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2. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

Author

Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., and Baas, A. F.

Published
2021
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4. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity:an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Author

Jansen, Mark, Schmidt, A. F., Jans, J. J.M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D.H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A.M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F., Jansen, Mark, Schmidt, A. F., Jans, J. J.M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D.H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A.M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., and Baas, A. F.

Abstract

Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract obstruction, sudden cardiac death and heart failure, but severity is highly variable. In this exploratory cross-sectional study, circulating acylcarnitines were assessed as potential biomarkers in 124 MYBPC3 founder variant carriers (59 with severe HCM, 26 with mild HCM and 39 phenotype-negative [G + P-]). Elastic net logistic regression identified eight acylcarnitines associated with HCM severity. C3, C4, C6-DC, C8:1, C16, C18 and C18:2 were significantly increased in severe HCM compared to G + P-, and C3, C6-DC, C8:1 and C18 in mild HCM compared to G + P-. In multivariable linear regression, C6-DC and C8:1 correlated to log-transformed maximum wall thickness (coefficient 5.01, p = 0.005 and coefficient 0.803, p = 0.007, respectively), and C6-DC to log-transformed ejection fraction (coefficient -2.50, p = 0.004). Acylcarnitines seem promising biomarkers for HCM severity, however prospective studies are required to determine their prognostic value. Graphical abstract: [Figure not available: see fulltext.].

Published
2023

5. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Author

Onderzoek Precision medicine, Infectieziekten patientenzorg, Infection & Immunity, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Arts-assistenten Radiotherapie, Genetica Groep Van Tintelen, Cancer, Child Health, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, Baas, A F, Onderzoek Precision medicine, Infectieziekten patientenzorg, Infection & Immunity, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Arts-assistenten Radiotherapie, Genetica Groep Van Tintelen, Cancer, Child Health, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, and Baas, A F

Published
2023

6. Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy*

Author

van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M., Wilde, Arthur A.M., editor, and van Tintelen, J. Peter, editor

Published
2014
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8. Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia*

Author

van der Zwaag, P. A., Cox, M. G. P. J., van der Werf, C., Wiesfeld, A. C. P., Jongbloed, J. D. H., Dooijes, D., Bikker, H., Jongbloed, R., Suurmeijer, A. J. H., van den Berg, M. P., Hofstra, R. M. W., Hauer, R. N. W., Wilde, A. A. M., van Tintelen, J. P., Wilde, Arthur A.M., editor, and van Tintelen, J. Peter, editor

Published
2014
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12. The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update

Author

Bosman, L.P., Verstraelen, T.E., Lint, F.H.M. van, Cox, M.G.P.J., Groeneweg, J.A., Mast, T.P., Zwaag, P.A. van der, Volders, P.G.A., Evertz, R., Wong, L., Groot, N.M.S. de, Zeppenfeld, K., Heijden, J.F. van der, Berg, M.P. van den, Wilde, A.A.M., Asselbergs, F.W., Hauer, R.N.W., Riele, A.S.J.M. te, Tintelen, J.P. van, Baas, A.E., Barge-Schaapveld, D.Q.C.M., Boekholdt, S.M., Cramer, M.J.M., Dooijes, D., Jongbloed, J.D.H., Loh, P., Planken, R.N., Prakken, N.H.J., Smagt, J.J. van der, Wal, A.C. van der, Teske, A.J., Veen, T.A.B. van, Velthuis, B.K., Vink, A., Yap, S.C., Netherlands ACM Registry, Cardiology, ACS - Atherosclerosis & ischemic syndromes, ACS - Heart failure & arrhythmias, Human Genetics, Radiology and Nuclear Medicine, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Cardiovascular Centre (CVC), ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: CARIM - R2.04 - Arrhythmogenisis and cardiogenetics, Marketing & Supply Chain Management, RS: Carim - H04 Arrhythmogenesis and cardiogenetics, and Moleculaire Genetica

Subjects
Research design, RIGHT-VENTRICULAR CARDIOMYOPATHY, NON-COMPACTION, medicine.medical_specialty, Electronic data capture, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Cardiomyopathy, Arrhythmogenic right ventricular dysplasia, 030204 cardiovascular system & hematology, DIAGNOSIS, RISK STRATIFICATION, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Journal Article, 030212 general & internal medicine, Registries, business.industry, Retrospective cohort study, medicine.disease, Cardiomyopathies, 3. Good health, Data sharing, Cohort, Emergency medicine, business, Cardiology and Cardiovascular Medicine, Original Article – Design Study Article, Cohort study
Abstract

