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2. 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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7. Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia

Author

Pham, Caroline, primary, Koopmann, Tamara T., additional, Vinocur, Jeffrey M., additional, Blom, Nico A., additional, Nogueira Silbiger, Vivian, additional, Mittal, Kirti, additional, Bootsma, Marianne, additional, Palm, Kaylin C. A., additional, Clur, Sally‐Ann B., additional, Barge‐Schaapveld, Daniela Q. C. M., additional, Hamilton, Robert M., additional, and Lodder, Elisabeth M., additional

Published
2024
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10. The Genetic Basis of Apparently Idiopathic Ventricular Fibrillation – a Retrospective Overview

Author

Verheul, Lisa M, primary, van der Ree, Martijn H, additional, Groeneveld, Sanne A, additional, Mulder, Bart A, additional, Christiaans, Imke, additional, Kapel, Gijs F L, additional, Alings, Marco, additional, Bootsma, Marianne, additional, Barge-Schaapveld, Daniela Q C M, additional, Balt, Jippe C, additional, Yap, Sing-Chien, additional, Krapels, Ingrid P C, additional, Ter Bekke, Rachel M A, additional, Volders, Paul G A, additional, van der Crabben, Saskia N, additional, Postema, Pieter G, additional, Wilde, Arthur A M, additional, Dooijes, Dennis, additional, Baas, Annette F, additional, and Hassink, Rutger J, additional

Published
2023
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14. The genetic basis of apparently idiopathic ventricular fibrillation:A retrospective overview

Author

Verheul, Lisa M., Van Der Ree, Martijn H., Groeneveld, Sanne A., Mulder, Bart A., Christiaans, Imke, Kapel, Gijs F.L., Alings, Marco, Bootsma, Marianne, Barge-Schaapveld, Daniela Q.C.M., Balt, Jippe C., Yap, Sing Chien, Krapels, Ingrid P.C., Ter Bekke, Rachel M.A., Volders, Paul G.A., Van Der Crabben, Saskia N., Postema, Pieter G., Wilde, Arthur A.M., Dooijes, Dennis, Baas, Annette F., Hassink, Rutger J., Verheul, Lisa M., Van Der Ree, Martijn H., Groeneveld, Sanne A., Mulder, Bart A., Christiaans, Imke, Kapel, Gijs F.L., Alings, Marco, Bootsma, Marianne, Barge-Schaapveld, Daniela Q.C.M., Balt, Jippe C., Yap, Sing Chien, Krapels, Ingrid P.C., Ter Bekke, Rachel M.A., Volders, Paul G.A., Van Der Crabben, Saskia N., Postema, Pieter G., Wilde, Arthur A.M., Dooijes, Dennis, Baas, Annette F., and Hassink, Rutger J.

Abstract

Aims: During the diagnostic work-up of patients with idiopathic ventricular fibrillation (VF), next-generation sequencing panels can be considered to identify genotypes associated with arrhythmias. However, consensus for gene panel testing is still lacking, and variants of uncertain significance (VUS) are often identified. The aim of this study was to evaluate genetic testing and its results in idiopathic VF patients. Methods and results: We investigated 419 patients with available medical records from the Dutch Idiopathic VF Registry. Genetic testing was performed in 379 (91%) patients [median age at event 39 years (27-51), 60% male]. Single-gene testing was performed in 87 patients (23%) and was initiated more often in patients with idiopathic VF before 2010. Panel testing was performed in 292 patients (77%). The majority of causal (likely) pathogenic variants (LP/P, n = 56, 15%) entailed the DPP6 risk haplotype (n = 39, 70%). Moreover, 10 LP/P variants were found in cardiomyopathy genes (FLNC, MYL2, MYH7, PLN (two), TTN (four), RBM20), and 7 LP/P variants were identified in genes associated with cardiac arrhythmias (KCNQ1, SCN5A (2), RYR2 (four)). For eight patients (2%), identification of an LP/P variant resulted in a change of diagnosis. In 113 patients (30%), a VUS was identified. Broad panel testing resulted in a higher incidence of VUS in comparison to single-gene testing (38% vs. 3%, P < 0.001). Conclusion: Almost all patients from the registry underwent, albeit not broad, genetic testing. The genetic yield of causal LP/P variants in idiopathic VF patients is 5%, increasing to 15% when including DPP6. In specific cases, the LP/P variant is the underlying diagnosis. A gene panel specifically for idiopathic VF patients is proposed.

