Publications
Below you can find a list of our published research.
Below you can find a list of our published research.
111 results
Heart rhythm, 16 3 2024, Pages S1547-5271(24)00276-5 Comparing adolescent- and adult-onset unexplained cardiac arrest: Results from the Dutch Idiopathic VF Registry. Verheul LM, Hoeksema WF, Groeneveld SA, Mulder BA, Bootsma M, Alings M, Evertz R, Blank AC, Kammeraad JAE, Clur SB, Yap SC, Postema PG, Wilde AAM, Volders PGA, Hassink RJ
Background: Current cohorts of patients with idiopathic ventricular fibrillation (IVF) primarily include adult-onset patients. Underlying causes of sudden cardiac arrest vary with age; therefore, underlying causes and disease course may differ for adolescent-onset vs adult-onset patients. Objective: The purpose of this study was to compare adolescent-onset with adult-onset patients having an initially unexplained cause of VF. Methods: The study included 39 patients with an index event aged ≤19 y... Abstract
Clinical genetics, 29 5 2024 Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia. Pham C, Koopmann TT, Vinocur JM, Blom NA, Nogueira Silbiger V, Mittal K, Bootsma M, Palm KCA, Clur SB, Barge-Schaapveld DQCM, Hamilton RM, Lodder EM
Genetic missense variants in TNNI3K, encoding troponin-I interacting kinase, have been associated with dilated cardiomyopathy (DCM) and observed in families with supraventricular tachycardias (SVT). Previously, a family harboring the TNNI3K-c.1615A > G (p.Thr539Ala) variant presented with congenital junctional ectopic tachycardia (CJET), an arrhythmia that arises from the atrioventricular (AV) node and His bundle. However, this was a relatively small four-generational family with limited gene... Abstract
European heart journal. Cardiovascular Imaging, 27 4 2024, Pages jeae054 Mitral Annular Disjunction in Idiopathic Ventricular Fibrillation Patients: Just a Bystander or a Potential Cause? Verheul LM, Guglielmo M, Groeneveld SA, Kirkels FP, Scrocco C, Cramer MJ, Bootsma M, Kapel GFL, Alings M, Evertz R, Mulder BA, Prakken NHJ, Balt JC, Volders PGA, Hirsch A, Yap SC, Postema PG, Nijveldt R, Velthuis BK, Behr ER, Wilde AAM, Hassink RJ
Aims: Previously, we demonstrated that inferolateral mitral annular disjunction (MAD) is more prevalent in patients with idiopathic ventricular fibrillation (IVF) than in healthy controls. In the present study, we advanced the insights into the prevalence and ventricular arrhythmogenicity by inferolateral MAD in an even larger IVF cohort. Methods and results: This retrospective multicentre study included 185 IVF patients (median age 39 [27, 52] years, 40% female). Cardiac magnetic resonance imag... Abstract
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, Volume 25, Issue 11, 1 1 2023, Pages euad336 The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview. Verheul LM, van der Ree MH, Groeneveld SA, Mulder BA, Christiaans I, Kapel GFL, Alings M, Bootsma M, Barge-Schaapveld DQCM, Balt JC, Yap SC, Krapels IPC, Ter Bekke RMA, Volders PGA, van der Crabben SN, Postema PG, Wilde AAM, Dooijes D, Baas AF, Hassink RJ
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 recor... Abstract
Cited 1 times since 2023 (1.7 per year) source: EuropePMC
BMC medicine, Volume 21, Issue 1, 25 4 2023, Pages 365 Diagnostic and societal impact of implementing the syncope guidelines of the European Society of Cardiology (SYNERGY study). Ghariq M, van den Hout WB, Dekkers OM, Bootsma M, de Groot B, Groothuis JGJ, Harms MPM, Hemels MEW, Kaal ECA, Koomen EM, de Lange FJ, Peeters SYG, van Rossum IA, Rutten JHW, van Zwet EW, van Dijk JG, Thijs RD, SYNERGY Consortium
Background: Syncope management is fraught with unnecessary tests and frequent failure to establish a diagnosis. We evaluated the potential of implementing the 2018 European Society of Cardiology (ESC) Syncope Guidelines regarding diagnostic yield, accuracy and costs. Methods: A multicentre pre-post study in five Dutch hospitals comparing two groups of syncope patients visiting the emergency department: one before intervention (usual care; from March 2017 to February 2019) and one afterwards (fro... Abstract
