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16 results on '"Peter van Tintelen"'

1. ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy

Author

Cardiologie, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Regenerative Medicine and Stem Cells, Team Medisch, Team Onderzoek, van de Leur, Rutger R., de Brouwer, Remco, Bleijendaal, Hidde, Verstraelen, Tom E., Mahmoud, Belend, Perez-Matos, Ana, Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan, van der Zwaag, Paul A., Cox, Moniek G.P.J., Peter van Tintelen, J., te Riele, Anneline S.J.M., van den Berg, Maarten P., Wilde, Arthur A.M., Doevendans, Pieter A., de Boer, Rudolf A., van Es, René, Cardiologie, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Regenerative Medicine and Stem Cells, Team Medisch, Team Onderzoek, van de Leur, Rutger R., de Brouwer, Remco, Bleijendaal, Hidde, Verstraelen, Tom E., Mahmoud, Belend, Perez-Matos, Ana, Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan, van der Zwaag, Paul A., Cox, Moniek G.P.J., Peter van Tintelen, J., te Riele, Anneline S.J.M., van den Berg, Maarten P., Wilde, Arthur A.M., Doevendans, Pieter A., de Boer, Rudolf A., and van Es, René

Published
2024

2. Diagnostic value of late gadolinium enhancement at cardiovascular magnetic resonance to distinguish arrhythmogenic right ventricular cardiomyopathy from differentials

Author

Onderzoek Precision medicine, Team Onderzoek, Team Medisch, Circulatory Health, Genetica Sectie Genoomdiagnostiek, MS Radiologie, Cancer, Gezonde Vaten, Genetica Groep Van Tintelen, Child Health, Researchgr. Hart-brein as., Brain, Rekker, Lian Y, Muller, Steven A, Gasperetti, Alessio, Bourfiss, Mimount, Oerlemans, Marish Ifj, Cramer, Maarten J, Zimmerman, Stefan L, Dooijes, Dennis, Schalkx, Hanke, van der Harst, Pim, James, Cynthia A, Peter van Tintelen, J, Guglielmo, Marco, Velthuis, Birgitta K, Te Riele, Anneline Sjm, Onderzoek Precision medicine, Team Onderzoek, Team Medisch, Circulatory Health, Genetica Sectie Genoomdiagnostiek, MS Radiologie, Cancer, Gezonde Vaten, Genetica Groep Van Tintelen, Child Health, Researchgr. Hart-brein as., Brain, Rekker, Lian Y, Muller, Steven A, Gasperetti, Alessio, Bourfiss, Mimount, Oerlemans, Marish Ifj, Cramer, Maarten J, Zimmerman, Stefan L, Dooijes, Dennis, Schalkx, Hanke, van der Harst, Pim, James, Cynthia A, Peter van Tintelen, J, Guglielmo, Marco, Velthuis, Birgitta K, and Te Riele, Anneline Sjm

Published
2024

3. ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy

Author

van de Leur, Rutger R., de Brouwer, Remco, Bleijendaal, Hidde, Verstraelen, Tom E., Mahmoud, Belend, Perez-Matos, Ana, Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan, van der Zwaag, Paul A., Cox, Moniek G.P.J., Peter van Tintelen, J., te Riele, Anneline S.J.M., van den Berg, Maarten P., Wilde, Arthur A.M., Doevendans, Pieter A., de Boer, Rudolf A., van Es, René, van de Leur, Rutger R., de Brouwer, Remco, Bleijendaal, Hidde, Verstraelen, Tom E., Mahmoud, Belend, Perez-Matos, Ana, Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan, van der Zwaag, Paul A., Cox, Moniek G.P.J., Peter van Tintelen, J., te Riele, Anneline S.J.M., van den Berg, Maarten P., Wilde, Arthur A.M., Doevendans, Pieter A., de Boer, Rudolf A., and van Es, René

Abstract

Background: Phospholamban (PLN) p.(Arg14del) variant carriers are at risk for development of malignant ventricular arrhythmia (MVA). Accurate risk stratification allows timely implantation of intracardiac defibrillators and is currently performed with a multimodality prediction model. Objective: This study aimed to investigate whether an explainable deep learning–based approach allows risk prediction with only electrocardiogram (ECG) data. Methods: A total of 679 PLN p.(Arg14del) carriers without MVA at baseline were identified. A deep learning–based variational auto-encoder, trained on 1.1 million ECGs, was used to convert the 12-lead baseline ECG into its FactorECG, a compressed version of the ECG that summarizes it into 32 explainable factors. Prediction models were developed by Cox regression. Results: The deep learning–based ECG-only approach was able to predict MVA with a C statistic of 0.79 (95% CI, 0.76–0.83), comparable to the current prediction model (C statistic, 0.83 [95% CI, 0.79–0.88]; P = .054) and outperforming a model based on conventional ECG parameters (low-voltage ECG and negative T waves; C statistic, 0.65 [95% CI, 0.58–0.73]; P < .001). Clinical simulations showed that a 2-step approach, with ECG-only screening followed by a full workup, resulted in 60% less additional diagnostics while outperforming the multimodal prediction model in all patients. A visualization tool was created to provide interactive visualizations (https://pln.ecgx.ai). Conclusion: Our deep learning–based algorithm based on ECG data only accurately predicts the occurrence of MVA in PLN p.(Arg14del) carriers, enabling more efficient stratification of patients who need additional diagnostic testing and follow-up.