Published
2023

15. Reclassification of a likely pathogenic Dutch founder variant in KCNH2:implications of reduced penetrance

Author

Copier, Jaël S., Bootsma, Marianne, Ng, Chai A., Wilde, Arthur A.M., Bertels, Robin A., Bikker, Hennie, Christiaans, Imke, van der Crabben, Saskia N., Hol, Janna A., Koopmann, Tamara T., Knijnenburg, Jeroen, Lommerse, Aafke A.J., van der Smagt, Jasper J., Bezzina, Connie R., Vandenberg, Jamie I., Verkerk, Arie O., Barge-Schaapveld, Daniela Q.C.M., Lodder, Elisabeth M., Copier, Jaël S., Bootsma, Marianne, Ng, Chai A., Wilde, Arthur A.M., Bertels, Robin A., Bikker, Hennie, Christiaans, Imke, van der Crabben, Saskia N., Hol, Janna A., Koopmann, Tamara T., Knijnenburg, Jeroen, Lommerse, Aafke A.J., van der Smagt, Jasper J., Bezzina, Connie R., Vandenberg, Jamie I., Verkerk, Arie O., Barge-Schaapveld, Daniela Q.C.M., and Lodder, Elisabeth M.

Abstract

BACKGROUND: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long QT syndrome type 2 (LQTS2). We identified eight index patients with a new variant of unknown significance (VUS), KCNH2:c.2717C > T:p.(Ser906Leu). We aimed to elucidate the biophysiological effect of this variant, to enable reclassification and consequent clinical decision-making. METHODS: A genotype-phenotype overview of the patients and relatives was created. The biophysiological effects were assessed independently by manual-, and automated calibrated patch clamp. HEK293a cells expressing (i) wild-type (WT) KCNH2, (ii) KCNH2-p.S906L alone (homozygous, Hm) or (iii) KCNH2-p.S906L in combination with WT (1:1) (heterozygous, Hz) were used for manual patching. Automated patch clamp measured the variants function against known benign and pathogenic variants, using Flp-In T-rex HEK293 KCNH2-variant cell lines. RESULTS: Incomplete penetrance of LQTS2 in KCNH2:p.(Ser906Leu) carriers was observed. In addition, some patients were heterozygous for other VUSs in CACNA1C, PKP2, RYR2 or AKAP9. The phenotype of carriers of KCNH2:p.(Ser906Leu) ranged from asymptomatic to life-threatening arrhythmic events. Manual patch clamp showed a reduced current density by 69.8 and 60.4% in KCNH2-p.S906L-Hm and KCNH2-p.S906L-Hz, respectively. The time constant of activation was significantly increased with 80.1% in KCNH2-p.S906L-Hm compared with KCNH2-WT. Assessment of KCNH2-p.S906L-Hz by calibrated automatic patch clamp assay showed a reduction in current density by 35.6%. CONCLUSION: The reduced current density in the KCNH2-p.S906L-Hz indicates a moderate loss-of-function. Combined with the reduced penetrance and variable phenotype, we conclude that KCNH2:p.(Ser906Leu) is a low penetrant likely pathogenic variant for LQTS2.

