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1,007 results on '"van Tintelen, J. Peter"'

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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3. 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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4. MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

Author

Marsili, Luisa, van Lint, Freyja H. M., Russo, Francesco, van Spaendonck-Zwarts, Karin Y., Ader, Flavie, Bichon, Marie-Line, Faivre, Laurence, Houweling, Arjan C., Isidor, Bertrand, Lekanne Deprez, Ronald H., Cox, Moniek G. P. J., Wilde, Arthur A. M., Mazel, Benoit, Mercier, Sandra, Dooijes, Dennis, Millat, Gilles, Nguyen, Karine, Post, Jan G., Richard, Pascale, van de Beek, Irma, Vermeer, Alexa M. C., Boven, Ludolf, Jongbloed, Jan D. H., and van Tintelen, J. Peter

Published
2023
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6. Diagnostic value of late gadolinium enhancement at cardiovascular magnetic resonance to distinguish arrhythmogenic right ventricular cardiomyopathy from differentials

Author

Rekker, Lian Y., Muller, Steven A., Gasperetti, Alessio, Bourfiss, Mimount, Oerlemans, Marish I.F.J., Cramer, Maarten J., Zimmerman, Stefan L., Dooijes, Dennis, Schalkx, Hanke, van der Harst, Pim, James, Cynthia A., van Tintelen, J. Peter, Guglielmo, Marco, Velthuis, Birgitta K., and te Riele, Anneline S.J.M.

Published
2024
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7. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study

Author

Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E., Schmidt, Amand F., Kooijman-Reumerman, Maria D., Bracun, Valentina, Slieker, Martijn G., Dooijes, Dennis, Vermeer, Alexa M.C., Wilde, Arthur A.M., Amin, Ahmad S., Lekanne Deprez, Ronald H., Herkert, Johanna C., Christiaans, Imke, de Boer, Rudolf A., Jongbloed, Jan D.H., van Tintelen, J. Peter, Asselbergs, Folkert W., and Baas, Annette F.

Published
2024
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8. Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

Author

Niskanen, Julia E., Ohlsson, Åsa, Ljungvall, Ingrid, Drögemüller, Michaela, Ernst, Robert F., Dooijes, Dennis, van Deutekom, Hanneke W. M., van Tintelen, J. Peter, Snijders Blok, Christian J. B., van Vugt, Marion, van Setten, Jessica, Asselbergs, Folkert W., Petrič, Aleksandra Domanjko, Salonen, Milla, Hundi, Sruthi, Hörtenhuber, Matthias, Kere, Juha, Pyle, W. Glen, Donner, Jonas, Postma, Alex V., Leeb, Tosso, Andersson, Göran, Hytönen, Marjo K., Häggström, Jens, Wiberg, Maria, Friederich, Jana, Eberhard, Jenny, Harakalova, Magdalena, van Steenbeek, Frank G., Wess, Gerhard, and Lohi, Hannes

Published
2023
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9. Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Author

Jordan, Elizabeth, Peterson, Laiken, Ai, Tomohiko, Asatryan, Babken, Bronicki, Lucas, Brown, Emily, Celeghin, Rudy, Edwards, Matthew, Fan, Judy, Ingles, Jodie, James, Cynthia A, Jarinova, Olga, Johnson, Renee, Judge, Daniel P, Lahrouchi, Najim, Deprez, Ronald H Lekanne, Lumbers, R Thomas, Mazzarotto, Francesco, Domingo, Argelia Medeiros, Miller, Rebecca L, Morales, Ana, Murray, Brittney, Peters, Stacey, Pilichou, Kalliopi, Protonotarios, Alexandros, Semsarian, Christopher, Shah, Palak, Syrris, Petros, Thaxton, Courtney, van Tintelen, J Peter, Walsh, Roddy, Wang, Jessica, Ware, James, and Hershberger, Ray E

