysis of complex patterns and subtle changes. Our method helps confirming that the reduction of LVOT pressure gradient actually comes from the induction of the type of dyssynchrony that was expected.
Published: 2015

46. Optimized pacing mode for hypertrophic cardiomyopathy: Impact of ECG fusion during pacing

Author: Berruezo, A., Penela, D., Burgos, F., Evertz, R., Fernandez-Armenta, J., Roca, J., Doltra, A., Acosta, J., Francino, A., Sitges, M., Alsina, X., Ordonez, A., Villuendas, R., Brugada, R., Mont, L., Brugada, J., Berruezo, A., Penela, D., Burgos, F., Evertz, R., Fernandez-Armenta, J., Roca, J., Doltra, A., Acosta, J., Francino, A., Sitges, M., Alsina, X., Ordonez, A., Villuendas, R., Brugada, R., Mont, L., and Brugada, J.
Abstract: Item does not contain fulltext, BACKGROUND: Electrocardiographic (ECG) fusion with intrinsic QRS could reduce the benefit of atrial synchronous biventricular pacing (AS-BiVP) in patients with hypertrophic obstructive cardiomyopathy (HOCM). OBJECTIVES: The purpose of this study was to assess the benefit of AS-BiVP and the influence of ECG fusion for reduction of left ventricular outflow tract gradient (LVOTG) in these patients. METHODS: Twenty-one symptomatic HOCM patients with severe LVOTG were included. Twelve patients were evaluated retrospectively for the prevalence of fusion and its influence on outcomes after AS-BiVP. Eleven patients (2 of the first population were also evaluated retrospectively) were prospectively included to evaluate the benefit of performing atrioventricular node ablation (AVNA) to achieve full ventricular capture if fusion was present during AS-BiVP. RESULTS: Seven of the first 12 patients (58%) had ECG fusion. After 54 +/- 24 months of AS-BiVP, the presence of fusion was associated with lower values for reduction of resting, dynamic LVOTG and New York Heart Association (NYHA) class. In the prospectively evaluated patients, after 12 months of follow-up, resting LVOTG decreased from 98 +/- 39 to 39 +/- 24 mm Hg (P = .008); dynamic LVOTG decreased from 112 +/- 38 to 60 +/- 24 mm Hg (P = .013); NYHA class decreased from 2.8 +/- 0.4 to 1.7 +/- 0.6 (P = .014); endurance time during constant work rate cycling exercise (80% of peak oxygen consumption) increased from 399 +/- 148 to 691 +/- 249 seconds (P = .046); quality of life improved from 46 +/- 22 to 22 +/- 20 points (P = .02); and brain natriuretic peptide levels decreased from 318 +/- 238 to 152 +/- 118 pg/mL (P = .09). Eight of the 11 prospectively evaluated patients (73%) needed AVNA, which further decreased LVOTG from 108 +/- 40 mm Hg at baseline to 89 +/- 29 mm Hg after BiVP to 54 +/- 22 mm Hg after AVNA (P = .003). CONCLUSION: As-BiVP that ensures no ECG fusion, by means of AVNA when needed, appears to be the optimal
Published: 2015

47. Scar dechanneling: new method for scar-related left ventricular tachycardia substrate ablation

Author: Berruezo, A., Fernandez-Armenta, J., Andreu, D., Penela, D., Herczku, C., Evertz, R., Cipolletta, L., Acosta, J., Borras, R., Arbelo, E., Tolosana, J.M., Brugada, J., Mont, L., Berruezo, A., Fernandez-Armenta, J., Andreu, D., Penela, D., Herczku, C., Evertz, R., Cipolletta, L., Acosta, J., Borras, R., Arbelo, E., Tolosana, J.M., Brugada, J., and Mont, L.
Abstract: Item does not contain fulltext, BACKGROUND: Ventricular tachycardia (VT) substrate ablation usually requires extensive ablation. Scar dechanneling technique may limit the extent of ablation needed. METHODS AND RESULTS: The study included 101 consecutive patients with left ventricular scar-related VT (75 ischemic patients; left ventricular ejection fraction, 36 +/- 13%). Procedural end point was the elimination of all identified conducting channels (CCs) by ablation at the CC entrance followed by abolition of residual inducible VTs. By itself, scar dechanneling rendered noninducibility in 54.5% of patients; ablation of residual inducible VT increased noninducibility to 78.2%. Patients needing only scar dechanneling had a shorter procedure (213 +/- 64 versus 244 +/- 71 minutes; P = 0.027), fewer radiofrequency applications (19 +/- 11% versus 27 +/- 18%; P = 0.01), and external cardioversion/defibrillation shocks (20% versus 65.2%; P < 0.001). At 2 years, patients needing scar dechanneling alone had better event-free survival (80% versus 62%) and lower mortality (5% versus 11%). Incomplete CC-electrogram elimination was the only independent predictor (hazard ratio, 2.54 [1.06-6.10]) for the primary end point. Higher end point-free survival rates were observed in patients noninducible after scar dechanneling (log-rank P = 0.013) and those with complete CC-electrogram elimination (log-rank P = 0.013). The complications rate was 6.9%, with no deaths. CONCLUSIONS: Scar dechanneling alone results in low recurrence and mortality rates in more than half of patients despite the limited ablation extent required. Residual inducible VT ablation improves acute results, but patients who require it have worse outcomes. Recurrences are mainly related to incomplete CC-electrogram elimination.
Published: 2015