Background Clinical research on arrhythmogenic cardiomyopathy (ACM) is typically limited by small patient numbers, retrospective study designs, and inconsistent definitions. Aim To create a large national ACM patient cohort with a vast amount of uniformly collected high-quality data that is readily available for future research. Methods This is a multicentre, longitudinal, observational cohort study that includes (1) patients with a definite ACM diagnosis, (2) at-risk relatives of ACM patients, and (3) ACM-associated mutation carriers. At baseline and every follow-up visit, a medical history as well information regarding (non-)invasive tests is collected (e. g. electrocardiograms, Holter recordings, imaging and electrophysiological studies, pathology reports, etc.). Outcome data include (non-)sustained ventricular and atrial arrhythmias, heart failure, and (cardiac) death. Data are collected on a research electronic data capture (REDCap) platform in which every participating centre has its own restricted data access group, thus empowering local studies while facilitating data sharing. Discussion The Netherlands ACM Registry is a national observational cohort study of ACM patients and relatives. Prospective and retrospective data are obtained at multiple time points, enabling both cross-sectional and longitudinal research in a hypothesis-generating approach that extends beyond one specific research question. In so doing, this registry aims to (1) increase the scientific knowledge base on disease mechanisms, genetics, and novel diagnostic and treatment strategies of ACM; and (2) provide education for physicians and patients concerning ACM, e. g. through our website (www.acmregistry.nl) and patient conferences. Electronic supplementary material The online version of this article (10.1007/s12471-019-1270-1) contains supplementary material, which is available to authorized users.

Published
2019

13. Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy*

Author

van den Wijngaard, A., primary, Volders, P., additional, Van Tintelen, J. P., additional, Jongbloed, J. D. H., additional, van den Berg, M. P., additional, Lekanne Deprez, R. H., additional, Mannens, M. M. A. M., additional, Hofmann, N., additional, Slegtenhorst, M., additional, Dooijes, D., additional, Michels, M., additional, Arens, Y., additional, Jongbloed, R., additional, and Smeets, B. J. M., additional

Published
2014
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14. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands*

Author

Christiaans, I., primary, Nannenberg, E.A., additional, Dooijes, D., additional, Jongbloed, R.J.E., additional, Michels, M., additional, Postema, P.G., additional, Majoor-Krakauer, D., additional, van den Wijngaard, A., additional, Mannens, M.M.A.M., additional, van Tintelen, J.P., additional, van Langen, I.M., additional, and Wilde, A.A.M., additional

Published
2014
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15. Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia*

Author

van der Zwaag, P. A., primary, Cox, M. G. P. J., additional, van der Werf, C., additional, Wiesfeld, A. C. P., additional, Jongbloed, J. D. H., additional, Dooijes, D., additional, Bikker, H., additional, Jongbloed, R., additional, Suurmeijer, A. J. H., additional, van den Berg, M. P., additional, Hofstra, R. M. W., additional, Hauer, R. N. W., additional, Wilde, A. A. M., additional, and van Tintelen, J. P., additional

Published
2014
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16. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

Author

Jansen, M. (M.), Christiaans, I. (Imke), van der Crabben, S.N. (Saskia N.), Michels, M. (Michelle), Huurman, R. (Roy), Hoedemaekers, Y.M. (Yvonne), Dooijes, D. (D.), Jongbloed, J.D.H. (Jan), Boven, L.G. (Ludolf), Lekanne Deprez, R.H., Wilde, A.A.M. (Arthur), Jans, J. (Judith), Velden, J. (Jolanda) van der, Boer, R.A. (Rudolf) de, van Tintelen, J.P. (J. P.), Asselbergs, F.W. (F. W.), Baas, A.F. (A. F.), Jansen, M. (M.), Christiaans, I. (Imke), van der Crabben, S.N. (Saskia N.), Michels, M. (Michelle), Huurman, R. (Roy), Hoedemaekers, Y.M. (Yvonne), Dooijes, D. (D.), Jongbloed, J.D.H. (Jan), Boven, L.G. (Ludolf), Lekanne Deprez, R.H., Wilde, A.A.M. (Arthur), Jans, J. (Judith), Velden, J. (Jolanda) van der, Boer, R.A. (Rudolf) de, van Tintelen, J.P. (J. P.), Asselbergs, F.W. (F. W.), and Baas, A.F. (A. F.)