Subjects
Cardiovascular, Genetics, Heart Disease, Rare Diseases, Biotechnology, Cardiomyopathy, Dilated, Evidence-Based Medicine, Expert Testimony, Genetic Predisposition to Disease, Genetic Testing, Humans, cardiomyopathy, genetics, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundEach of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted.MethodsAn international panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes with idiopathic DCM. The panel used the Clinical Genome Resource semiquantitative gene-disease clinical validity classification framework with modifications for DCM genetics to classify genes into categories on the basis of the strength of currently available evidence. Representation of DCM genes on clinically available genetic testing panels was evaluated.ResultsFifty-one genes with human genetic evidence were curated. Twelve genes (23%) from 8 gene ontologies were classified as having definitive (BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN) or strong (DSP) evidence. Seven genes (14%; ACTC1, ACTN2, JPH2, NEXN, TNNI3, TPM1, VCL) including 2 additional ontologies were classified as moderate evidence; these genes are likely to emerge as strong or definitive with additional evidence. Of these 19 genes, 6 were similarly classified for hypertrophic cardiomyopathy and 3 for arrhythmogenic right ventricular cardiomyopathy. Of the remaining 32 genes (63%), 25 (49%) had limited evidence, 4 (8%) were disputed, 2 (4%) had no disease relationship, and 1 (2%) was supported by animal model data only. Of the 16 evaluated clinical genetic testing panels, most definitive genes were included, but panels also included numerous genes with minimal human evidence.ConclusionsIn the curation of 51 genes, 19 had high evidence (12 definitive/strong, 7 moderate). It is notable that these 19 genes explain only a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed. Clinical genetic testing panels include most high-evidence genes; however, genes lacking robust evidence are also commonly included. We recommend that high-evidence DCM genes be used for clinical practice and that caution be exercised in the interpretation of variants in variable-evidence DCM genes.

Published
2021

10. 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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11. Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

Author

Roberts, Jason D, Murphy, Nathaniel P, Hamilton, Robert M, Lubbers, Ellen R, James, Cynthia A, Kline, Crystal F, Gollob, Michael H, Krahn, Andrew D, Sturm, Amy C, Musa, Hassan, El-Refaey, Mona, Koenig, Sara, Aneq, Meriam Åström, Hoorntje, Edgar T, Graw, Sharon L, Davies, Robert W, Rafiq, Muhammad Arshad, Koopmann, Tamara T, Aafaqi, Shabana, Fatah, Meena, Chiasson, David A, Taylor, Matthew RG, Simmons, Samantha L, Han, Mei, van Opbergen, Chantal JM, Wold, Loren E, Sinagra, Gianfranco, Mittal, Kirti, Tichnell, Crystal, Murray, Brittney, Codima, Alberto, Nazer, Babak, Nguyen, Duy T, Marcus, Frank I, Sobriera, Nara, Lodder, Elisabeth M, van den Berg, Maarten P, Spears, Danna A, Robinson, John F, Ursell, Philip C, Green, Anna K, Skanes, Allan C, Tang, Anthony S, Gardner, Martin J, Hegele, Robert A, van Veen, Toon AB, Wilde, Arthur AM, Healey, Jeff S, Janssen, Paul ML, Mestroni, Luisa, van Tintelen, J Peter, Calkins, Hugh, Judge, Daniel P, Hund, Thomas J, Scheinman, Melvin M, and Mohler, Peter J

Subjects
Heart Disease, Cardiovascular, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Animals, Ankyrins, Arrhythmogenic Right Ventricular Dysplasia, Disease Models, Animal, Female, Humans, Indoles, Male, Maleimides, Mice, Mice, Knockout, Myocardium, Wnt Signaling Pathway, beta Catenin, Arrhythmias, Cardiology, Cardiovascular disease, Cell Biology, Genetic diseases, Medical and Health Sciences, Immunology
Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on cardiac tissue analysis, an ANK2 mouse model was found to develop dramatic structural abnormalities reflective of human ACM, including biventricular dilation, reduced ejection fraction, cardiac fibrosis, and premature death. Desmosomal structure and function appeared preserved in diseased human and murine specimens in the presence of markedly abnormal β-catenin expression and patterning, leading to identification of a previously unknown interaction between ankyrin-B and β-catenin. A pharmacological activator of the WNT/β-catenin pathway, SB-216763, successfully prevented and partially reversed the murine ACM phenotypes. Our findings introduce what we believe to be a new pathway for ACM, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and β-catenin, and evidence for targeted activation of the WNT/β-catenin pathway as a potential treatment for this disease.

