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257 results on '"Bosman, Laurens P."'

2. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Author

Nagyova, Emilia, Hoorntje, Edgar T., te Rijdt, Wouter P., Bosman, Laurens P., Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M., Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H., Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M., Duru, Firat, Koskenvuo, Juha W., Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P., Dooijes, Dennis, Lekanne Deprez, Ronald H., Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A. M., Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F., van den Berg, Maarten P., Asselbergs, Folkert W., James, Cynthia A., Jongbloed, Jan D. H., Harakalova, Magdalena, and van Tintelen, J. Peter

Published
2023
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4. The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

Author

Bos, Thomas A., Piers, Sebastiaan R. D., Wessels, Marja W., Houweling, Arjan C., Bökenkamp, Regina, Bootsma, Marianne, Bosman, Laurens P., Evertz, Reinder, Hellebrekers, Debby M. E. I., Hoedemaekers, Yvonne M., Knijnenburg, Jeroen, Lekanne Deprez, Ronald, van Mil, Anneke M., te Riele, Anneline S. J. M., van Slegtenhorst, Marjon A., Wilde, Arthur A. M., Yap, Sing-Chien, Dooijes, Dennis, Koopmann, Tamara T., van Tintelen, J. Peter, and Barge-Schaapveld, Daniela Q. C. M.

Published
2023
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6. Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Muller, Steven A., Gasperetti, Alessio, Bosman, Laurens P., Schmidt, Amand F., Baas, Annette F., Amin, Ahmad S., Houweling, Arjan C., Wilde, Arthur A.M., Compagnucci, Paolo, Targetti, Mattia, Casella, Michela, Calò, Leonardo, Tondo, Claudio, van der Harst, Pim, Asselbergs, Folkert W., van Tintelen, J. Peter, Oerlemans, Marish I.F.J., and te Riele, Anneline S.J.M.

Published
2023
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8. Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Roudijk, Robert W., Verheul, Lisa, Bosman, Laurens P., Bourfiss, Mimount, Breur, Johannes M.P.J., Slieker, Martijn G., Blank, Andreas C., Dooijes, Dennis, van der Heijden, Jeroen F., van den Heuvel, Freek, Clur, Sally-Ann, Udink ten Cate, Floris E.A., van den Berg, Maarten P., Wilde, Arthur A.M., Asselbergs, Folkert W., Peter van Tintelen, J., and te Riele, Anneline S.J.M.

Published
2022
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10. Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study

Author

van der Heide, Myrthe Y C, primary, Verstraelen, Tom E, additional, van Lint, Freyja H M, additional, Bosman, Laurens P, additional, de Brouwer, Remco, additional, Proost, Virginnio M, additional, van Drie, Esmée, additional, Taha, Karim, additional, Zwinderman, Aeilko H, additional, Dickhoff, Cathelijne, additional, Schoonderwoerd, Bas A, additional, Germans, Tjeerd, additional, Houweling, Arjan C, additional, Gimeno-Blanes, Juan R, additional, van der Zwaag, Paul A, additional, de Boer, Rudolf A, additional, Cox, Moniek G P J, additional, van Tintelen, J Peter, additional, and Wilde, Arthur A M, additional

Published
2024
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11. Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study

Author

Genetica, Genetica Groep Van Tintelen, Arts Assistenten Cardiologie, Cancer, Child Health, Circulatory Health, van der Heide, Myrthe Y.C., Verstraelen, Tom E., van Lint, Freyja H.M., Bosman, Laurens P., de Brouwer, Remco, Proost, Virginnio M., van Drie, Esmée, Taha, Karim, Zwinderman, Aeilko H., Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan C., Gimeno-Blanes, Juan R., van der Zwaag, Paul A., de Boer, Rudolf A., Cox, Moniek G.P.J., van Tintelen, J. Peter, Wilde, Arthur A.M., Genetica, Genetica Groep Van Tintelen, Arts Assistenten Cardiologie, Cancer, Child Health, Circulatory Health, van der Heide, Myrthe Y.C., Verstraelen, Tom E., van Lint, Freyja H.M., Bosman, Laurens P., de Brouwer, Remco, Proost, Virginnio M., van Drie, Esmée, Taha, Karim, Zwinderman, Aeilko H., Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan C., Gimeno-Blanes, Juan R., van der Zwaag, Paul A., de Boer, Rudolf A., Cox, Moniek G.P.J., van Tintelen, J. Peter, and Wilde, Arthur A.M.

Published
2024

12. The Specificity of Left Ventricular Bite-Like Fibrofatty Replacement for Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Arts Assistenten Cardiologie, Team Medisch, Circulatory Health, Team Onderzoek, Researchgr. Hart-brein as., Brain, Umair, Muhammad, Asatryan, Babken, Aliyari Ghasabeh, Mounes, Bosman, Laurens P., Murray, Brittney, Tichnell, Crystal, te Riele, Anneline S.J.M., Velthuis, Birgitta K., James, Cynthia A., Zimmerman, Stefan L., Arts Assistenten Cardiologie, Team Medisch, Circulatory Health, Team Onderzoek, Researchgr. Hart-brein as., Brain, Umair, Muhammad, Asatryan, Babken, Aliyari Ghasabeh, Mounes, Bosman, Laurens P., Murray, Brittney, Tichnell, Crystal, te Riele, Anneline S.J.M., Velthuis, Birgitta K., James, Cynthia A., and Zimmerman, Stefan L.

Published
2024

13. Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe

Author

Arts Assistenten Cardiologie, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Team Onderzoek, Carrick, Richard T, De Marco, Corrado, Gasperetti, Alessio, Bosman, Laurens P, Gourraud, Jean-Baptiste, Trancuccio, Alessandro, Mazzanti, Andrea, Murray, Brittney, Pendleton, Catherine, Tichnell, Crystal, Tandri, Harikrishna, Zeppenfeld, Katja, Wilde, Arthur A M, Davies, Brianna, Seifer, Colette, Roberts, Jason D, Healey, Jeff S, MacIntyre, Ciorsti, Alqarawi, Wael, Tadros, Rafik, Cutler, Michael J, Targetti, Mattia, Calò, Leonardo, Vitali, Francesco, Bertini, Matteo, Compagnucci, Paolo, Casella, Michela, Dello Russo, Antonio, Cappelletto, Chiara, De Luca, Antonio, Stolfo, Davide, Duru, Firat, Jensen, Henrik K, Svensson, Anneli, Dahlberg, Pia, Hasselberg, Nina E, Di Marco, Andrea, Jordà, Paloma, Arbelo, Elena, Moreno Weidmann, Zoraida, Borowiec, Karolina, Delinière, Antoine, Biernacka, Elżbieta K, van Tintelen, J Peter, Platonov, Pyotr G, Olivotto, Iacopo, Saguner, Ardan M, Haugaa, Kristina H, Cox, Moniek, Tondo, Claudio, Merlo, Marco, Krahn, Andrew D, Te Riele, Anneline S J M, Wu, Katherine C, Calkins, Hugh, James, Cynthia A, Cadrin-Tourigny, Julia, Arts Assistenten Cardiologie, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Team Onderzoek, Carrick, Richard T, De Marco, Corrado, Gasperetti, Alessio, Bosman, Laurens P, Gourraud, Jean-Baptiste, Trancuccio, Alessandro, Mazzanti, Andrea, Murray, Brittney, Pendleton, Catherine, Tichnell, Crystal, Tandri, Harikrishna, Zeppenfeld, Katja, Wilde, Arthur A M, Davies, Brianna, Seifer, Colette, Roberts, Jason D, Healey, Jeff S, MacIntyre, Ciorsti, Alqarawi, Wael, Tadros, Rafik, Cutler, Michael J, Targetti, Mattia, Calò, Leonardo, Vitali, Francesco, Bertini, Matteo, Compagnucci, Paolo, Casella, Michela, Dello Russo, Antonio, Cappelletto, Chiara, De Luca, Antonio, Stolfo, Davide, Duru, Firat, Jensen, Henrik K, Svensson, Anneli, Dahlberg, Pia, Hasselberg, Nina E, Di Marco, Andrea, Jordà, Paloma, Arbelo, Elena, Moreno Weidmann, Zoraida, Borowiec, Karolina, Delinière, Antoine, Biernacka, Elżbieta K, van Tintelen, J Peter, Platonov, Pyotr G, Olivotto, Iacopo, Saguner, Ardan M, Haugaa, Kristina H, Cox, Moniek, Tondo, Claudio, Merlo, Marco, Krahn, Andrew D, Te Riele, Anneline S J M, Wu, Katherine C, Calkins, Hugh, James, Cynthia A, and Cadrin-Tourigny, Julia