Journal of clinical medicine, Volume 12, Issue 17, 30 5 2023, Pages 5654 One-Year Mortality in Patients Undergoing an Implantable Cardioverter Defibrillator or Cardiac Resynchronization Therapy Pulse Generator Replacement: Identifying Patients at Risk. Feijen M, Egorova AD, Kuijken T, Bootsma M, Schalij MJ, van Erven L
Implantable cardioverter defibrillators (ICDs) significantly contribute to the prevention of sudden cardiac death in selected patients. However, it is essential to identify those who are likely to not have benefit from an ICD and to defer a pulse generator exchange. Easily implementable guidelines for individual risk stratification and decision making are lacking. This study investigates the 1-year mortality of patients who underwent an ICD or cardiac resynchronization therapy with defibrillator... Abstract
Cited 1 times since 2023 (1.3 per year) source: EuropePMC
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, Volume 31, Issue 7-8, 28 4 2023, Pages 315-323 The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant. Bos TA, Piers SRD, Wessels MW, Houweling AC, Bökenkamp R, Bootsma M, Bosman LP, Evertz R, Hellebrekers DMEI, Hoedemaekers YM, Knijnenburg J, Lekanne Deprez R, van Mil AM, Te Riele ASJM, van Slegtenhorst MA, Wilde AAM, Yap SC, Dooijes D, Koopmann TT, van Tintelen JP, Barge-Schaapveld DQCM, European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart
Background: The arrhythmogenic cardiomyopathy (ACM) phenotype, with life-threatening ventricular arrhythmias and heart failure, varies according to genetic aetiology. We aimed to characterise the phenotype associated with the variant c.1211dup (p.Val406Serfs*4) in the plakophilin‑2 gene (PKP2) and compare it with previously reported Dutch PKP2 founder variants. Methods: Clinical data were collected retrospectively from medical records of 106 PKP2 c.1211dup heterozygous carriers. Using data from... Abstract
Seminars in radiation oncology, Volume 33, Issue 3, 1 1 2023, Pages 243-251 Machine Learning & Molecular Radiation Tumor Biomarkers. Rydzewski NR, Helzer KT, Bootsma M, Shi Y, Bakhtiar H, Sjöström M, Zhao SG
Developing radiation tumor biomarkers that can guide personalized radiotherapy clinical decision making is a critical goal in the effort towards precision cancer medicine. High-throughput molecular assays paired with modern computational techniques have the potential to identify individual tumor-specific signatures and create tools that can help understand heterogenous patient outcomes in response to radiotherapy, allowing clinicians to fully benefit from the technological advances in molecular... Abstract
Cited 5 times since 2023 (4.8 per year) source: EuropePMC
BMC biology, Volume 21, Issue 1, 11 2 2023, Pages 76 Genome-wide association reveals host-specific genomic traits in Escherichia coli. Tiwari SK, van der Putten BCL, Fuchs TM, Vinh TN, Bootsma M, Oldenkamp R, La Ragione R, Matamoros S, Hoa NT, Berens C, Leng J, Álvarez J, Ferrandis-Vila M, Ritchie JM, Fruth A, Schwarz S, Domínguez L, Ugarte-Ruiz M, Bethe A, Huber C, Johanns V, Stamm I, Wieler LH, Ewers C, Fivian-Hughes A, Schmidt H, Menge C, Semmler T, Schultsz C
Background: Escherichia coli is an opportunistic pathogen which colonizes various host species. However, to what extent genetic lineages of E. coli are adapted or restricted to specific hosts and the genomic determinants of such adaptation or restriction is poorly understood. Results: We randomly sampled E. coli isolates from four countries (Germany, UK, Spain, and Vietnam), obtained from five host species (human, pig, cattle, chicken, and wild boar) over 16 years, from both healthy and diseased... Abstract
Cited 1 times since 2023 (0.9 per year) source: EuropePMC