Published
2023

16. 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

17. The Genetic Basis of Apparently Idiopathic Ventricular Fibrillation - a Retrospective Overview

Author

Team Onderzoek, Cardiovasculaire Epi Team 10, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Klinische Genetica, Team Medisch, Verheul, Lisa M, van der Ree, Martijn H, Groeneveld, Sanne A, Mulder, Bart A, Christiaans, Imke, Kapel, Gijs F L, Alings, Marco, Bootsma, Marianne, Barge-Schaapveld, Daniela Q C M, Balt, Jippe C, Yap, Sing-Chien, Krapels, Ingrid P C, Ter Bekke, Rachel M A, Volders, Paul G A, van der Crabben, Saskia N, Postema, Pieter G, Wilde, Arthur A M, Dooijes, Dennis, Baas, Annette F, Hassink, Rutger J, Team Onderzoek, Cardiovasculaire Epi Team 10, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Klinische Genetica, Team Medisch, Verheul, Lisa M, van der Ree, Martijn H, Groeneveld, Sanne A, Mulder, Bart A, Christiaans, Imke, Kapel, Gijs F L, Alings, Marco, Bootsma, Marianne, Barge-Schaapveld, Daniela Q C M, Balt, Jippe C, Yap, Sing-Chien, Krapels, Ingrid P C, Ter Bekke, Rachel M A, Volders, Paul G A, van der Crabben, Saskia N, Postema, Pieter G, Wilde, Arthur A M, Dooijes, Dennis, Baas, Annette F, and Hassink, Rutger J

Published
2023

18. 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

19. Importance of Systematic Diagnostic Testing in Idiopathic Ventricular Fibrillation

Author

Groeneveld, Sanne A., primary, Verheul, Lisa M., additional, van der Ree, Martijn H., additional, Mulder, Bart A., additional, Scholten, Marcoen F., additional, Alings, Marco, additional, van der Voort, Pepijn, additional, Bootsma, Marianne, additional, Evertz, Reinder, additional, Balt, Jippe C., additional, Yap, Sing-Chien, additional, Doevendans, Pieter.A.F.M., additional, Postema, Pieter G., additional, Wilde, Arthur A.M., additional, Volders, Paul G.A., additional, and Hassink, Rutger J., additional

Published
2023
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20. 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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21. The Importance of Systematic Diagnostic Testing in Idiopathic Ventricular Fibrillation: Results From the Dutch iVF-Registry

Author

Groeneveld, Sanne A, Verheul, Lisa M, van der Ree, Martijn H, Mulder, Bart A, Scholten, Marcoen F, Alings, Marco, van der Voort, Pepijn, Bootsma, Marianne, Evertz, Reinder, Balt, Jippe C, Yap, Sing-Chien, Doevendans, Pieter A F M, Postema, Pieter G, Wilde, Arthur A M, Volders, Paul G A, Hassink, Rutger J, Cardiology, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), and RS: Carim - H04 Arrhythmogenesis and cardiogenetics

Abstract

BACKGROUND: Idiopathic ventricular fibrillation (iVF) is a diagnosis of exclusion. Systematic diagnostic testing is important to exclude alternative causes for VF. The early use of "high yield" testing, including cardiac magnetic resonance (CMR), exercise testing, and sodium channel blocker provocation, has been increasingly recognized. OBJECTIVES: The purpose of this study was to investigate the importance and consistency of systematic diagnostic testing in iVF. METHODS: This study included 423 iVF patients from 11 large secondary and tertiary hospitals in the Netherlands. Clinical characteristics and diagnostic testing data were ascertained. RESULTS: IVF patients experienced the index event at a median age of 40 years (IQR: 28-52 years), and 61% were men. The median follow-up time was 6 years (IQR: 2-12 years). Over the years, "high yield" diagnostic tests were increasingly performed (mean 68% in 2000-2010 vs 75% in 2011-2021; P < 0.001). During follow-up, 38 patients (9%) originally labeled as iVF received an alternative diagnosis. Patients in whom "high-yield" diagnostic tests were consistently performed during the initial work-up received an alternative diagnosis less frequently during follow-up (HR: 0.439; 95% CI: 0.219-0.878; P = 0.020). Patients who received an alternative diagnosis during follow-up had a worse prognosis in terms of cardiac death (P = 0.012) with a trend toward more implantable cardioverter-defibrillator therapy (P = 0.055). CONCLUSIONS: Although adherence to (near) complete diagnostic testing in this population of iVF patients increased over the years, patients with iVF still undergo varying levels of diagnostic evaluation. The latter leads to initial underdiagnosis of alternative conditions and is associated with a worse prognosis. Our results underscore the importance of early systematic diagnostic assessment in patients with apparent iVF.