Published
2024

4. Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Team Onderzoek, Circulatory Health, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Gasperetti, Alessio, Carrick, Richard, Protonotarios, Alexandros, Laredo, Mikael, van der Schaaf, Iris, Syrris, Petros, Murray, Brittney, Tichnell, Crystal, Cappelletto, Chiara, Gigli, Marta, Medo, Kristen, Crabtree, Peter, Saguner, Ardan M., Duru, Firat, Hylind, Robyn, Abrams, Dominic, Lakdawala, Neal K., Massie, Charles, Cadrin-Tourigny, Julia, Targetti, Mattia, Olivotto, Iacopo, Graziosi, Maddalena, Cox, Moniek, Biagini, Elena, Charron, Philippe, Casella, Michela, Tondo, Claudio, Yazdani, Momina, Ware, James S., Prasad, Sanjay, Calò, Leonardo, Smith, Eric, Helms, Adam, Hespe, Sophie, Ingles, Jodie, Tandri, Harikrishna, Ader, Flavie, Mestroni, Luisa, Wilde, Arthur, Merlo, Marco, Gandjbakhch, Estelle, Calkins, Hugh, te Riele, Anneline S.J.M., Peter van Tintelen, J., Elliot, Perry, James, Cynthia A., Team Onderzoek, Circulatory Health, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Gasperetti, Alessio, Carrick, Richard, Protonotarios, Alexandros, Laredo, Mikael, van der Schaaf, Iris, Syrris, Petros, Murray, Brittney, Tichnell, Crystal, Cappelletto, Chiara, Gigli, Marta, Medo, Kristen, Crabtree, Peter, Saguner, Ardan M., Duru, Firat, Hylind, Robyn, Abrams, Dominic, Lakdawala, Neal K., Massie, Charles, Cadrin-Tourigny, Julia, Targetti, Mattia, Olivotto, Iacopo, Graziosi, Maddalena, Cox, Moniek, Biagini, Elena, Charron, Philippe, Casella, Michela, Tondo, Claudio, Yazdani, Momina, Ware, James S., Prasad, Sanjay, Calò, Leonardo, Smith, Eric, Helms, Adam, Hespe, Sophie, Ingles, Jodie, Tandri, Harikrishna, Ader, Flavie, Mestroni, Luisa, Wilde, Arthur, Merlo, Marco, Gandjbakhch, Estelle, Calkins, Hugh, te Riele, Anneline S.J.M., Peter van Tintelen, J., Elliot, Perry, and James, Cynthia A.

Published
2024

5. Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative

Author

Onderzoek Precision medicine, Circulatory Health, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Cardiologie zorg, Team Medisch, Regenerative Medicine and Stem Cells, Onderzoek Cardiovasculair Reg. Med., Experimentele Afd. Cardiologie 2, Balducci, Valentina, Scardigli, Francesco, Harakalova, Magdalena, Peter. van Tintelen, J., Doevendans, Pieter A., Costa, Kevin D., Turnbull, Irene C., P. G. Sluijter, Joost, Stillitano, Francesca, Onderzoek Precision medicine, Circulatory Health, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Cardiologie zorg, Team Medisch, Regenerative Medicine and Stem Cells, Onderzoek Cardiovasculair Reg. Med., Experimentele Afd. Cardiologie 2, Balducci, Valentina, Scardigli, Francesco, Harakalova, Magdalena, Peter. van Tintelen, J., Doevendans, Pieter A., Costa, Kevin D., Turnbull, Irene C., P. G. Sluijter, Joost, and Stillitano, Francesca

Published
2023

6. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

Author

Meulen, M.H. van der, Herkert, Johanna C., Boer, S.L. den, Marchie Sarvaas, G.J. du, Blom, N.A., Harkel, A.D. Ten, Tanke, R.B., Marcelis, C.L.M., Peter van Tintelen, J., Dalinghaus, M., Meulen, M.H. van der, Herkert, Johanna C., Boer, S.L. den, Marchie Sarvaas, G.J. du, Blom, N.A., Harkel, A.D. Ten, Tanke, R.B., Marcelis, C.L.M., Peter van Tintelen, J., and Dalinghaus, M.