Published
2019

12. The Genetics of Mitral Valve Prolapse

Author

Pérez Matos, Ana J., Oomen, Toon, van Tintelen, J. Peter, Baars, Hubert F., editor, Doevendans, Pieter A. F. M., editor, Houweling, Arjan C., editor, and van Tintelen, J. Peter, editor

Published
2020
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16. The genetic architecture of Plakophilin 2 cardiomyopathy

Author

Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D.H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., and Parikh, Victoria N.

Published
2021
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17. Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Author

Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Nicastro, Michele, Vermeer, Alexa M C, Postema, Pieter G, Tadros, Rafik, Bowling, Forrest Z, Aegisdottir, Hildur M, Tragante, Vinicius, Mach, Lukas, Postma, Alex V, Lodder, Elisabeth M, van Duijvenboden, Karel, Zwart, Rob, Beekman, Leander, Wu, Lingshuang, van der Zwaag, Paul A, Alders, Mariëlle, Allouba, Mona, Aguib, Yasmine, Santomel, J Luis, de Una, David, Monserrat, Lorenzo, Miranda, Antonio M A, Kanemaru, Kazumasa, Cranley, James, van Zeggeren, Ingeborg E, Aronica, Eleonora M A, Ripolone, Michela, Zanotti, Simona, Sveinbjornsson, Gardar, Ivarsdottir, Erna V, Hólm, Hilma, Guðbjartsson, Daníel F, Skúladóttir, Ástrós Th, Stefánsson, Kári, Nadauld, Lincoln, Knowlton, Kirk U, Ostrowski, Sisse Rye, Sørensen, Erik, Vesterager Pedersen, Ole Birger, Ghouse, Jonas, Rand, Søren, Bundgaard, Henning, Ullum, Henrik, Erikstrup, Christian, Aagaard, Bitten, Bruun, Mie Topholm, Christiansen, Mette, Jensen, Henrik K, Carere, Deanna Alexis, Cummings, Christopher T, Fishler, Kristen, Tøring, Pernille Mathiesen, Brusgaard, Klaus, Juul, Trine Maxel, Saaby, Lotte, Winkel, Bo Gregers, Mogensen, Jens, Fortunato, Francesco, Comi, Giacomo Pietro, Ronchi, Dario, van Tintelen, J Peter, Noseda, Michela, Airola, Michael V, Christiaans, Imke, Wilde, Arthur A M, Wilders, Ronald, Clur, Sally-Ann, Verkerk, Arie O, Bezzina, Connie R, Lahrouchi, Najim, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Nicastro, Michele, Vermeer, Alexa M C, Postema, Pieter G, Tadros, Rafik, Bowling, Forrest Z, Aegisdottir, Hildur M, Tragante, Vinicius, Mach, Lukas, Postma, Alex V, Lodder, Elisabeth M, van Duijvenboden, Karel, Zwart, Rob, Beekman, Leander, Wu, Lingshuang, van der Zwaag, Paul A, Alders, Mariëlle, Allouba, Mona, Aguib, Yasmine, Santomel, J Luis, de Una, David, Monserrat, Lorenzo, Miranda, Antonio M A, Kanemaru, Kazumasa, Cranley, James, van Zeggeren, Ingeborg E, Aronica, Eleonora M A, Ripolone, Michela, Zanotti, Simona, Sveinbjornsson, Gardar, Ivarsdottir, Erna V, Hólm, Hilma, Guðbjartsson, Daníel F, Skúladóttir, Ástrós Th, Stefánsson, Kári, Nadauld, Lincoln, Knowlton, Kirk U, Ostrowski, Sisse Rye, Sørensen, Erik, Vesterager Pedersen, Ole Birger, Ghouse, Jonas, Rand, Søren, Bundgaard, Henning, Ullum, Henrik, Erikstrup, Christian, Aagaard, Bitten, Bruun, Mie Topholm, Christiansen, Mette, Jensen, Henrik K, Carere, Deanna Alexis, Cummings, Christopher T, Fishler, Kristen, Tøring, Pernille Mathiesen, Brusgaard, Klaus, Juul, Trine Maxel, Saaby, Lotte, Winkel, Bo Gregers, Mogensen, Jens, Fortunato, Francesco, Comi, Giacomo Pietro, Ronchi, Dario, van Tintelen, J Peter, Noseda, Michela, Airola, Michael V, Christiaans, Imke, Wilde, Arthur A M, Wilders, Ronald, Clur, Sally-Ann, Verkerk, Arie O, Bezzina, Connie R, and Lahrouchi, Najim