Published
2023

23. Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Author

Copier, Jaël S, primary, Bootsma, Marianne, additional, Ng, Chai A, additional, Wilde, Arthur A M, additional, Bertels, Robin A, additional, Bikker, Hennie, additional, Christiaans, Imke, additional, van der Crabben, Saskia N, additional, Hol, Janna A, additional, Koopmann, Tamara T, additional, Knijnenburg, Jeroen, additional, Lommerse, Aafke A J, additional, van der Smagt, Jasper J, additional, Bezzina, Connie R, additional, Vandenberg, Jamie I, additional, Verkerk, Arie O, additional, Barge-Schaapveld, Daniela Q C M, additional, and Lodder, Elisabeth M, additional

Published
2022
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24. Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

Author

Koene, Saskia, primary, Klerx‐Melis, Floortje, additional, Roest, Arno Anne Willem, additional, Kleijwegt, Maarten Cornelis, additional, Bootsma, Marianne, additional, Haak, Monique C., additional, van Haeringen, Meike Heleen, additional, Ruivenkamp, Claudia Antoinette Laetitia, additional, Nibbeling, Esther Anne Rieky, additional, and van Haeringen, Arie, additional

Published
2022
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25. Peak and Fixed-Time High-Sensitive Troponin for Prediction of Infarct Size, Impaired Left Ventricular Function, and Adverse Outcomes in Patients With First ST-Segment Elevation Myocardial Infarction Receiving Percutaneous Coronary Intervention

Author

Boden, Helèn, Ahmed, Tarek A.N., Velders, Matthijs A., van der Hoeven, Bas L., Hoogslag, Georgette E., Bootsma, Marianne, le Cessie, Saskia, Cobbaert, Christa M., Delgado, Victoria, van der Laarse, Arnoud, and Schalij, Martin J.

Published
2013
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26. Abstract 20814: High Rate of Atrial Arrhythmias in Individuals With Truncating Titin Mutations Including the First Dilated Cardiomyopathy Related Titin Founder Mutation

Author

Hoorntje, Edgar T, van Spaendonck-Zwarts, Karin Y, te Rijdt, Wouter P, Boven, Ludolf, Vink, Aryan, van der Smagt, Jasper J, Asselbergs, Folkert W, van Wijngaarden, Jan, Hennekam, Eric A, Pinto, Yigal, Lekanne Deprez, Ronald H, Barge-Schaapveld, Daniela Q, Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M, Jongbloed, Jan D, van den Berg, Maarten P, and van Tintelen, J. P

Published
2017

29. Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Author

Meucci, Maria Chiara, primary, Lillo, Rosa, additional, Lombardo, Antonella, additional, Lanza, Gaetano A, additional, Bootsma, Marianne, additional, Butcher, Steele C, additional, Massetti, Massimo, additional, Manna, Raffaele, additional, Bax, Jeroen J, additional, Crea, Filippo, additional, Ajmone Marsan, Nina, additional, and Graziani, Francesca, additional

Published
2022
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30. Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Author

Meucci, Maria Chiara, Lillo, Rosa, Lombardo, Antonella, Lanza, Gaetano A, Bootsma, Marianne, Butcher, Steele C, Massetti, Massimo, Manna, Raffaele, Bax, Jeroen J, Crea, Filippo, Ajmone Marsan, Nina, Graziani, Francesca, Lombardo, Antonella (ORCID:0000-0003-3162-1830), Lanza, Gaetano A (ORCID:0000-0003-2187-6653), Massetti, Massimo (ORCID:0000-0002-7100-8478), Manna, Raffaele (ORCID:0000-0003-1560-3907), Crea, Filippo (ORCID:0000-0001-9404-8846), Graziani, Francesca (ORCID:0000-0002-4520-5689), Meucci, Maria Chiara, Lillo, Rosa, Lombardo, Antonella, Lanza, Gaetano A, Bootsma, Marianne, Butcher, Steele C, Massetti, Massimo, Manna, Raffaele, Bax, Jeroen J, Crea, Filippo, Ajmone Marsan, Nina, Graziani, Francesca, Lombardo, Antonella (ORCID:0000-0003-3162-1830), Lanza, Gaetano A (ORCID:0000-0003-2187-6653), Massetti, Massimo (ORCID:0000-0002-7100-8478), Manna, Raffaele (ORCID:0000-0003-1560-3907), Crea, Filippo (ORCID:0000-0001-9404-8846), and Graziani, Francesca (ORCID:0000-0002-4520-5689)