Published
2024

14. Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe

Author

Carrick, Richard T., De Marco, Corrado, Gasperetti, Alessio, Bosman, Laurens P., Gourraud, Jean-Baptiste, Trancuccio, Alessandro, Mazzanti, Andrea, Murray, Brittney, Pendleton, Catherine, Tichnell, Crystal, Tandri, Harikrishna, Zeppenfeld, Katja, Wilde, Arthur A. M., Davies, Brianna, Seifer, Colette, Roberts, Jason D., Healey, Jeff S., MacIntyre, Ciorsti, Alqarawi, Wael, Tadros, Rafik, Cutler, Michael J., Targetti, Mattia, Calo, Leonardo, Vitali, Francesco, Bertini, Matteo, Compagnucci, Paolo, Casella, Michela, Dello Russo, Antonio, Cappelletto, Chiara, De Luca, Antonio, Stolfo, Davide, Duru, Firat, Jensen, Henrik K., Svensson, Anneli, Dahlberg, Pia, Hasselberg, Nina E., Di Marco, Andrea, Jorda, Paloma, Arbelo, Elena, Moreno Weidmann, Zoraida, Borowiec, Karolina, Deliniere, Antoine, Biernacka, Elzbieta K., van Tintelen, J. Peter, Platonov, Pyotr G., Olivotto, Iacopo, Saguner, Ardan M., Haugaa, Kristina H., Cox, Moniek, Tondo, Claudio, Merlo, Marco, Krahn, Andrew D., te Riele, Anneline S. J. M., Wu, Katherine C., Calkins, Hugh, James, Cynthia A., Cadrin-Tourigny, Julia, Carrick, Richard T., De Marco, Corrado, Gasperetti, Alessio, Bosman, Laurens P., Gourraud, Jean-Baptiste, Trancuccio, Alessandro, Mazzanti, Andrea, Murray, Brittney, Pendleton, Catherine, Tichnell, Crystal, Tandri, Harikrishna, Zeppenfeld, Katja, Wilde, Arthur A. M., Davies, Brianna, Seifer, Colette, Roberts, Jason D., Healey, Jeff S., MacIntyre, Ciorsti, Alqarawi, Wael, Tadros, Rafik, Cutler, Michael J., Targetti, Mattia, Calo, Leonardo, Vitali, Francesco, Bertini, Matteo, Compagnucci, Paolo, Casella, Michela, Dello Russo, Antonio, Cappelletto, Chiara, De Luca, Antonio, Stolfo, Davide, Duru, Firat, Jensen, Henrik K., Svensson, Anneli, Dahlberg, Pia, Hasselberg, Nina E., Di Marco, Andrea, Jorda, Paloma, Arbelo, Elena, Moreno Weidmann, Zoraida, Borowiec, Karolina, Deliniere, Antoine, Biernacka, Elzbieta K., van Tintelen, J. Peter, Platonov, Pyotr G., Olivotto, Iacopo, Saguner, Ardan M., Haugaa, Kristina H., Cox, Moniek, Tondo, Claudio, Merlo, Marco, Krahn, Andrew D., te Riele, Anneline S. J. M., Wu, Katherine C., Calkins, Hugh, James, Cynthia A., and Cadrin-Tourigny, Julia

Abstract

Background and Aims Implantable cardioverter-defibrillators (ICDs) are critical for preventing sudden cardiac death (SCD) in arrhythmogenic right ventricular cardiomyopathy (ARVC). This study aims to identify cross-continental differences in utilization of primary prevention ICDs and survival free from sustained ventricular arrhythmia (VA) in ARVC.Methods This was a retrospective analysis of ARVC patients without prior VA enrolled in clinical registries from 11 countries throughout Europe and North America. Patients were classified according to whether they received treatment in North America or Europe and were further stratified by baseline predicted VA risk into low- (<10%/5 years), intermediate- (10%-25%/5 years), and high-risk (>25%/5 years) groups. Differences in ICD implantation and survival free from sustained VA events (including appropriate ICD therapy) were assessed.Results One thousand ninety-eight patients were followed for a median of 5.1 years; 554 (50.5%) received a primary prevention ICD, and 286 (26.0%) experienced a first VA event. After adjusting for baseline risk factors, North Americans were more than three times as likely to receive ICDs {hazard ratio (HR) 3.1 [95% confidence interval (CI) 2.5, 3.8]} but had only mildly increased risk for incident sustained VA [HR 1.4 (95% CI 1.1, 1.8)]. North Americans without ICDs were at higher risk for incident sustained VA [HR 2.1 (95% CI 1.3, 3.4)] than Europeans.Conclusions North American ARVC patients were substantially more likely than Europeans to receive primary prevention ICDs across all arrhythmic risk strata. A lower rate of ICD implantation in Europe was not associated with a higher rate of VA events in those without ICDs., Funding Agencies|Leonie-Wild Foundation; Leyla Erkan Family Fund for ARVD Research; Hugh Calkins, Marvin H. Weiner, and Jacqueline J. Bernstein Cardiac Arrhythmia Center; Dr Francis P. Chiaramonte Private Foundation; Dr Satish, Rupal, and Robin Shah ARVD Fund at Johns Hopkins; Bogle Foundation; Campanella Family; Patrick J. Harrison Family; Peter French Memorial Foundation; ALF foundation; Wilmerding Endowments; NIH [T32HL007227]; NIH Loan Repayment Program [L30HL165535]; Philippa and Marvin Carsley Cardiology Research Chair; Montreal Heart Institute Foundation; Norwegian Research Council [309762, 288438, 298736]; ZonMW Off Road personal research grant; Dutch Heart Association; Netherlands Cardiovascular Research Initiative - Dutch Heart Foundation [2018-30 PREDICT2]; Dutch Heart Foundation; Netherlands Heart Institute [06901]; Georg and Bertha Schwyzer-Winiker Foundation; Baugarten Foundation; Swiss National Science Foundation; Swiss Heart Foundation; USZ Foundation; Daniel Bravo Foundation; Spanish Society of Cardiology; Sociedad Espanola de Cardiologia; Swedish Heart Lung Foundation

Published
2024
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15. Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia:a landmark study

Author

van der Heide, Myrthe Y.C., Verstraelen, Tom E., van Lint, Freyja H.M., Bosman, Laurens P., de Brouwer, Remco, Proost, Virginnio M., van Drie, Esmée, Taha, Karim, Zwinderman, Aeilko H., Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan C., Gimeno-Blanes, Juan R., van der Zwaag, Paul A., de Boer, Rudolf A., Cox, Moniek G.P.J., van Tintelen, J. Peter, Wilde, Arthur A.M., van der Heide, Myrthe Y.C., Verstraelen, Tom E., van Lint, Freyja H.M., Bosman, Laurens P., de Brouwer, Remco, Proost, Virginnio M., van Drie, Esmée, Taha, Karim, Zwinderman, Aeilko H., Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan C., Gimeno-Blanes, Juan R., van der Zwaag, Paul A., de Boer, Rudolf A., Cox, Moniek G.P.J., van Tintelen, J. Peter, and Wilde, Arthur A.M.

Abstract

Aims:Recently, a genetic variant-specific prediction model for phospholamban (PLN) p.(Arg14del)-positive individuals was developed to predict individual major ventricular arrhythmia (VA) risk to support decision-making for primary prevention implantable cardioverter defibrillator (ICD) implantation. This model predicts major VA risk from baseline data, but iterative evaluation of major VA risk may be warranted considering that the risk factors for major VA are progressive. Our aim is to evaluate the diagnostic performance of the PLN p.(Arg14del) risk model at 3-year follow-up. Methods:We performed a landmark analysis 3 years after presentation and selected only patients with no prior major VA. Data were and results collected of 268 PLN p.(Arg14del)-positive subjects, aged 43.5 ± 16.3 years, 38.9% male. After the 3 years landmark, subjects had a mean follow-up of 4.0 years (± 3.5 years) and 28 (10%) subjects experienced major VA with an annual event rate of 2.6% [95% confidence interval (CI) 1.6–3.6], defined as sustained VA, appropriate ICD intervention, or (aborted) sudden cardiac death. The PLN p.(Arg14del) risk score yielded good discrimination in the 3 years landmark cohort with a C-statistic of 0.83 (95% CI 0.79–0.87) and calibration slope of 0.97. Conclusion:The PLN p.(Arg14del) risk model has sustained good model performance up to 3 years follow-up in PLN p.(Arg14del)positive subjects with no history of major VA. It may therefore be used to support decision-making for primary prevention ICD implantation not merely at presentation but also up to at least 3 years of follow-up.

Published
2024

17. Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe

Author

Carrick, Richard T, primary, De Marco, Corrado, additional, Gasperetti, Alessio, additional, Bosman, Laurens P, additional, Gourraud, Jean-Baptiste, additional, Trancuccio, Alessandro, additional, Mazzanti, Andrea, additional, Murray, Brittney, additional, Pendleton, Catherine, additional, Tichnell, Crystal, additional, Tandri, Harikrishna, additional, Zeppenfeld, Katja, additional, Wilde, Arthur A M, additional, Davies, Brianna, additional, Seifer, Colette, additional, Roberts, Jason D, additional, Healey, Jeff S, additional, MacIntyre, Ciorsti, additional, Alqarawi, Wael, additional, Tadros, Rafik, additional, Cutler, Michael J, additional, Targetti, Mattia, additional, Calò, Leonardo, additional, Vitali, Francesco, additional, Bertini, Matteo, additional, Compagnucci, Paolo, additional, Casella, Michela, additional, Dello Russo, Antonio, additional, Cappelletto, Chiara, additional, De Luca, Antonio, additional, Stolfo, Davide, additional, Duru, Firat, additional, Jensen, Henrik K, additional, Svensson, Anneli, additional, Dahlberg, Pia, additional, Hasselberg, Nina E, additional, Di Marco, Andrea, additional, Jordà, Paloma, additional, Arbelo, Elena, additional, Moreno Weidmann, Zoraida, additional, Borowiec, Karolina, additional, Delinière, Antoine, additional, Biernacka, Elżbieta K, additional, van Tintelen, J Peter, additional, Platonov, Pyotr G, additional, Olivotto, Iacopo, additional, Saguner, Ardan M, additional, Haugaa, Kristina H, additional, Cox, Moniek, additional, Tondo, Claudio, additional, Merlo, Marco, additional, Krahn, Andrew D, additional, te Riele, Anneline S J M, additional, Wu, Katherine C, additional, Calkins, Hugh, additional, James, Cynthia A, additional, and Cadrin-Tourigny, Julia, additional

Published
2024
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21. Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study.