Human molecular genetics, Volume 32, Issue 7, 1 1 2023, Pages 1072-1082 Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance. Copier JS, Bootsma M, Ng CA, Wilde AAM, Bertels RA, Bikker H, Christiaans I, van der Crabben SN, Hol JA, Koopmann TT, Knijnenburg J, Lommerse AAJ, van der Smagt JJ, Bezzina CR, Vandenberg JI, Verkerk AO, Barge-Schaapveld DQCM, Lodder EM
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-phe... Abstract
Cited 5 times since 2023 (4.3 per year) source: EuropePMC
European heart journal. Cardiovascular Imaging, Volume 24, Issue 4, 1 1 2023, Pages 542-551 Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy. Meucci MC, Lillo R, Lombardo A, Lanza GA, Bootsma M, Butcher SC, Massetti M, Manna R, Bax JJ, Crea F, Ajmone Marsan N, Graziani F
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 d... Abstract
Cited 3 times since 2022 (2.3 per year) source: EuropePMC
Circulation. Genomic and precision medicine, Volume 16, Issue 1, 29 5 2022, Pages e003672 Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating Variant. Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J
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 hi... Abstract
Cited 1 times since 2022 (0.7 per year) source: EuropePMC
Ecology and evolution, Volume 12, Issue 12, 14 2 2022, Pages e9591 A new GTSeq resource to facilitate multijurisdictional research and management of walleye <i>Sander vitreus</i>. Euclide PT, Larson WA, Bootsma M, Miller LM, Scribner KT, Stott W, Wilson CC, Latch EK
Conservation and management professionals often work across jurisdictional boundaries to identify broad ecological patterns. These collaborations help to protect populations whose distributions span political borders. One common limitation to multijurisdictional collaboration is consistency in data recording and reporting. This limitation can impact genetic research, which relies on data about specific markers in an organism's genome. Incomplete overlap of markers between separate studies c... Abstract
Cited 3 times since 2022 (2.1 per year) source: EuropePMC
Clinical cancer research : an official journal of the American Association for Cancer Research, Volume 28, Issue 24, 1 1 2022, Pages 5396-5404 Intrinsic Molecular Subtypes of Metastatic Castration-Resistant Prostate Cancer. Feng E, Rydzewski NR, Zhang M, Lundberg A, Bootsma M, Helzer KT, Lang JM, Aggarwal R, Small EJ, Quigley DA, Sjöström M, Zhao SG
Purpose: Although numerous biology-driven subtypes have been described previously in metastatic castration-resistant prostate cancer (mCRPC), unsupervised molecular subtyping based on gene expression has been less studied, especially using large cohorts. Thus, we sought to identify the intrinsic molecular subtypes of mCRPC and assess molecular and clinical correlates in the largest combined cohort of mCRPC samples with gene expression data available to date. Experimental design: We combined and... Abstract
Cited 4 times since 2022 (2.8 per year) source: EuropePMC
JACC. Clinical electrophysiology, Volume 9, Issue 3, 30 5 2022, Pages 345-355 Importance of Systematic Diagnostic Testing in Idiopathic Ventricular Fibrillation: Results From the Dutch iVF Registry. Groeneveld SA, Verheul LM, van der Ree MH, Mulder BA, Scholten MF, Alings M, van der Voort P, Bootsma M, Evertz R, Balt JC, Yap SC, Doevendans PAFM, Postema PG, Wilde AAM, Volders PGA, Hassink RJ
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 in... Abstract
Cited 5 times since 2022 (3.5 per year) source: EuropePMC
Communications medicine, Volume 2, Issue 1, 19 3 2022, Pages 146 The importance of sustained compliance with physical distancing during COVID-19 vaccination rollout. Teslya A, Rozhnova G, Pham TM, van Wees DA, Nunner H, Godijk NG, Bootsma M, Kretzschmar ME
Background: Increasing vaccination coverage against SARS-CoV-2 enabled relaxation of lockdowns in many countries in Europe. As the vaccination rollouts progressed, the public health authorities were seeking recommendations on the continuation of physical distancing measures during ongoing vaccination rollouts. Compliance with these measures was declining while more transmissible virus variants have emerged. Methods: We used a SARS-CoV-2 transmission model to investigate the feedback between comp... Abstract