Published
2022

32. Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Author

Copier, Jaël S, Bootsma, Marianne, Ng, Chai A, Wilde, Arthur A M, Bertels, Robin A, Bikker, Hennie, Christiaans, Imke, Crabben, Saskia N van der, Hol, Janna A, Koopmann, Tamara T, Knijnenburg, Jeroen, Lommerse, Aafke A J, Smagt, Jasper J van der, Bezzina, Connie R, Vandenberg, Jamie I, Verkerk, Arie O, Barge-Schaapveld, Daniela Q C M, and Lodder, Elisabeth M

Published
2023
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33. Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy.

Author

Meucci, Maria Chiara, Lillo, Rosa, Lombardo, Antonella, Lanza, Gaetano A, Bootsma, Marianne, Butcher, Steele C, Massetti, Massimo, Manna, Raffaele, Bax, Jeroen J, Crea, Filippo, Marsan, Nina Ajmone, and Graziani, Francesca

Subjects
GENETIC mutation, CARDIAC hypertrophy, LEFT ventricular hypertrophy, COMPARATIVE studies, RESEARCH funding, ANGIOKERATOMA corporis diffusum
Abstract

Aims To perform a comparative analysis of right ventricle (RV) myocardial mechanics, assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry disease and patients with sarcomeric disease. Methods and results Patients with Fabry cardiomyopathy (FC) (n = 28) were compared with patients with sarcomeric hypertrophic cardiomyopathy (HCM), matched for degree of left ventricle hypertrophy (LVH) and demographic characteristics (n = 112). In addition, patients with Fabry disease and no LVH [phenotype-negative carriers of pathogenic α-galactosidase gene mutations (GLA LVH-)] (n = 28) were compared with age and sex-matched carriers of sarcomeric gene mutations without LVH [Phenotype-negative carriers of pathogenic sarcomeric gene mutations (Sarc LVH-)] (n = 56). Standard echocardiography and 2D-STE were performed in all participants. Despite a subtle impairment of RV global longitudinal strain (RV-GLS) was common in both groups, patients with FC showed a more prominent reduction of RV free wall longitudinal strain (RV-FWS) and lower values of difference between RV-FWS and RV-GLS (ΔRV strain), in comparison to individuals with HCM (P < 0.001 and P = 0.002, respectively). RV-FWS and ΔRV strain demonstrated an independent and additive value in discriminating FC from HCM, over the presence of symmetric LVH, systolic anterior motion of the mitral valve and RV hypertrophy. Similar results were found in GLA LVH- patients: they had worse RV-FWS and lower values of ΔRV strain as compared to Sarc LVH- patients (both P < 0.001). Conclusion Patients with FC show a specific pattern of RV myocardial mechanics, characterized by a larger impairment of RV-FWS and lower ΔRV strain in comparison to patients with HCM, which may be helpful in the differential diagnosis between these two diseases. [ABSTRACT FROM AUTHOR]

Published
2023
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35. 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
2021
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49. In-ambulance abciximab administration in STEMI patients prior to primary PCI is associated with smaller infarct size, improved LV function and lower incidence of heart failure: Results from the Leiden MISSION! acute myocardial infarction treatment optimization program

Author

Hassan, Ayman K. M., Liem, Su San, van der Kley, Frank, Bergheanu, Sandrin C., Wolterbeek, Ron, Bosch, Jan, Bootsma, Marianne, Zeppenfeld, Katja, van der Laarse, Arnoud, Atsma, Douwe E., Jukema, Wouter J., and Schalij, Martin J.

Published
2009
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