Author

Heide, Myrthe Y C van der, Verstraelen, Tom E, Lint, Freyja H M van, Bosman, Laurens P, Brouwer, Remco de, Proost, Virginnio M, Drie, Esmée van, Taha, Karim, Zwinderman, Aeilko H, Dickhoff, Cathelijne, Schoonderwoerd, Bas A, Germans, Tjeerd, Houweling, Arjan C, Gimeno-Blanes, Juan R, Zwaag, Paul A van der, Boer, Rudolf A de, Cox, Moniek G P J, Tintelen, J Peter van, and Wilde, Arthur A M

Abstract

Aims Recently, a genetic variant-specific prediction model for phospholamban (PLN) p.(Arg14del)-positive individuals was developed to predict individual major ventricular arrhythmia (VA) risk to support decision-making for primary prevention implantable cardioverter defibrillator (ICD) implantation. This model predicts major VA risk from baseline data, but iterative evaluation of major VA risk may be warranted considering that the risk factors for major VA are progressive. Our aim is to evaluate the diagnostic performance of the PLN p.(Arg14del) risk model at 3-year follow-up. Methods and results We performed a landmark analysis 3 years after presentation and selected only patients with no prior major VA. Data were collected of 268 PLN p.(Arg14del)-positive subjects, aged 43.5 ± 16.3 years, 38.9% male. After the 3 years landmark, subjects had a mean follow-up of 4.0 years (± 3.5 years) and 28 (10%) subjects experienced major VA with an annual event rate of 2.6% [95% confidence interval (CI) 1.6–3.6], defined as sustained VA, appropriate ICD intervention, or (aborted) sudden cardiac death. The PLN p.(Arg14del) risk score yielded good discrimination in the 3 years landmark cohort with a C-statistic of 0.83 (95% CI 0.79–0.87) and calibration slope of 0.97. Conclusion The PLN p.(Arg14del) risk model has sustained good model performance up to 3 years follow-up in PLN p.(Arg14del)-positive subjects with no history of major VA. It may therefore be used to support decision-making for primary prevention ICD implantation not merely at presentation but also up to at least 3 years of follow-up. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Sudden Cardiac Death Prediction in Arrhythmogenic Right Ventricular Cardiomyopathy: A Multinational Collaboration

Author

Cadrin-Tourigny, Julia, Bosman, Laurens P., Wang, Weijia, Tadros, Rafik, Bhonsale, Aditya, Bourfiss, Mimount, Lie, Øyvind H., Saguner, Ardan M., Svensson, Anneli, Andorin, Antoine, Tichnell, Crystal, Murray, Brittney, Zeppenfeld, Katja, van den Berg, Maarten P., Asselbergs, Folkert W., Wilde, Arthur A.M., Krahn, Andrew D., Talajic, Mario, Rivard, Lena, Chelko, Stephen, Zimmerman, Stefan L., Kamel, Ihab R., Crosson, Jane E., Judge, Daniel P., Yap, Sing-Chien, Van der Heijden, Jeroen F., Tandri, Harikrishna, Jongbloed, Jan D.H., van Tintelen, J. Peter, Platonov, Pyotr G., Duru, Firat, Haugaa, Kristina H., Khairy, Paul, Hauer, Richard N.W., Calkins, Hugh, te Riele, Anneline S.J.M., and James, Cynthia A.

Published
2021
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23. The added value of abnormal regional myocardial function for risk prediction in arrhythmogenic right ventricular cardiomyopathy

Author

Kirkels, Feddo P, primary, Rootwelt-Norberg, Christine, additional, Bosman, Laurens P, additional, Aabel, Eivind W, additional, Muller, Steven A, additional, Castrini, Anna I, additional, Taha, Karim, additional, van Osta, Nick, additional, Lie, Øyvind H, additional, Asselbergs, Folkert W, additional, Lumens, Joost, additional, te Riele, Anneline S J M, additional, Hasselberg, Nina E, additional, Cramer, Maarten J, additional, Haugaa, Kristina H, additional, and Teske, Arco J, additional

Published
2023
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24. Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers.

Author

Lopera-Maya, Esteban A., Li, Shuang, de Brouwer, Remco, Nolte, Ilja M., van Breen, Justin, The Netherlands A. C. M./P. L. N. Registry, Bosman, Laurens P., Verstraelen, Tom E., van Lint, Freya H. M., Cox, Moniek G. P. J., Groeneweg, Judith A., Mast, Thomas P., van der Zwaag, Paul A., Volders, Paul G. A., Evertz, Reinder, Wong, Lisa, de Groot, Natasja M. S., Zeppenfeld, Katja, van der Heijden, Jeroen F., and van den Berg, Maarten P.

Abstract

The c.40_42delAGA variant in the phospholamban gene (PLN) has been associated with dilated and arrhythmogenic cardiomyopathy, with up to 70% of carriers experiencing a major cardiac event by age 70. However, there are carriers who remain asymptomatic at older ages. To understand the mechanisms behind this incomplete penetrance, we evaluated potential phenotypic and genetic modifiers in 74 PLN:c.40_42delAGA carriers identified in 36,339 participants of the Lifelines population cohort. Asymptomatic carriers (N = 48) showed shorter QRS duration (− 5.73 ms, q value = 0.001) compared to asymptomatic non-carriers, an effect we could replicate in two different independent cohorts. Furthermore, symptomatic carriers showed a higher correlation (rPearson = 0.17) between polygenic predisposition to higher QRS (PGSQRS) and QRS (p value = 1.98 × 10–8), suggesting that the effect of the genetic variation on cardiac rhythm might be increased in symptomatic carriers. Our results allow for improved clinical interpretation for asymptomatic carriers, while our approach could guide future studies on genetic diseases with incomplete penetrance. [ABSTRACT FROM AUTHOR]

Published
2023
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25. MP-453089-11 DIFFERENCES IN UTILIZATION OF PRIMARY PREVENTION IMPLANTABLE CARDIOVERTER DEFIBRILLATORS IN ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ACROSS NORTH AMERICA AND EUROPE

Author

Carrick, Richard, primary, De Marco, Corrado, additional, Gasperetti, Alessio, additional, Bosman, Laurens P., additional, GOURRAUD, JEAN BAPTISTE, additional, Mazzanti, Andrea, additional, Murray, Brittney A., additional, Pendleton, Catherine, additional, Tichnell, Crystal, additional, Tandri, Harikrishna, additional, Zeppenfeld, Katja, additional, Wilde, Arthur A., additional, Davies, Brianna, additional, Seifer, Colette M., additional, Roberts, Jason D., additional, Healey, Jeffrey S., additional, MacIntyre, Ciorsti, additional, Alqarawi, Wael, additional, Tadros, Rafik, additional, Cutler, Michael J., additional, Targetti, Mattia, additional, Caló, Leonardo, additional, Vitali, Francesco, additional, Bertini, Matteo, additional, Compagnucci, Paolo, additional, Casella, Michela, additional, Russo, Antonio Dello, additional, Cappelletto, Chiara, additional, De Luca, Antonio, additional, Stolfo, Davide, additional, Duru, Firat, additional, Jensen, Henrik K., additional, Svensson, Anneli, additional, Dahlberg, Pia, additional, Hasselberg, Nina, additional, Di Marco, Andrea, additional, Jorda, Paloma, additional, Arbelo, Elena, additional, Moreno weidmann, Zoraida, additional, Borowiec, Karolina, additional, Deliniere, Antoine, additional, Biernacka, Elzbieta K., additional, van Tintelen, Peter, additional, Platonov, Pyotr G., additional, Olivotto, Iacopo, additional, Saguner, Ardan, additional, Haugaa, Kristina H., additional, Cox, Moniek, additional, Tondo, Claudio, additional, Merlo, Marco, additional, Krahn, Andrew D., additional, Riele, Anneline te, additional, Wu, Katherine C., additional, Calkins, Hugh, additional, James, Cynthia A., additional, and CADRIN-TOURIGNY, JULIA, additional

Published
2023
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26. PO-05-202 FIRST DRAFT OF A NOVEL PLN P.ARG14DEL HEART FAILURE RISK MODEL TO POTENTIALLY AID PATIENT SELECTION FOR FUTURE GENE THERAPY.

Author

der Heide, Myrthe Y. van, primary, Verstraelen, Tom, additional, van Lint, Freyja, additional, Bosman, Laurens P., additional, Brouwer, Remco de, additional, Proost, Virginnio, additional, Germans, Tjeerd, additional, Dickhoff, Cathelijne, additional, Schoonderwoerd, Bas, additional, Houweling, Arjan, additional, Gimeno-Blanes, Juan, additional, de Boer, Rudolf, additional, Cox, Moniek, additional, Tintelen, Peter van, additional, and Wilde, Arthur A., additional

Published
2023
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28. Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia.