Published
2024

18. 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

19. Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis

Author

Muller, Steven A, Peiró-Aventin, Belén, Biagioni, Giulia, Tini, Giacomo, Saturi, Giulia, Kronberger, Christina, Achten, Anouk, Dobner, Stephan, Te Rijdt, Wouter P, Gasperetti, Alessio, Te Riele, Anneline S J M, Varrà, Guerino G, Ponziani, Alberto, Hirsch, Alexander, Porcari, Aldostefano, van der Meer, Manon G, Zampieri, Mattia, van der Harst, Pim, Kammerlander, Andreas, Biagini, Elena, van Tintelen, J Peter, Barbato, Emanuele, Asselbergs, Folkert W, Menale, Silvia, Gräni, Christoph, Merlo, Marco, Michels, Michelle, Knackstedt, Christian, Nitsche, Christian, Longhi, Simone, Musumeci, Beatrice, Cappelli, Francesco, Garcia-Pavia, Pablo, Oerlemans, Marish I F J, Muller, Steven A, Peiró-Aventin, Belén, Biagioni, Giulia, Tini, Giacomo, Saturi, Giulia, Kronberger, Christina, Achten, Anouk, Dobner, Stephan, Te Rijdt, Wouter P, Gasperetti, Alessio, Te Riele, Anneline S J M, Varrà, Guerino G, Ponziani, Alberto, Hirsch, Alexander, Porcari, Aldostefano, van der Meer, Manon G, Zampieri, Mattia, van der Harst, Pim, Kammerlander, Andreas, Biagini, Elena, van Tintelen, J Peter, Barbato, Emanuele, Asselbergs, Folkert W, Menale, Silvia, Gräni, Christoph, Merlo, Marco, Michels, Michelle, Knackstedt, Christian, Nitsche, Christian, Longhi, Simone, Musumeci, Beatrice, Cappelli, Francesco, Garcia-Pavia, Pablo, and Oerlemans, Marish I F J

Abstract

AIMS: The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement.METHODS AND RESULTS: We included 159 relatives (median age 55.6 [43.2-65.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class ≥II) and pacemaker-requiring conduction disorders. At baseline, 40/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (≤10 years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%.CONCLUSIONS: Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common.

Published
2024

20. Absence of an increased wall thickness does not rule out cardiac amyloidosis

Author

Team Onderzoek, Team Medisch, Arts Assistenten Cardiologie, Gezonde Vaten, Circulatory Health, Genetica Groep Van Tintelen, Cancer, Child Health, Muller, Steven A, Achten, Anouk, van der Meer, Manon G, Zwetsloot, Peter-Paul, Sanders-van Wijk, Sandra, van der Harst, Pim, van Tintelen, J Peter, Te Riele, Anneline S J M, van Empel, Vanessa, Knackstedt, Christian, Oerlemans, Marish I F J, Team Onderzoek, Team Medisch, Arts Assistenten Cardiologie, Gezonde Vaten, Circulatory Health, Genetica Groep Van Tintelen, Cancer, Child Health, Muller, Steven A, Achten, Anouk, van der Meer, Manon G, Zwetsloot, Peter-Paul, Sanders-van Wijk, Sandra, van der Harst, Pim, van Tintelen, J Peter, Te Riele, Anneline S J M, van Empel, Vanessa, Knackstedt, Christian, and Oerlemans, Marish I F J