Abstract

Contains fulltext : 284419.pdf (Publisher’s version ) (Open Access)

Published
2022

7. Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Electrofysiologie, CCU Cardiologie, Team Onderzoek, Arts Assistenten Cardiologie, Onderzoek Precision medicine, Cardiologie onderzoek 1, Child Health, Circulatory Health, Regenerative Medicine and Stem Cells, Cardiologie patientenzorg, Genetica, Genetica Sectie Genoomdiagnostiek, Team Medisch, Cancer, 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., te Riele, Anneline S.J.M., Electrofysiologie, CCU Cardiologie, Team Onderzoek, Arts Assistenten Cardiologie, Onderzoek Precision medicine, Cardiologie onderzoek 1, Child Health, Circulatory Health, Regenerative Medicine and Stem Cells, Cardiologie patientenzorg, Genetica, Genetica Sectie Genoomdiagnostiek, Team Medisch, Cancer, 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

8. Uptake and patient perspectives on additional testing for novel disease-associated genes: Lessons from a pah cohort

Author

Genetica, Child Health, Circulatory Health, Jansen, Samara M.A., van de Heuvel, Lieke M., Houweling, Arjan C., Peter van Tintelen, J., de Man, Frances S., Noordegraaf, Anton Vonk, Bogaard, Harm Jan, Genetica, Child Health, Circulatory Health, Jansen, Samara M.A., van de Heuvel, Lieke M., Houweling, Arjan C., Peter van Tintelen, J., de Man, Frances S., Noordegraaf, Anton Vonk, and Bogaard, Harm Jan

Published
2021

9. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Author

Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., Jongbloed, Jan D.H., Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., and Jongbloed, Jan D.H.

Abstract

Contains fulltext : 214462.pdf (Publisher’s version ) (Closed access)

Published
2020

10. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Author

Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., Jongbloed, Jan D.H., Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., and Jongbloed, Jan D.H.

Abstract

Contains fulltext : 214462.pdf (Publisher’s version ) (Closed access)

Published
2020

11. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Author

Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., Jongbloed, Jan D.H., Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., and Jongbloed, Jan D.H.

Abstract

Contains fulltext : 214462.pdf (Publisher’s version ) (Closed access)

Published
2020

12. Heritability in genetic heart disease : The role of genetic background

Author

Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, Pinto, Yigal M., Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, and Pinto, Yigal M.

Published
2019

13. Heritability in genetic heart disease : The role of genetic background

Author

Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, Pinto, Yigal M., Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, and Pinto, Yigal M.

Published
2019

14. Heritability in genetic heart disease : The role of genetic background

Author

Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, Pinto, Yigal M., Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, and Pinto, Yigal M.

Published
2019

15. Heritability in genetic heart disease: The role of genetic background

Author

Genetica, Genetica Klinische Genetica, Circulatory Health, Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, Pinto, Yigal M., Genetica, Genetica Klinische Genetica, Circulatory Health, Jansweijer, Joeri A., Van Spaendonck-Zwarts, Karin Y., Tanck, Michael W.T., Peter Van Tintelen, J., Christiaans, Imke, Van Der Smagt, Jasper, Vermeer, Alexa, Bos, J. Martijn, Moss, Arthur J., Swan, Heikki, Priori, Sylvia, Rydberg, Annika, Tfelt-Hansen, Jacob, Ackerman, Michael, Olivotto, Iacopo, Charron, Philippe, Gimeno, Juan R., Van Den Berg, Maarten, Wilde, Arthur, and Pinto, Yigal M.

Published
2019

16. High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

Author

Klauke, B. (Baerbel), Gaertner-Rommel, A. (Anna), Schulz, U. (Uwe), Kassner, A. (Astrid), Knyphausen, E.Z. (Edzard zu), Laser, T. (Thorsten), Kececioglu, D. (Deniz), Paluszkiewicz, L. (Lech), Blanz, U. (Ute), Sandica, E. (Eugen), Bogaerdt, A. (Antoon) van den, Peter van Tintelen, J. (J.), Gummert, J. (Jan Fritz), Milting, H. (Hendrik), Klauke, B. (Baerbel), Gaertner-Rommel, A. (Anna), Schulz, U. (Uwe), Kassner, A. (Astrid), Knyphausen, E.Z. (Edzard zu), Laser, T. (Thorsten), Kececioglu, D. (Deniz), Paluszkiewicz, L. (Lech), Blanz, U. (Ute), Sandica, E. (Eugen), Bogaerdt, A. (Antoon) van den, Peter van Tintelen, J. (J.), Gummert, J. (Jan Fritz), and Milting, H. (Hendrik)

Abstract

Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these diseases are genetically determined. We genotyped 43 index-patients (30 DCM, 10 ARVC, 3 RCM) with advanced or end stage cardiomyopathy using a gene panel which covered 46 known cardiomyopathy disease genes. Fifty-three variants with possible impact on disease in 33 patients were identified. Of these 27 (51%) were classified as likely pathogenic or pathogenic in the MYH7, MYL2, MYL3, NEXN, TNNC1, TNNI3, DES, LMNA, PKP2, PLN, RBM20, TTN, and CRYAB genes. Fifty-six percent (n = 24) of index-patients carried a likely pathogenic or pathogenic mutation. Of these 75% (n = 18) were familial and 25% (n = 6) sporadic cases. However, severe cardiomyopathy seemed to be not characterized by a specific mutation profile. Remarkably, we identified a novel homozygous PKP2-missense variant in a large consanguineous family with sudden death in early childhood and several members with heart transplantation in adolescent age.

Published
2017
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