Author

Laredo, Mikael, Tovia-Brodie, Oholi, Milman, Anat, Michowitz, Yoav, Roudijk, Rob RW, Peretto, Giovanni, Badenco, Nicolas, Te Riele, Anneline ASJM, Sala, Simone, Duthoit, Guillaume, Arbelo, Elena, Ninni, Sandro, Gasperetti, Alessio, van Tintelen, Peter JP, Paglino, Gabriele, Waintraub, Xavier, Andorin, Antoine, Peichl, Petr, Bosman, Laurens P, Calo, Leonardo, Giustetto, Carla, Radinovic, Andrea, Jorda, Paloma, Casado Arroyo, Ruben, Zorio, Esther, Bermúdez-Jiménez, Francisco FJ, Behr, Elijah Raphael, Havranek, Stepan, Tfelt-Hansen, Jacob, Sacher, Frédéric, Hermida, Jean-Sylvain, Nof, Eyal, Casella, Michela, Kautzner, Josef, Lacroix, Dominique, Brugada, Josep, Duru, Firat, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, Belhassen, Bernard, Laredo, Mikael, Tovia-Brodie, Oholi, Milman, Anat, Michowitz, Yoav, Roudijk, Rob RW, Peretto, Giovanni, Badenco, Nicolas, Te Riele, Anneline ASJM, Sala, Simone, Duthoit, Guillaume, Arbelo, Elena, Ninni, Sandro, Gasperetti, Alessio, van Tintelen, Peter JP, Paglino, Gabriele, Waintraub, Xavier, Andorin, Antoine, Peichl, Petr, Bosman, Laurens P, Calo, Leonardo, Giustetto, Carla, Radinovic, Andrea, Jorda, Paloma, Casado Arroyo, Ruben, Zorio, Esther, Bermúdez-Jiménez, Francisco FJ, Behr, Elijah Raphael, Havranek, Stepan, Tfelt-Hansen, Jacob, Sacher, Frédéric, Hermida, Jean-Sylvain, Nof, Eyal, Casella, Michela, Kautzner, Josef, Lacroix, Dominique, Brugada, Josep, Duru, Firat, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, and Belhassen, Bernard

Abstract

Little is known about patients with right bundle branch block (RBBB)-ventricular tachycardia (VT) and arrhythmogenic cardiomyopathy (ACM). Our aims were: (i) to describe electrocardiogram (ECG) characteristics of sinus rhythm (SR) and VT; (ii) to correlate SR with RBBB-VT ECGs; and (iii) to compare VT ECGs with electro-anatomic mapping (EAM) data., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2023

29. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Author

Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, Ingles, Jodie, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, and Ingles, Jodie

Abstract

Background: Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of DSPtv cardiomyopathy. Methods: Individuals with DSPtv and any cardiac phenotype, and their gene-positive family members were included from multiple international centers. Clinical data and family history information were collected. Event-free survival from ventricular arrhythmia was assessed. Variant location was compared between cases and controls, and literature review of reported DSPtv performed. Results: There were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with a DSPtv, of which 146 were considered clinically affected. Ventricular arrhythmia (sudden cardiac arrest, sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator therapy) occurred in 56 (33%) individuals. DSPtv location and proband status were independent risk factors for ventricular arrhythmia. Further, gene region was important with variants in cases (cohort n=98; Clinvar n=167) more likely to occur in the regions resulting in nonsense mediated decay of both major DSP isoforms, compared with n=124 genome aggregation database control variants (148 [83.6%] versus 29 [16.4%]; P<0.0001). Conclusions: In the largest series of individuals with DSPtv, we demonstrate that variant location is a novel risk factor for ventricular arrhythmia, can inform variant interpretation, and provide critical insights to allow for precision-based clinical management.

Published
2023

30. The added value of abnormal regional myocardial function for risk prediction in arrhythmogenic right ventricular cardiomyopathy

Author

Team Onderzoek, Arts Assistenten Cardiologie, Circulatory Health, Team Medisch, Kirkels, Feddo P, Rootwelt-Norberg, Christine, Bosman, Laurens P, Aabel, Eivind W, Muller, Steven A, Castrini, Anna I, Taha, Karim, van Osta, Nick, Lie, Øyvind H, Asselbergs, Folkert W, Lumens, Joost, Te Riele, Anneline S J M, Hasselberg, Nina E, Cramer, Maarten J, Haugaa, Kristina H, Teske, Arco J, Team Onderzoek, Arts Assistenten Cardiologie, Circulatory Health, Team Medisch, Kirkels, Feddo P, Rootwelt-Norberg, Christine, Bosman, Laurens P, Aabel, Eivind W, Muller, Steven A, Castrini, Anna I, Taha, Karim, van Osta, Nick, Lie, Øyvind H, Asselbergs, Folkert W, Lumens, Joost, Te Riele, Anneline S J M, Hasselberg, Nina E, Cramer, Maarten J, Haugaa, Kristina H, and Teske, Arco J

Published
2023

31. Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Team Onderzoek, Arts Assistenten Cardiologie, Onderzoek Precision medicine, Genetica Klinische Genetica, Circulatory Health, Gezonde Vaten, Genetica Groep Van Tintelen, Cancer, Child Health, Team Medisch, Muller, Steven A, Gasperetti, Alessio, Bosman, Laurens P, Schmidt, Amand F, Baas, Annette F, Amin, Ahmad S, Houweling, Arjan C, Wilde, Arthur A M, Compagnucci, Paolo, Targetti, Mattia, Casella, Michela, Calò, Leonardo, Tondo, Claudio, van der Harst, Pim, Asselbergs, Folkert W, van Tintelen, J Peter, Oerlemans, Marish I F J, Te Riele, Anneline S J M, Team Onderzoek, Arts Assistenten Cardiologie, Onderzoek Precision medicine, Genetica Klinische Genetica, Circulatory Health, Gezonde Vaten, Genetica Groep Van Tintelen, Cancer, Child Health, Team Medisch, Muller, Steven A, Gasperetti, Alessio, Bosman, Laurens P, Schmidt, Amand F, Baas, Annette F, Amin, Ahmad S, Houweling, Arjan C, Wilde, Arthur A M, Compagnucci, Paolo, Targetti, Mattia, Casella, Michela, Calò, Leonardo, Tondo, Claudio, van der Harst, Pim, Asselbergs, Folkert W, van Tintelen, J Peter, Oerlemans, Marish I F J, and Te Riele, Anneline S J M

Published
2023

32. Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy

Author

Genetica Groep Van Tintelen, Genetica Klinische Genetica, Arts Assistenten Cardiologie, Team Medisch, Cancer, Child Health, Circulatory Health, van Lint, Freyja H M, Hassanzada, Fahima, Verstraelen, Tom E, Wang, Weijia, Bosman, Laurens P, van der Zwaag, Paul A, Oomen, Toon, Calkins, Hugh, Murray, Brittney, Tichnell, Crystal, Beuren, Thais M A, Asselbergs, Folkert W, Houweling, Arjan, van den Berg, Maarten P, Wilde, Arthur A M, James, Cynthia A, van Tintelen, J Peter, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Arts Assistenten Cardiologie, Team Medisch, Cancer, Child Health, Circulatory Health, van Lint, Freyja H M, Hassanzada, Fahima, Verstraelen, Tom E, Wang, Weijia, Bosman, Laurens P, van der Zwaag, Paul A, Oomen, Toon, Calkins, Hugh, Murray, Brittney, Tichnell, Crystal, Beuren, Thais M A, Asselbergs, Folkert W, Houweling, Arjan, van den Berg, Maarten P, Wilde, Arthur A M, James, Cynthia A, and van Tintelen, J Peter

Published
2023

33. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Author

Arts Assistenten Cardiologie, Genetica, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Circulatory Health, Cancer, Child Health, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, Ingles, Jodie, Arts Assistenten Cardiologie, Genetica, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Circulatory Health, Cancer, Child Health, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, and Ingles, Jodie

Published
2023

34. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Author

Arts Assistenten Cardiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Cardiologie, Team Medisch, Onderzoek Precision medicine, Genetica Groep Van Tintelen, Cancer, Child Health, Nagyova, Emilia, Hoorntje, Edgar T, Rijdt, Wouter P Te, Bosman, Laurens P, Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M, Duru, Firat, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Dennis, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A M, Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F, van den Berg, Maarten P, Asselbergs, Folkert W, James, Cynthia A, Jongbloed, Jan D H, Harakalova, Magdalena, van Tintelen, J Peter, Arts Assistenten Cardiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Cardiologie, Team Medisch, Onderzoek Precision medicine, Genetica Groep Van Tintelen, Cancer, Child Health, Nagyova, Emilia, Hoorntje, Edgar T, Rijdt, Wouter P Te, Bosman, Laurens P, Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M, Duru, Firat, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Dennis, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A M, Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F, van den Berg, Maarten P, Asselbergs, Folkert W, James, Cynthia A, Jongbloed, Jan D H, Harakalova, Magdalena, and van Tintelen, J Peter