Published
2024

21. A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers

Author

Electrofysiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Groep Van Tintelen, Child Health, Team Medisch, Carrick, Richard T, Gasperetti, Alessio, Protonotarios, Alexandros, Murray, Brittney, Laredo, Mikael, van der Schaaf, Iris, Dooijes, Dennis, Syrris, Petros, Cannie, Douglas, Tichnell, Crystal, Gilotra, Nisha A, Cappelletto, Chiara, Medo, Kristen, Saguner, Ardan M, Duru, Firat, Hylind, Robyn J, Abrams, Dominic J, Lakdawala, Neal K, Cadrin-Tourigny, Julia, Targetti, Mattia, Olivotto, Iacopo, Graziosi, Maddalena, Cox, Moniek, Biagini, Elena, Charron, Philippe, Compagnucci, Paolo, Casella, Michela, Conte, Giulio, Tondo, Claudio, Yazdani, Momina, Ware, James S, Prasad, Sanjay K, Calò, Leonardo, Smith, Eric D, Helms, Adam S, Hespe, Sophie, Ingles, Jodie, Tandri, Harikrishna, Ader, Flavie, Peretto, Giovanni, Peters, Stacey, Horton, Ari, Yao, Jessica, Schulze-Bahr, Eric, Dittman, Sven, Carruth, Eric D, Young, Katelyn, Qureshi, Maria, Haggerty, Chris, Parikh, Victoria N, Taylor, Matthew, Mestroni, Luisa, Wilde, Arthur, Sinagra, Gianfranco, Merlo, Marco, Gandjbakhch, Estelle, van Tintelen, J Peter, Te Riele, Anneline S J M, Elliot, Perry, Calkins, Hugh, Wu, Katherine C, James, Cynthia A, Electrofysiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Groep Van Tintelen, Child Health, Team Medisch, Carrick, Richard T, Gasperetti, Alessio, Protonotarios, Alexandros, Murray, Brittney, Laredo, Mikael, van der Schaaf, Iris, Dooijes, Dennis, Syrris, Petros, Cannie, Douglas, Tichnell, Crystal, Gilotra, Nisha A, Cappelletto, Chiara, Medo, Kristen, Saguner, Ardan M, Duru, Firat, Hylind, Robyn J, Abrams, Dominic J, Lakdawala, Neal K, Cadrin-Tourigny, Julia, Targetti, Mattia, Olivotto, Iacopo, Graziosi, Maddalena, Cox, Moniek, Biagini, Elena, Charron, Philippe, Compagnucci, Paolo, Casella, Michela, Conte, Giulio, Tondo, Claudio, Yazdani, Momina, Ware, James S, Prasad, Sanjay K, Calò, Leonardo, Smith, Eric D, Helms, Adam S, Hespe, Sophie, Ingles, Jodie, Tandri, Harikrishna, Ader, Flavie, Peretto, Giovanni, Peters, Stacey, Horton, Ari, Yao, Jessica, Schulze-Bahr, Eric, Dittman, Sven, Carruth, Eric D, Young, Katelyn, Qureshi, Maria, Haggerty, Chris, Parikh, Victoria N, Taylor, Matthew, Mestroni, Luisa, Wilde, Arthur, Sinagra, Gianfranco, Merlo, Marco, Gandjbakhch, Estelle, van Tintelen, J Peter, Te Riele, Anneline S J M, Elliot, Perry, Calkins, Hugh, Wu, Katherine C, and James, Cynthia A

Published
2024

22. 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

23. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study

Author

Onderzoek Precision medicine, Genetica Klinische Genetica, Cardiologie patientenzorg, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Groep Van Tintelen, Cancer, Team Medisch, Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E, Schmidt, Amand F, Kooijman-Reumerman, Maria D, Bracun, Valentina, Slieker, Martijn G, Dooijes, Dennis, Vermeer, Alexa M C, Wilde, Arthur A M, Amin, Ahmad S, Lekanne Deprez, Ronald H, Herkert, Johanna C, Christiaans, Imke, de Boer, Rudolf A, Jongbloed, Jan D H, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F, Onderzoek Precision medicine, Genetica Klinische Genetica, Cardiologie patientenzorg, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Groep Van Tintelen, Cancer, Team Medisch, Jansen, Mark, de Brouwer, Remco, Hassanzada, Fahima, Schoemaker, Angela E, Schmidt, Amand F, Kooijman-Reumerman, Maria D, Bracun, Valentina, Slieker, Martijn G, Dooijes, Dennis, Vermeer, Alexa M C, Wilde, Arthur A M, Amin, Ahmad S, Lekanne Deprez, Ronald H, Herkert, Johanna C, Christiaans, Imke, de Boer, Rudolf A, Jongbloed, Jan D H, van Tintelen, J Peter, Asselbergs, Folkert W, and Baas, Annette F