48. Quantification of local changes in myocardial motion by diffeomorphic registration via currents: application to paced hypertrophic obstructive cardiomyopathy in 2D echocardiographic sequences

Author: Duchateau, N., Giraldeau, G., Gabrielli, L., Fernandez-Armenta, J., Penela, D., Evertz, R., Mont, L., Brugada, J., Berruezo, A., Sitges, M., Bijnens, B.H., Duchateau, N., Giraldeau, G., Gabrielli, L., Fernandez-Armenta, J., Penela, D., Evertz, R., Mont, L., Brugada, J., Berruezo, A., Sitges, M., and Bijnens, B.H.
Abstract: Item does not contain fulltext, Time-to-peak measurements and single-parameter observations are cumbersome and often confusing for quantifying local changes in myocardial function. Recent spatiotemporal normalization techniques can provide a global picture of myocardial motion and strain patterns and overcome some of these limitations. Despite these advances, the quantification of pattern changes remains descriptive, which limits their relevance for longitudinal studies. Our paper provides a new perspective to the longitudinal analysis of myocardial motion. Non-rigid registration (diffeomorphic registration via currents) is used to match pairs of patterns, and pattern changes are inferred from the registration output. Scalability is added to the different components of the input patterns in order to tune up the contributions of the spatial, temporal and magnitude dimensions to data changes, which are of interest for our application. The technique is illustrated on 2D echocardiographic sequences from 15 patients with hypertrophic obstructive cardiomyopathy. These patients underwent biventricular pacing, which aims at provoking mechanical dyssynchrony to reduce left ventricular outflow tract (LVOT) obstruction. We demonstrate that our method can automatically quantify timing and magnitude changes in myocardial motion between baseline (non-paced) and 1 year follow-up (pacing on), resulting in a more robust analysis of complex patterns and subtle changes. Our method helps confirming that the reduction of LVOT pressure gradient actually comes from the induction of the type of dyssynchrony that was expected.
Published: 2015

49. Optimized pacing mode for hypertrophic cardiomyopathy: Impact of ECG fusion during pacing

Author: Berruezo, A., Penela, D., Burgos, F., Evertz, R., Fernandez-Armenta, J., Roca, J., Doltra, A., Acosta, J., Francino, A., Sitges, M., Alsina, X., Ordonez, A., Villuendas, R., Brugada, R., Mont, L., Brugada, J., Berruezo, A., Penela, D., Burgos, F., Evertz, R., Fernandez-Armenta, J., Roca, J., Doltra, A., Acosta, J., Francino, A., Sitges, M., Alsina, X., Ordonez, A., Villuendas, R., Brugada, R., Mont, L., and Brugada, J.
Abstract: Item does not contain fulltext, BACKGROUND: Electrocardiographic (ECG) fusion with intrinsic QRS could reduce the benefit of atrial synchronous biventricular pacing (AS-BiVP) in patients with hypertrophic obstructive cardiomyopathy (HOCM). OBJECTIVES: The purpose of this study was to assess the benefit of AS-BiVP and the influence of ECG fusion for reduction of left ventricular outflow tract gradient (LVOTG) in these patients. METHODS: Twenty-one symptomatic HOCM patients with severe LVOTG were included. Twelve patients were evaluated retrospectively for the prevalence of fusion and its influence on outcomes after AS-BiVP. Eleven patients (2 of the first population were also evaluated retrospectively) were prospectively included to evaluate the benefit of performing atrioventricular node ablation (AVNA) to achieve full ventricular capture if fusion was present during AS-BiVP. RESULTS: Seven of the first 12 patients (58%) had ECG fusion. After 54 +/- 24 months of AS-BiVP, the presence of fusion was associated with lower values for reduction of resting, dynamic LVOTG and New York Heart Association (NYHA) class. In the prospectively evaluated patients, after 12 months of follow-up, resting LVOTG decreased from 98 +/- 39 to 39 +/- 24 mm Hg (P = .008); dynamic LVOTG decreased from 112 +/- 38 to 60 +/- 24 mm Hg (P = .013); NYHA class decreased from 2.8 +/- 0.4 to 1.7 +/- 0.6 (P = .014); endurance time during constant work rate cycling exercise (80% of peak oxygen consumption) increased from 399 +/- 148 to 691 +/- 249 seconds (P = .046); quality of life improved from 46 +/- 22 to 22 +/- 20 points (P = .02); and brain natriuretic peptide levels decreased from 318 +/- 238 to 152 +/- 118 pg/mL (P = .09). Eight of the 11 prospectively evaluated patients (73%) needed AVNA, which further decreased LVOTG from 108 +/- 40 mm Hg at baseline to 89 +/- 29 mm Hg after BiVP to 54 +/- 22 mm Hg after AVNA (P = .003). CONCLUSION: As-BiVP that ensures no ECG fusion, by means of AVNA when needed, appears to be the optimal
Published: 2015

50. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

Author: Alcalde, M, Campuzano, O, Sarquella Brugada, G, Arbelo, E, Allegue, C, Partemi, S, Iglesias, A, Oliva, Antonio, Brugada, J, Brugada, R., Oliva, Antonio (ORCID:0000-0001-7120-616X), Alcalde, M, Campuzano, O, Sarquella Brugada, G, Arbelo, E, Allegue, C, Partemi, S, Iglesias, A, Oliva, Antonio, Brugada, J, Brugada, R., and Oliva, Antonio (ORCID:0000-0001-7120-616X)
Abstract: Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.
Published: 2015

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