Published
2023

35. Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia

Author

Arts Assistenten Cardiologie, Onderzoek Precision medicine, Circulatory Health, Genetica, Cancer, Child Health, Team Medisch, Laredo, Mikael, Tovia-Brodie, Oholi, Milman, Anat, Michowitz, Yoav, Roudijk, Rob W, Peretto, Giovanni, Badenco, Nicolas, Te Riele, Anneline S J M, Sala, Simone, Duthoit, Guillaume, Arbelo, Elena, Ninni, Sandro, Gasperetti, Alessio, van Tintelen, J Peter, Paglino, Gabriele, Waintraub, Xavier, Andorin, Antoine, Peichl, Petr, Bosman, Laurens P, Calo, Leonardo, Giustetto, Carla, Radinovic, Andrea, Jorda, Paloma, Casado-Arroyo, Ruben, Zorio, Esther, Bermúdez-Jiménez, Francisco J, Behr, Elijah R, Havranek, Stepan, Tfelt-Hansen, Jacob, Sacher, Frederic, Hermida, Jean-Sylvain, Nof, Eyal, Casella, Michela, Kautzner, Josef, Lacroix, Dominique, Brugada, Josep, Duru, Firat, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, Belhassen, Bernard, Arts Assistenten Cardiologie, Onderzoek Precision medicine, Circulatory Health, Genetica, Cancer, Child Health, Team Medisch, Laredo, Mikael, Tovia-Brodie, Oholi, Milman, Anat, Michowitz, Yoav, Roudijk, Rob W, Peretto, Giovanni, Badenco, Nicolas, Te Riele, Anneline S J M, Sala, Simone, Duthoit, Guillaume, Arbelo, Elena, Ninni, Sandro, Gasperetti, Alessio, van Tintelen, J Peter, Paglino, Gabriele, Waintraub, Xavier, Andorin, Antoine, Peichl, Petr, Bosman, Laurens P, Calo, Leonardo, Giustetto, Carla, Radinovic, Andrea, Jorda, Paloma, Casado-Arroyo, Ruben, Zorio, Esther, Bermúdez-Jiménez, Francisco J, Behr, Elijah R, Havranek, Stepan, Tfelt-Hansen, Jacob, Sacher, Frederic, Hermida, Jean-Sylvain, Nof, Eyal, Casella, Michela, Kautzner, Josef, Lacroix, Dominique, Brugada, Josep, Duru, Firat, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, and Belhassen, Bernard

Published
2023

36. Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia

Author

Laredo, Mikael; https://orcid.org/0000-0002-7326-2656, Tovia-Brodie, Oholi, Milman, Anat, Michowitz, Yoav, Roudijk, Rob W, Peretto, Giovanni, Badenco, Nicolas, Te Riele, Anneline S J M, Sala, Simone, Duthoit, Guillaume, Arbelo, Elena, Ninni, Sandro, Gasperetti, Alessio, van Tintelen, J Peter, Paglino, Gabriele, Waintraub, Xavier, Andorin, Antoine, Peichl, Petr, Bosman, Laurens P, Calo, Leonardo, Giustetto, Carla, Radinovic, Andrea, Jorda, Paloma, Casado-Arroyo, Ruben, Zorio, Esther, Bermúdez-Jiménez, Francisco J, Behr, Elijah R, Havranek, Stepan, Tfelt-Hansen, Jacob, Sacher, Frederic, Duru, Firat; https://orcid.org/0000-0002-4748-0158, et al, Laredo, Mikael; https://orcid.org/0000-0002-7326-2656, Tovia-Brodie, Oholi, Milman, Anat, Michowitz, Yoav, Roudijk, Rob W, Peretto, Giovanni, Badenco, Nicolas, Te Riele, Anneline S J M, Sala, Simone, Duthoit, Guillaume, Arbelo, Elena, Ninni, Sandro, Gasperetti, Alessio, van Tintelen, J Peter, Paglino, Gabriele, Waintraub, Xavier, Andorin, Antoine, Peichl, Petr, Bosman, Laurens P, Calo, Leonardo, Giustetto, Carla, Radinovic, Andrea, Jorda, Paloma, Casado-Arroyo, Ruben, Zorio, Esther, Bermúdez-Jiménez, Francisco J, Behr, Elijah R, Havranek, Stepan, Tfelt-Hansen, Jacob, Sacher, Frederic, Duru, Firat; https://orcid.org/0000-0002-4748-0158, and et al

Abstract

AIMS: Little is known about patients with right bundle branch block (RBBB)-ventricular tachycardia (VT) and arrhythmogenic cardiomyopathy (ACM). Our aims were: (i) to describe electrocardiogram (ECG) characteristics of sinus rhythm (SR) and VT; (ii) to correlate SR with RBBB-VT ECGs; and (iii) to compare VT ECGs with electro-anatomic mapping (EAM) data. METHODS AND RESULTS: From the European Survey on ACM, 70 patients with spontaneous RBBB-VT were included. Putative left ventricular (LV) sites of origin (SOOs) were estimated with a VT-axis-derived methodology and confirmed by EAM data when available. Overall, 49 (70%) patients met definite Task Force Criteria. Low QRS voltage predominated in lateral leads (n = 37, 55%), but QRS fragmentation was more frequent in inferior leads (n = 15, 23%). T-wave inversion (TWI) was equally frequent in inferior (n = 28, 42%) and lateral (n = 27, 40%) leads. TWI in inferior leads was associated with reduced LV ejection fraction (LVEF; 46 ± 10 vs. 53 ± 8, P = 0.02). Regarding SOOs, the inferior wall harboured 31 (46%) SOOs, followed by the lateral wall (n = 17, 25%), the anterior wall (n = 15, 22%), and the septum (n = 4, 6%). EAM data were available for 16 patients and showed good concordance with the putative SOOs. In all patients with superior-axis RBBB-VT who underwent endo-epicardial VT activation mapping, VT originated from the LV. CONCLUSIONS: In patients with ACM and RBBB-VT, RBBB-VTs originated mainly from the inferior and lateral LV walls. SR depolarization and repolarization abnormalities were frequent and associated with underlying variants.

Published
2023

37. Swept-3-D Ultrasound Imaging of the Mouse Brain Using a Continuously Moving 1-D-Array—Part II: Functional Imaging

Author

Generowicz, Bastian S., Dijkhuizen, Stephanie, Bosman, Laurens W. J., De Zeeuw, Chris I., Koekkoek, Sebastiaan K. E., and Kruizinga, Pieter

Abstract

Functional ultrasound (fUS) using a 1-D-array transducer normally is insufficient to capture volumetric functional activity due to being restricted to imaging a single brain slice at a time. Typically, for volumetric fUS, functional recordings are repeated many times as the transducer is moved to a new location after each recording, resulting in a nonunique average mapping of the brain response and long scan times. Our objective was to perform volumetric 3-D fUS in an efficient and cost-effective manner. This was achieved by mounting a 1-D-array transducer to a high-precision motorized linear stage and continuously translating over the mouse brain in a sweeping manner. We show how the speed at which the 1-D-array is translated over the brain affects the sampling of the hemodynamic response (HR) during visual stimulation as well as the quality of the resulting power Doppler image (PDI). Functional activation maps were compared between stationary recordings, where only one functional slice is obtained for every recording, and our swept-3-D method, where volumetric fUS was achieved in a single functional recording. The results show that the activation maps obtained with our method closely resemble those obtained during a stationary recording for that same location, while our method is not restricted to functional imaging of a single slice. Lastly, a mouse brain subvolume of ~6 mm is scanned at a volume rate of 1.5 s per volume, with a functional PDI reconstructed every $200~\mu \text{m}$ , highlighting swept-3-D’s potential for volumetric fUS. Our method provides an affordable alternative to volumetric fUS using 2-D-matrix transducers, with a high SNR due to using a fully sampled 1-D-array transducer, and without the need to repeat functional measurements for every 2-D slice, as is most often the case when using a 1-D-array. This places our swept-3-D method as a potentially valuable addition to conventional 2-D fUS, especially when investigating whole-brain functional connectivity, or when shorter recording durations are desired.

Published
2023
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38. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant

Author

Hoorntje, Edgar T., primary, Burns, Charlotte, additional, Marsili, Luisa, additional, Corden, Ben, additional, Parikh, Victoria N., additional, te Meerman, Gerard J., additional, Gray, Belinda, additional, Adiyaman, Ahmet, additional, Bagnall, Richard D., additional, Barge-Schaapveld, Daniela Q.C.M., additional, van den Berg, Maarten P., additional, Bootsma, Marianne, additional, Bosman, Laurens P., additional, Correnti, Gemma, additional, Duflou, Johan, additional, Eppinga, Ruben N., additional, Fatkin, Diane, additional, Fietz, Michael, additional, Haan, Eric, additional, Jongbloed, Jan D.H., additional, Hauer, Arnaud D., additional, Lam, Lien, additional, van Lint, Freyja H.M., additional, Lota, Amrit, additional, Marcelis, Carlo, additional, McCarthy, Hugh J., additional, van Mil, Anneke M., additional, Oldenburg, Rogier A., additional, Pachter, Nicholas, additional, Planken, R. Nils, additional, Reuter, Chloe, additional, Semsarian, Christopher, additional, van der Smagt, Jasper J., additional, Thompson, Tina, additional, Vohra, Jitendra, additional, Volders, Paul G.A., additional, van Waning, Jaap I., additional, Whiffin, Nicola, additional, van den Wijngaard, Arthur, additional, Amin, Ahmad S., additional, Wilde, Arthur A.M., additional, van Woerden, Gijs, additional, Yeates, Laura, additional, Zentner, Dominica, additional, Ashley, Euan A., additional, Wheeler, Matthew T., additional, Ware, James S., additional, van Tintelen, J. Peter, additional, and Ingles, Jodie, additional

Published
2023
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39. Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia

Author

Laredo, Mikael, primary, Tovia-Brodie, Oholi, additional, Milman, Anat, additional, Michowitz, Yoav, additional, Roudijk, Rob W, additional, Peretto, Giovanni, additional, Badenco, Nicolas, additional, te Riele, Anneline S J M, additional, Sala, Simone, additional, Duthoit, Guillaume, additional, Arbelo, Elena, additional, Ninni, Sandro, additional, Gasperetti, Alessio, additional, van Tintelen, J Peter, additional, Paglino, Gabriele, additional, Waintraub, Xavier, additional, Andorin, Antoine, additional, Peichl, Petr, additional, Bosman, Laurens P, additional, Calo, Leonardo, additional, Giustetto, Carla, additional, Radinovic, Andrea, additional, Jorda, Paloma, additional, Casado-Arroyo, Ruben, additional, Zorio, Esther, additional, Bermúdez-Jiménez, Francisco J, additional, Behr, Elijah R, additional, Havranek, Stepan, additional, Tfelt-Hansen, Jacob, additional, Sacher, Frederic, additional, Hermida, Jean-Sylvain, additional, Nof, Eyal, additional, Casella, Michela, additional, Kautzner, Josef, additional, Lacroix, Dominique, additional, Brugada, Josep, additional, Duru, Firat, additional, Bella, Paolo Della, additional, Gandjbakhch, Estelle, additional, Hauer, Richard, additional, and Belhassen, Bernard, additional

Published
2023
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40. Programmed Ventricular Stimulation as an Additional Primary Prevention Risk Stratification Tool in Arrhythmogenic Right Ventricular Cardiomyopathy: A Multinational Study

Author

Gasperetti, Alessio, primary, Carrick, Richard T., additional, Costa, Sarah, additional, Compagnucci, Paolo, additional, Bosman, Laurens P., additional, Chivulescu, Monica, additional, Tichnell, Crystal, additional, Murray, Brittney, additional, Tandri, Harikrishna, additional, Tadros, Rafik, additional, Rivard, Lena, additional, van den Berg, Maarten P., additional, Zeppenfeld, Katja, additional, Wilde, Arthur A.M., additional, Pompilio, Giulio, additional, Carbucicchio, Corrado, additional, Dello Russo, Antonio, additional, Casella, Michela, additional, Svensson, Anneli, additional, Brunckhorst, Corinna B., additional, van Tintelen, J. Peter, additional, Platonov, Pyotr G., additional, Haugaa, Kristina H., additional, Duru, Firat, additional, te Riele, Anneline S.J.M., additional, Khairy, Paul, additional, Tondo, Claudio, additional, Calkins, Hugh, additional, James, Cynthia A., additional, Saguner, Ardan M., additional, and Cadrin-Tourigny, Julia, additional

Published
2022
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43. Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator

Author

Jordà, Paloma, primary, Bosman, Laurens P, additional, Gasperetti, Alessio, additional, Mazzanti, Andrea, additional, Gourraud, Jean Baptiste, additional, Davies, Brianna, additional, Frederiksen, Tanja Charlotte, additional, Weidmann, Zoraida Moreno, additional, Di Marco, Andrea, additional, Roberts, Jason D, additional, MacIntyre, Ciorsti, additional, Seifer, Colette, additional, Delinière, Antoine, additional, Alqarawi, Wael, additional, Kukavica, Deni, additional, Minois, Damien, additional, Trancuccio, Alessandro, additional, Arnaud, Marine, additional, Targetti, Mattia, additional, Martino, Annamaria, additional, Oliviero, Giada, additional, Pipilas, Daniel C, additional, Carbucicchio, Corrado, additional, Compagnucci, Paolo, additional, Dello Russo, Antonio, additional, Olivotto, Iacopo, additional, Calò, Leonardo, additional, Lubitz, Steven A, additional, Cutler, Michael J, additional, Chevalier, Philippe, additional, Arbelo, Elena, additional, Priori, Silvia Giuliana, additional, Healey, Jeffrey S, additional, Calkins, Hugh, additional, Casella, Michela, additional, Jensen, Henrik Kjærulf, additional, Tondo, Claudio, additional, Tadros, Rafik, additional, James, Cynthia A, additional, Krahn, Andrew D, additional, and Cadrin-Tourigny, Julia, additional

Published
2022
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45. A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy

Author

Cadrin-Tourigny, Julia, Bosman, Laurens P., Nozza, Anna, Wang, Weijia, Tadros, Rafik, Bhonsale, Aditya, Bourfiss, Mimount, Fortier, Annik, Lie, Oyvind H., Saguner, Ardan M., Svensson, Anneli, Andorin, Antoine, Tichnell, Crystal, Murray, Brittney, Zeppenfeld, Katja, van den Berg, Maarten P., Asselbergs, Folkert W., Wilde, Arthur A. M., Krahn, Andrew D., Talajic, Mario, Rivard, Lena, Chelko, Stephen, Zimmerman, Stefan L., Kamel, Ihab R., Crosson, Jane E., Judge, Daniel P., Yap, Sing-Chien, van der Heijden, Jeroen F., Tandri, Harikrishna, Jongbloed, Jan D. H., Guertin, Marie-Claude, van Tintelen, J. Peter, Platonov, Pyotr G., Duru, Firat, Haugaa, Kristina H., Khairy, Paul, Hauer, Richard N. W., Calkins, Hugh, te Riele, Anneline S. J. M., James, Cynthia A., Cadrin-Tourigny, Julia, Bosman, Laurens P., Nozza, Anna, Wang, Weijia, Tadros, Rafik, Bhonsale, Aditya, Bourfiss, Mimount, Fortier, Annik, Lie, Oyvind H., Saguner, Ardan M., Svensson, Anneli, Andorin, Antoine, Tichnell, Crystal, Murray, Brittney, Zeppenfeld, Katja, van den Berg, Maarten P., Asselbergs, Folkert W., Wilde, Arthur A. M., Krahn, Andrew D., Talajic, Mario, Rivard, Lena, Chelko, Stephen, Zimmerman, Stefan L., Kamel, Ihab R., Crosson, Jane E., Judge, Daniel P., Yap, Sing-Chien, van der Heijden, Jeroen F., Tandri, Harikrishna, Jongbloed, Jan D. H., Guertin, Marie-Claude, van Tintelen, J. Peter, Platonov, Pyotr G., Duru, Firat, Haugaa, Kristina H., Khairy, Paul, Hauer, Richard N. W., Calkins, Hugh, te Riele, Anneline S. J. M., and James, Cynthia A.

Abstract

Aims Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is characterized by ventricular arrhythmias (VAs) and sudden cardiac death (SCD). We aimed to develop a model for individualized prediction of incident VA/SCD in ARVC patients. Methods and results Five hundred and twenty-eight patients with a definite diagnosis and no history of sustained VAs/SCD at baseline, aged 38.2 +/- 15.5 years, 44.7% male, were enrolled from five registries in North America and Europe. Over 4.83 (interquartile range 2.44-9.33) years of follow-up, 146 (27.7%) experienced sustained VA, defined as SCD, aborted SCD, sustained ventricular tachycardia, or appropriate implantable cardioverter-defibrillator (ICD) therapy. A prediction model estimating annual VA risk was developed using Cox regression with internal validation. Eight potential predictors were pre-specified: age, sex, cardiac syncope in the prior 6 months, non-sustained ventricular tachycardia, number of premature ventricular complexes in 24 h, number of leads with T-wave inversion, and right and left ventricular ejection fractions (LVEFs). All except LVEF were retained in the final model. The model accurately distinguished patients with and without events, with an optimism-corrected C-index of 0.77 [95% confidence interval (CI) 0.73-0.81] and minimal over-optimism [calibration slope of 0.93 (95% CI 0.92-0.95)]. By decision curve analysis, the clinical benefit of the model was superior to a current consensus-based ICD placement algorithm with a 20.3% reduction of ICD placements with the same proportion of protected patients (P < 0.001). Conclusion Using the Largest cohort of patients with ARVC and no prior VA, a prediction model using readily available clinical parameters was devised to estimate VA risk and guide decisions regarding primary prevention ICDs (www.arvcrisk.com)., Funding Agencies|Canadian Heart Rhythm Society George Mines Traveling Fellowship; Montreal Heart Institute Foundation; Fondation LeducqLeducq Foundation [16 CVD 02]; Dutch Heart FoundationNetherlands Heart Foundation [2015T058, CVON2015-12 eDETECT, 2012-10 PREDICT]; Netherlands Organisation for Scientific ResearchNetherlands Organization for Scientific Research (NWO) [040.11.586]; Netherlands Heart Institute [06901]; Swiss National Science FoundationSwiss National Science Foundation (SNSF)European Commission [320030_160327]; UMC Utrecht 2017 Alexandre Suerman Stipend; UMC Utrecht Fellowship Clinical Research Talent; European Unions Horizon 2020 research and innovation program under the ERA-NET Co-fund action [680969]; Dr Francis P. Chiaramonte Private Foundation; Leyla Erkan Family Fund for ARVD Research; Dr Satish, Rupal, and Robin Shah ARVD Fund at Johns Hopkins; Bogle Foundation; Healing Hearts Foundation; Campanella family; Patrick J. Harrison Family; Peter French Memorial Foundation; Wilmerding Endowments; Georg und Bertha Schwyzer-Winiker Foundation; Baugarten Foundation; Swiss Heart Foundation; Leonie-Wild Foundation; Marvin and Philippa Carsley Chair of Medicine; UCL Hospitals NIHR Biomedical Research Centre