Published
2024

24. 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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25. 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

26. Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5

Author

Dominguez, Fernando, Zorio, Esther, Jimenez-Jaimez, Juan, Salguero-Bodes, Rafael, Zwart, Robert, Gonzalez-Lopez, Esther, Molina, Pilar, Bermúdez-Jiménez, Francisco, Delgado, Juan F., Braza-Boïls, Aitana, Bornstein, Belen, Toquero, Jorge, Segovia, Javier, Van Tintelen, J. Peter, Lara-Pezzi, Enrique, and Garcia-Pavia, Pablo

Published
2020
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27. 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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28. 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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29. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Author

Tadros, Rafik, Francis, Catherine, Xu, Xiao, Vermeer, Alexa M. C., Harper, Andrew R., Huurman, Roy, Kelu Bisabu, Ken, Walsh, Roddy, Hoorntje, Edgar T., te Rijdt, Wouter P., Buchan, Rachel J., van Velzen, Hannah G., van Slegtenhorst, Marjon A., Vermeulen, Jentien M., Offerhaus, Joost Allard, Bai, Wenjia, de Marvao, Antonio, Lahrouchi, Najim, Beekman, Leander, Karper, Jacco C., Veldink, Jan H., Kayvanpour, Elham, Pantazis, Antonis, Baksi, A. John, Whiffin, Nicola, Mazzarotto, Francesco, Sloane, Geraldine, Suzuki, Hideaki, Schneider-Luftman, Deborah, Elliott, Paul, Richard, Pascale, Ader, Flavie, Villard, Eric, Lichtner, Peter, Meitinger, Thomas, Tanck, Michael W. T., van Tintelen, J. Peter, Thain, Andrew, McCarty, David, Hegele, Robert A., Roberts, Jason D., Amyot, Julie, Dubé, Marie-Pierre, Cadrin-Tourigny, Julia, Giraldeau, Geneviève, L’Allier, Philippe L., Garceau, Patrick, Tardif, Jean-Claude, Boekholdt, S. Matthijs, Lumbers, R. Thomas, Asselbergs, Folkert W., Barton, Paul J. R., Cook, Stuart A., Prasad, Sanjay K., O’Regan, Declan P., van der Velden, Jolanda, Verweij, Karin J. H., Talajic, Mario, Lettre, Guillaume, Pinto, Yigal M., Meder, Benjamin, Charron, Philippe, de Boer, Rudolf A., Christiaans, Imke, Michels, Michelle, Wilde, Arthur A. M., Watkins, Hugh, Matthews, Paul M., Ware, James S., and Bezzina, Connie R.

Published
2021
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31. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary

Author

Towbin, Jeffrey A., McKenna, William J., Abrams, Dominic J., Ackerman, Michael J., Calkins, Hugh, Darrieux, Francisco C.C., Daubert, James P., de Chillou, Christian, DePasquale, Eugene C., Desai, Milind Y., Estes, N.A. Mark, III, Hua, Wei, Indik, Julia H., Ingles, Jodie, James, Cynthia A., John, Roy M., Judge, Daniel P., Keegan, Roberto, Krahn, Andrew D., Link, Mark S., Marcus, Frank I., McLeod, Christopher J., Mestroni, Luisa, Priori, Silvia G., Saffitz, Jeffrey E., Sanatani, Shubhayan, Shimizu, Wataru, van Tintelen, J. Peter, Wilde, Arthur A.M., and Zareba, Wojciech

Published
2019
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37. Arrhythmogenic Cardiomyopathy