Cited 6 times since 2022 (4 per year) source: EuropePMC
The Journal of clinical investigation, Volume 132, Issue 21, 1 1 2022, Pages e161858 A clinical-grade liquid biomarker detects neuroendocrine differentiation in prostate cancer. Zhao SG, Sperger JM, Schehr JL, McKay RR, Emamekhoo H, Singh A, Schultz ZD, Bade RM, Stahlfeld CN, Gilsdorf CS, Hernandez CI, Wolfe SK, Mayberry RD, Krause HM, Bootsma M, Helzer KT, Rydzewski N, Bakhtiar H, Shi Y, Blitzer G, Kyriakopoulos CE, Kosoff D, Wei XX, Floberg J, Sethakorn N, Sharifi M, Harari PM, Huang W, Beltran H, Choueiri TK, Scher HI, Rathkopf DE, Halabi S, Armstrong AJ, Beebe DJ, Yu M, Sundling KE, Taplin ME, Lang JM
BackgroundNeuroendocrine prostate cancer (NEPC) is an aggressive subtype, the presence of which changes the prognosis and management of metastatic prostate cancer.MethodsWe performed analytical validation of a Circulating Tumor Cell (CTC) multiplex RNA qPCR assay to identify the limit of quantification (LOQ) in cell lines, synthetic cDNA, and patient samples. We next profiled 116 longitudinal samples from a prospectively collected institutional cohort of 17 patients with metastatic prostate canc... Abstract
Cited 1 times since 2022 (0.6 per year) source: EuropePMC
American journal of medical genetics. Part A, Volume 188, Issue 12, 24 4 2022, Pages 3510-3515 Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family. Koene S, Klerx-Melis F, Roest AAW, Kleijwegt MC, Bootsma M, Haak MC, van Haeringen MH, Ruivenkamp CAL, Nibbeling EAR, van Haeringen A
Haplo-insufficiency of the TGFβ-activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities, hearing loss, and cardiac disease. Skeletal dysplasia and sacral dimples are also found in a minority of patients. Here, we describe a 3-generation family with caudal appendage, other sacral anomalies, and skeletal abnormalities including hypoplasia of the iliac wings and scapulae, fusion of the carpal bones and stenosis of the s... Abstract
The American journal of cardiology, Volume 179, 15 3 2022, Pages 64-69 Effects of Left Bundle Branch Block and Pacemaker Implantation on Left Ventricular Systolic Function After Transcatheter Aortic Valve Implantation. Dolci G, Singh GK, Wang X, van der Kley F, de Weger A, Bootsma M, Ajmone Marsan N, Bax JJ, Delgado V
Permanent pacemaker implantation (PPI) and left bundle branch block (LBBB) frequency after transcatheter aortic valve implantation (TAVI) and their effect on left ventricular ejection fraction (LVEF) remain controversial. We evaluated the incidence of PPI and new-onset LBBB after TAVI and their impact on LVEF at 6-month follow-up. Moreover, the impact of right ventricular (RV) pacing burden on changes in LVEF after TAVI was analyzed. The electrocardiograms of 377 patients (age 80 ± 7 years, 52%... Abstract
Cited 3 times since 2022 (1.7 per year) source: EuropePMC
Antimicrobial resistance and infection control, Volume 11, Issue 1, 15 3 2022, Pages 98 Duration of rectal colonization with extended-spectrum beta-lactamase-producing Escherichia coli: results of an open, dynamic cohort study in Dutch nursing home residents (2013-2019). Weterings V, van den Bijllaardt W, Bootsma M, Hendriks Y, Kilsdonk L, Mulders A, Kluytmans J
Background: In 2016, a study in a Dutch nursing home showed prolonged colonization duration of extended-spectrum β-lactamase-producing (ESBL)-ST131 compared to ESBL-non-ST131. In this study, we assessed the duration of rectal ESBL-producing E. coli (ESBL-EC) colonization in residents in the same nursing home for an extended period of six years. We aimed to estimate the influence of a possible bias when follow up is started during an outbreak. Methods: Between 2013 and 2019, repetitive point prev... Abstract