Published
2022
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46. Programmed Ventricular Stimulation as an Additional Primary Prevention Risk Stratification Tool in Arrhythmogenic Right Ventricular Cardiomyopathy : A Multinational Study

Author

Gasperetti, Alessio, Carrick, Richard T., Costa, Sarah, Compagnucci, Paolo, Bosman, Laurens P., Chivulescu, Monica, Tichnell, Crystal, Murray, Brittney, Tandri, Harikrishna, Tadros, Rafik, Rivard, Lena, van den Berg, Maarten P., Zeppenfeld, Katja, Wilde, Arthur A. M., Pompilio, Giulio, Carbucicchio, Corrado, Dello Russo, Antonio, Casella, Michela, Svensson, Anneli, Brunckhorst, Corinna B., van Tintelen, J. Peter, Platonov, Pyotr G., Haugaa, Kristina H., Duru, Firat, te Riele, Anneline S. J. M., Khairy, Paul, Tondo, Claudio, Calkins, Hugh, James, Cynthia A., Saguner, Ardan M., Cadrin-Tourigny, Julia, Gasperetti, Alessio, Carrick, Richard T., Costa, Sarah, Compagnucci, Paolo, Bosman, Laurens P., Chivulescu, Monica, Tichnell, Crystal, Murray, Brittney, Tandri, Harikrishna, Tadros, Rafik, Rivard, Lena, van den Berg, Maarten P., Zeppenfeld, Katja, Wilde, Arthur A. M., Pompilio, Giulio, Carbucicchio, Corrado, Dello Russo, Antonio, Casella, Michela, Svensson, Anneli, Brunckhorst, Corinna B., van Tintelen, J. Peter, Platonov, Pyotr G., Haugaa, Kristina H., Duru, Firat, te Riele, Anneline S. J. M., Khairy, Paul, Tondo, Claudio, Calkins, Hugh, James, Cynthia A., Saguner, Ardan M., and Cadrin-Tourigny, Julia

Abstract

Background: A novel risk calculator based on clinical characteristics and noninvasive tests that predicts the onset of clinical sustained ventricular arrhythmias (VA) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been proposed and validated by recent studies. It remains unknown whether programmed ventricular stimulation (PVS) provides additional prognostic value. Methods: All patients with a definite ARVC diagnosis, no history of sustained VAs at diagnosis, and PVS performed at baseline were extracted from 6 international ARVC registries. The calculator-predicted risk for sustained VA (sustained or implantable cardioverter defibrillator treated ventricular tachycardia [VT] or fibrillation, [aborted] sudden cardiac arrest) was assessed in all patients. Independent and combined performance of the risk calculator and PVS on sustained VA were assessed during a 5-year follow-up period. Results: Two hundred eighty-eight patients (41.0 +/- 14.5 years, 55.9% male, right ventricular ejection fraction 42.5 +/- 11.1%) were enrolled. At PVS, 137 (47.6%) patients had inducible ventricular tachycardia. During a median of 5.31 [2.89-10.17] years of follow-up, 83 (60.6%) patients with a positive PVS and 37 (24.5%) with a negative PVS experienced sustained VA (P<0.001). Inducible ventricular tachycardia predicted clinical sustained VA during the 5-year follow-up and remained an independent predictor after accounting for the calculator-predicted risk (HR, 2.52 [1.58-4.02]; P<0.001). Compared with ARVC risk calculator predictions in isolation (C-statistic 0.72), addition of PVS inducibility showed improved prediction of VA events (C-statistic 0.75; log-likelihood ratio for nested models, P<0.001). PVS inducibility had a 76% [67-84] sensitivity and 68% [61-74] specificity, corresponding to log-likelihood ratios of 2.3 and 0.36 for inducible (likelihood ratio+) and noninducible (likelihood ratio-) patients, respectively. In patients wit, Funding Agencies|Leonie-Wild Foundation; Leyla Erkan Family Fund for ARVD Research; Hugh Calkins, Marvin H. Weiner, and Jacqueline J. Bernstein Cardiac Arrhythmia Center; Marvin H. Weiner, and Jacqueline J. Bernstein Cardiac Arrhythmia Center; Dr. Francis P. Chiramonte Private Foundation; Dr. Satish, Rupal, and Robin Shah ARVD Fund at Johns Hopkins; Bogle Foundation; Healing Hearts Foundation; Campanella Family; Patrick J. Harrison Family; Peter French Memorial Foundation; Wilmerding Endowments; Fondation Leducq; National Center for Advancing Translational Sciences [UL1TR001079]; Philippa and Marvin Carsley cardiology research chair; Montreal Heart Institute Foundation; Georg und Bertha Schwyzer-Winiker Foundation; Baugarten Foundation; Swiss Heart Foundation [FF17019, FF21073]; Swiss National Science Foundation [160327]; Swedish Heart Lung Foundation [20200674]; Swedish state under the Avtal om lakarutbildning och forsknin (ALF)-agreement; Netherlands Cardiovascular Research Initiative; Dutch Heart Foundation [CVON201512/2018-30]

Published
2022
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47. The prevalence of left and right bundle branch block morphology ventricular tachycardia amongst patients with arrhythmogenic cardiomyopathy and sustained ventricular tachycardia: insights from the European Survey on Arrhythmogenic Cardiomyopathy.

Author

Belhassen, Bernard, Laredo, Mikael, Roudijk, Rob W, Peretto, Giovanni, Zahavi, Guy, Sen-Chowdhry, Srijita, Badenco, Nicolas, Te Riele, Anneline S J M ASJM, Sala, Simone, Duthoit, Guillaume, van Tintelen, Peter JP, Paglino, Gabriele, Sellal, Jean-Marc, Gasperetti, Alessio, Arbelo, Elena, Andorin, Antoine, Ninni, Sandro, Rollin, Anne, Peichl, Petr, Waintraub, Xavier, Bosman, Laurens P, Pierre, Bertrand, Nof, Eyal, Miles, Chris, Tfelt-Hansen, Jacob, Protonotarios, Alexandros, Giustetto, Carla, Sacher, Frédéric, Hermida, Jean-Sylvain, Havranek, Stepan, Calo, Leonardo, Casado Arroyo, Ruben, Conte, Giulio, Letsas, Konstantinos P, Zorio, Esther, Bermúdez-Jiménez, Francisco FJ, Behr, Elijah Raphael, Beinart, Roy, Fauchier, Laurent, Kautzner, Josef, Maury, Philippe, Lacroix, Dominique, Probst, Vincent, Brugada, Josep, Duru, Firat, de Chillou, Christian, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, Milman, Anat, Belhassen, Bernard, Laredo, Mikael, Roudijk, Rob W, Peretto, Giovanni, Zahavi, Guy, Sen-Chowdhry, Srijita, Badenco, Nicolas, Te Riele, Anneline S J M ASJM, Sala, Simone, Duthoit, Guillaume, van Tintelen, Peter JP, Paglino, Gabriele, Sellal, Jean-Marc, Gasperetti, Alessio, Arbelo, Elena, Andorin, Antoine, Ninni, Sandro, Rollin, Anne, Peichl, Petr, Waintraub, Xavier, Bosman, Laurens P, Pierre, Bertrand, Nof, Eyal, Miles, Chris, Tfelt-Hansen, Jacob, Protonotarios, Alexandros, Giustetto, Carla, Sacher, Frédéric, Hermida, Jean-Sylvain, Havranek, Stepan, Calo, Leonardo, Casado Arroyo, Ruben, Conte, Giulio, Letsas, Konstantinos P, Zorio, Esther, Bermúdez-Jiménez, Francisco FJ, Behr, Elijah Raphael, Beinart, Roy, Fauchier, Laurent, Kautzner, Josef, Maury, Philippe, Lacroix, Dominique, Probst, Vincent, Brugada, Josep, Duru, Firat, de Chillou, Christian, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, and Milman, Anat

Abstract

In arrhythmogenic cardiomyopathy (ACM), sustained ventricular tachycardia (VT) typically displays a left bundle branch block (LBBB) morphology while a right bundle branch block (RBBB) morphology is rare. The present study assesses the VT morphology in ACM patients with sustained VT and their clinical and genetic characteristics., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

48. Comparing clinical performance of current implantable cardioverter-defibrillator implantation recommendations in arrhythmogenic right ventricular cardiomyopathy

Author

Bosman, Laurens P., Nielsen Gerlach, Claire L., Cadrin-Tourigny, Julia, Orgeron, Gabriela, Tichnell, Crystal, Murray, Brittney, Bourfiss, Mimount, Van Der Heijden, Jeroen F., Yap, Sing Chien, Zeppenfeld, Katja, Van Den Berg, Maarten P., Wilde, Arthur A.M., Asselbergs, Folkert W., Tandri, Hariskrishna, Calkins, Hugh, Van Tintelen, J. Peter, James, Cynthia A., Te Riele, Anneline S.J.M., Bosman, Laurens P., Nielsen Gerlach, Claire L., Cadrin-Tourigny, Julia, Orgeron, Gabriela, Tichnell, Crystal, Murray, Brittney, Bourfiss, Mimount, Van Der Heijden, Jeroen F., Yap, Sing Chien, Zeppenfeld, Katja, Van Den Berg, Maarten P., Wilde, Arthur A.M., Asselbergs, Folkert W., Tandri, Hariskrishna, Calkins, Hugh, Van Tintelen, J. Peter, James, Cynthia A., and Te Riele, Anneline S.J.M.