Author

Cox, Moniek G. P. J., Saguner, Ardan M., te Riele, Anneline S., van Tintelen, J. Peter, Duru, Firat, Brunckhorst, Corinna, Hauer, Richard N. W., Baars, Hubert F., editor, Doevendans, Pieter A. F. M., editor, Houweling, Arjan C., editor, and van Tintelen, J. Peter, editor

Published
2016
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38. Deep representation learning of electrocardiogram reveals novel insights in cardiac structure and functions and connections to cardiovascular diseases

Author

Yeung, Ming Wai, primary, van de Leur, Rutger, additional, Benjamins, Jan Walter, additional, Vessies, Melle B, additional, Ruijsink, Bram, additional, Puyol-Antón, Esther, additional, van Tintelen, J. Peter, additional, Verweij, Niek, additional, van Es, Rene, additional, and van der Harst, Pim, additional

Published
2023
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40. Absence of an increased wall thickness does not rule out cardiac amyloidosis.

Author

Muller, Steven A., Achten, Anouk, van der Meer, Manon G., Zwetsloot, Peter-Paul, Sanders-van Wijk, Sandra, van der Harst, Pim, van Tintelen, J. Peter, te Riele, Anneline S. J. M., van Empel, Vanessa, Knackstedt, Christian, and Oerlemans, Marish I. F. J.

Subjects
SINGLE-photon emission computed tomography, CARDIAC magnetic resonance imaging, RADIONUCLIDE imaging, VENTRICULAR septum, CARDIAC amyloidosis, VENTRICULAR ejection fraction, HEART failure
Abstract

This document is a letter to the editor of the journal Amyloid. The authors discuss the diagnosis of transthyretin amyloid (ATTR) cardiomyopathy (ATTR-CM), a progressive and life-threatening heart condition. They question the current diagnostic criteria, which suggest that a wall thickness of ≥12 mm should be used to screen for cardiac amyloidosis. The authors conducted a study to determine the correlation between wall thickness measurements and tracer uptake in bone scintigraphy, as well as the prevalence of a wall thickness <12 mm in ATTR-CM patients. They found that a significant number of patients with ATTR-CM did not have an increased wall thickness, suggesting that a wall thickness <12 mm does not rule out cardiac amyloidosis. The authors recommend further research to determine if these patients benefit from treatment. [Extracted from the article]

Published
2024
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42. 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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43. Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies

Author

Jansen, Mark, primary, de Brouwer, Remco, additional, Hassanzada, Fahima, additional, Schoemaker, Angela E., additional, Schmidt, Amand F., additional, Kooijman-Reumerman, Maria D., additional, Bracun, Valentina, additional, Slieker, Martijn G., additional, Dooijes, Dennis, additional, Vermeer, Alexa M.C., additional, Wilde, Arthur A.M., additional, Amin, Ahmad S., additional, Lekanne Deprez, Ronald H., additional, Herkert, Johanna C., additional, Christiaans, Imke, additional, de Boer, Rudolf A., additional, Jongbloed, Jan D.H., additional, van Tintelen, J. Peter, additional, Asselbergs, Folkert W., additional, and Baas, Annette F., additional

Published
2023
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46. Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy

Author

Eijgenraam, Tim R., Boukens, Bastiaan J., Boogerd, Cornelis J., Schouten, E. Marloes, van de Kolk, Cees W. A., Stege, Nienke M., te Rijdt, Wouter P., Hoorntje, Edgar T., van der Zwaag, Paul A., van Rooij, Eva, van Tintelen, J. Peter, van den Berg, Maarten P., van der Meer, Peter, van der Velden, Jolanda, Silljé, Herman H. W., and de Boer, Rudolf A.

Published
2020
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47. The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy

Author

Eijgenraam, Tim R., Boukens, Bastiaan J., Boogerd, Cornelis J., Schouten, E. Marloes, van de Kolk, Cees W. A., Stege, Nienke M., te Rijdt, Wouter P., Hoorntje, Edgar T., van der Zwaag, Paul A., van Rooij, Eva, van Tintelen, J. Peter, van den Berg, Maarten P., van der Meer, Peter, van der Velden, Jolanda, Silljé, Herman H. W., and de Boer, Rudolf A.

Published
2020
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48. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Author

Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W.T., and Bezzina, Connie R.

Published
2020
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