Abstract

Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) patients have an increased risk of ventricular arrhythmias (VA). Four implantable cardioverter-defibrillator (ICD) recommendation algorithms are available The International Task Force Consensus ('ITFC'), an ITFC modification by Orgeron et al. ('mITFC'), the AHA/HRS/ACC guideline for VA management ('AHA'), and the HRS expert consensus statement ('HRS'). This study aims to validate and compare the performance of these algorithms in ARVC. Methods and results: We classified 617 definite ARVC patients (38.5 ± 15.1 years, 52.4% male, 39.2% prior sustained VA) according to four algorithms. Clinical performance was evaluated by sensitivity, specificity, ROC-analysis, and decision curve analysis for any sustained VA and for fast VA (>250 b.p.m.). During 6.4 [2.8-11.5] years follow-up, 282 (45.7%) patients experienced any sustained VA, and 63 (10.2%) fast VA. For any sustained VA, ITFC and mITFC provide higher sensitivity than AHA and HRS (94.0-97.8% vs. 76.7-83.5%), but lower specificity (15.9-32.0% vs. 42.7%-60.1%). Similarly, for fast VA, ITFC and mITFC provide higher sensitivity than AHA and HRS (95.2-97.1% vs. 76.7-78.4%) but lower specificity (42.7-43.1 vs. 76.7-78.4%). Decision curve analysis showed ITFC and mITFC to be superior for a 5-year sustained VA risk ICD indication threshold between 5-25% or 2-9% for fast VA. Conclusion: The ITFC and mITFC provide the highest protection rates, whereas AHA and HRS decrease unnecessary ICD placements. ITFC or mITFC should be used if we consider the 5-year threshold for ICD indication to lie within 5-25% for sustained VA or 2-9% for fast VA. These data will inform decision-making for ICD placement in ARVC.

Published
2022

49. The prevalence of left and right bundle branch block morphology ventricular tachycardia amongst patients with arrhythmogenic cardiomyopathy and sustained ventricular tachycardia:insights from the European Survey on Arrhythmogenic Cardiomyopathy

Author

Belhassen, Bernard, Laredo, Mikael, Roudijk, Rob W, Peretto, Giovanni, Zahavi, Guy, Sen-Chowdhry, Srijita, Badenco, Nicolas, Te Riele, Anneline S J M, Sala, Simone, Duthoit, Guillaume, van Tintelen, J Peter, Paglino, Gabriele, Sellal, Jean-Marc, Gasperetti, Alessio, Arbelo, Elena, Andorin, Antoine, Ninni, Sandro, Rollin, Anne, Peichl, Petr, Waintraub, Xavier, Bosman, Laurens P, Pierre, Bertrand, Nof, Eyal, Miles, Chris, Tfelt-Hansen, Jacob, Protonotarios, Alexandros, Giustetto, Carla, Sacher, Frederic, Hermida, Jean-Sylvain, Havranek, Stepan, Calo, Leonardo, Casado-Arroyo, Ruben, Conte, Giulio, Letsas, Konstantinos P, Zorio, Esther, Bermúdez-Jiménez, Francisco J, Behr, Elijah R, Beinart, Roy, Fauchier, Laurent, Kautzner, Josef, Maury, Philippe, Lacroix, Dominique, Probst, Vincent, Brugada, Josep, Duru, Firat, Chillou, Christian de, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, Milman, Anat, Belhassen, Bernard, Laredo, Mikael, Roudijk, Rob W, Peretto, Giovanni, Zahavi, Guy, Sen-Chowdhry, Srijita, Badenco, Nicolas, Te Riele, Anneline S J M, Sala, Simone, Duthoit, Guillaume, van Tintelen, J Peter, Paglino, Gabriele, Sellal, Jean-Marc, Gasperetti, Alessio, Arbelo, Elena, Andorin, Antoine, Ninni, Sandro, Rollin, Anne, Peichl, Petr, Waintraub, Xavier, Bosman, Laurens P, Pierre, Bertrand, Nof, Eyal, Miles, Chris, Tfelt-Hansen, Jacob, Protonotarios, Alexandros, Giustetto, Carla, Sacher, Frederic, Hermida, Jean-Sylvain, Havranek, Stepan, Calo, Leonardo, Casado-Arroyo, Ruben, Conte, Giulio, Letsas, Konstantinos P, Zorio, Esther, Bermúdez-Jiménez, Francisco J, Behr, Elijah R, Beinart, Roy, Fauchier, Laurent, Kautzner, Josef, Maury, Philippe, Lacroix, Dominique, Probst, Vincent, Brugada, Josep, Duru, Firat, Chillou, Christian de, Bella, Paolo Della, Gandjbakhch, Estelle, Hauer, Richard, and Milman, Anat

Abstract

AIMS: In arrhythmogenic cardiomyopathy (ACM), sustained ventricular tachycardia (VT) typically displays a left bundle branch block (LBBB) morphology while a right bundle branch block (RBBB) morphology is rare. The present study assesses the VT morphology in ACM patients with sustained VT and their clinical and genetic characteristics.METHODS AND RESULTS: Twenty-six centres from 11 European countries provided information on 954 ACM patients who had ≥1 episode of sustained VT spontaneously documented during patients' clinical course. Arrhythmogenic cardiomyopathy was defined according to the 2010 Task Force Criteria, and VT morphology according to the QRS pattern in V1. Overall, 882 (92.5%) patients displayed LBBB-VT alone and 72 (7.5%) RBBB-VT [alone in 42 (4.4%) or in combination with LBBB-VT in 30 (3.1%)]. Male sex prevalence was 79.3%, 88.1%, and 56.7% in the LBBB-VT, RBBB-VT, and LBBB + RBBB-VT groups, respectively (P = 0.007). First RBBB-VT occurred 5 years after the first LBBB-VT (46.5 ± 14.4 vs 41.1 ± 15.8 years, P = 0.011). An implanted cardioverter-defibrillator was more frequently implanted in the RBBB-VT (92.9%) and the LBBB + RBBB-VT groups (90%) than in the LBBB-VT group (68.1%) (P < 0.001). Mutations in PKP2 predominated in the LBBB-VT (65.2%) and the LBBB + RBBB-VT (41.7%) groups while DSP mutations predominated in the RBBB-VT group (45.5%). By multivariable analysis, female sex was associated with LBBB + RBBB-VT (P = 0.011) while DSP mutations were associated with RBBB-VT (P < 0.001). After a median follow-up of 103 (51-185) months, death occurred in 106 (11.1%) patients with no intergroup difference (P = 0.176).CONCLUSION: RBBB-VT accounts for a significant proportion of sustained VTs in ACM. Sex and type of pathogenic mutations were associated with VT type, female sex with LBBB + RBBB-VT, and DSP mutation with RBBB-VT.

Published
2022

50. A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy

Author

Arts Assistenten Cardiologie, Cardiologie zorg, Team Medisch, Circulatory Health, Genetica Groep Van Tintelen, Cancer, Child Health, Genetica, Onderzoek Precision medicine, Cadrin-Tourigny, Julia, Bosman, Laurens P., Nozza, Anna, Wang, Weijia, Tadros, Rafik, Bhonsale, Aditya, Bourfiss, Mimount, Fortier, Annik, Lie, Øyvind H., Saguner, Ardan M., Svensson, Anneli, Andorin, Antoine, Tichnell, Crystal, Murray, Brittney, Zeppenfeld, Katja, Van Den Berg, Maarten P., Asselbergs, Folkert W., Wilde, Arthur A.M., Krahn, Andrew D., Talajic, Mario, Rivard, Lena, Chelko, Stephen, Zimmerman, Stefan L., Kamel, Ihab R., Crosson, Jane E., Judge, Daniel P., Yap, Sing Chien, Van Der Heijden, Jeroen F., Tandri, Harikrishna, Jongbloed, Jan D.H., Guertin, Marie Claude, Van Tintelen, J. Peter, Platonov, Pyotr G., Duru, Firat, Haugaa, Kristina H., Khairy, Paul, Hauer, Richard N.W., Calkins, Hugh, Te Riele, Anneline S.J.M., James, Cynthia A., Arts Assistenten Cardiologie, Cardiologie zorg, Team Medisch, Circulatory Health, Genetica Groep Van Tintelen, Cancer, Child Health, Genetica, Onderzoek Precision medicine, Cadrin-Tourigny, Julia, Bosman, Laurens P., Nozza, Anna, Wang, Weijia, Tadros, Rafik, Bhonsale, Aditya, Bourfiss, Mimount, Fortier, Annik, Lie, Øyvind H., Saguner, Ardan M., Svensson, Anneli, Andorin, Antoine, Tichnell, Crystal, Murray, Brittney, Zeppenfeld, Katja, Van Den Berg, Maarten P., Asselbergs, Folkert W., Wilde, Arthur A.M., Krahn, Andrew D., Talajic, Mario, Rivard, Lena, Chelko, Stephen, Zimmerman, Stefan L., Kamel, Ihab R., Crosson, Jane E., Judge, Daniel P., Yap, Sing Chien, Van Der Heijden, Jeroen F., Tandri, Harikrishna, Jongbloed, Jan D.H., Guertin, Marie Claude, Van Tintelen, J. Peter, Platonov, Pyotr G., Duru, Firat, Haugaa, Kristina H., Khairy, Paul, Hauer, Richard N.W., Calkins, Hugh, Te Riele, Anneline S.J.M., and James, Cynthia A.

Published
2022

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