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the MYBPC3 gene. HCM is an important cause of sudden cardiac death; however, overall prognosis is good and penetrance in genotype-positive individuals is incomplete. The underlying mechanisms are poorly understood and risk stratification remains limited. Aim: To create a nationwide cohort of carriers of truncating MYBPC3 variants for identification of predictive biomarkers for HCM development and progression. Methods: In the multicentre, observational BIO FOr CARe (Identification of BIOmarkers of hypertrophic cardiomyopathy development and progression in Dutch MYBPC3 FOunder variant CARriers) cohort, carriers of the c.2373dupG, c.2827C > T, c.2864_2865delCT and c.3776delA MYBPC3 variants are included and prospectively undergo longitudinal blood collection. Clinical data are collected from first presentation onwards. The primary outcome constitutes a composite endpoint of HCM progression (maximum wall thickness ≥ 20 mm, septal reduction therapy, heart failure occurrence, sustained ventricular arrhythmia and sudden cardiac death). Results: So far, 250 subjects (median age 54.9 years (interquartile range 43.3, 66.6), 54.8% male) have been included. HCM was diagnosed in 169 subjects and dilated cardiomyopathy in 4. The primary outcome was met in 115 subjects. Blood samples were collected from 131 subjects. Conclusion: BIO FOr CARe is a genetically homogeneous, phenotypically heterogeneous cohort incorporating a clinical data registry and longitudinal blood collection. This provides a unique opportunity to study biomarkers for HCM development and prognosis. The established infrastructure can be extended to study other genetic variants. Other centres are invited to join our consortium.

Published
2021
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17. BIO FOr CARE:biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

Author

Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D.H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A.M., Jans, J. J.M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F., Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D.H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A.M., Jans, J. J.M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., and Baas, A. F.

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the MYBPC3 gene. HCM is an important cause of sudden cardiac death; however, overall prognosis is good and penetrance in genotype-positive individuals is incomplete. The underlying mechanisms are poorly understood and risk stratification remains limited. Aim: To create a nationwide cohort of carriers of truncating MYBPC3 variants for identification of predictive biomarkers for HCM development and progression. Methods: In the multicentre, observational BIO FOr CARe (Identification of BIOmarkers of hypertrophic cardiomyopathy development and progression in Dutch MYBPC3 FOunder variant CARriers) cohort, carriers of the c.2373dupG, c.2827C > T, c.2864_2865delCT and c.3776delA MYBPC3 variants are included and prospectively undergo longitudinal blood collection. Clinical data are collected from first presentation onwards. The primary outcome constitutes a composite endpoint of HCM progression (maximum wall thickness ≥ 20 mm, septal reduction therapy, heart failure occurrence, sustained ventricular arrhythmia and sudden cardiac death). Results: So far, 250 subjects (median age 54.9 years (interquartile range 43.3, 66.6), 54.8% male) have been included. HCM was diagnosed in 169 subjects and dilated cardiomyopathy in 4. The primary outcome was met in 115 subjects. Blood samples were collected from 131 subjects. Conclusion: BIO FOr CARe is a genetically homogeneous, phenotypically heterogeneous cohort incorporating a clinical data registry and longitudinal blood collection. This provides a unique opportunity to study biomarkers for HCM development and prognosis. The established infrastructure can be extended to study other genetic variants. Other centres are invited to join our consortium.

Published
2021

18. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status

Author

Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Sectie Metabole Diagnostiek, Child Health, Genetica, Cancer, Team Medisch, Jansen, M, Christiaans, I, van der Crabben, S N, Michels, M, Huurman, R, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, Jans, J J M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, Baas, A F, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Sectie Metabole Diagnostiek, Child Health, Genetica, Cancer, Team Medisch, Jansen, M, Christiaans, I, van der Crabben, S N, Michels, M, Huurman, R, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M, Jans, J J M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W, and Baas, A F

Published
2021

28. A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene

Author

Mul, K., Schouten, M.I., Looij, E. van der, Dooijes, D., Hennekam, F.A., Notermans, N.C., Praamstra, P., Gaalen, J. van, Kamsteeg, E.J., Verbeek, N.E., Warrenburg, B.P.C. van de, Mul, K., Schouten, M.I., Looij, E. van der, Dooijes, D., Hennekam, F.A., Notermans, N.C., Praamstra, P., Gaalen, J. van, Kamsteeg, E.J., Verbeek, N.E., and Warrenburg, B.P.C. van de

Abstract

Contains fulltext : 229318.pdf (Publisher’s version ) (Open Access), INTRODUCTION: This study reports a large series of patients with a clinical picture dominated by spastic paraplegia in whom variants in the NEFL gene, a known cause for Charcot-Marie-Tooth disease, were identified. METHODS: Index patients referred for a suspicion of hereditary spastic paraplegia (HSP) were clinically assessed and genetic analysis by next-generation sequencing was undertaken. Additional family members were clinically examined and subjected to targeted testing. RESULTS: We identified two different heterozygous dominant variants in the NEFL gene in 25 patients from 14 families. Most of them (21/25) had a clinical diagnosis of HSP, often with a concomitant clinical diagnosis of polyneuropathy (16/21). Two patients were identified with a polyneuropathy with a pyramidal reflex pattern, but without spasticity. Two patients had isolated polyneuropathy. Out of the 21 patients with a diagnosis of HSP, two had co-occurring cerebellar signs. The c.262A > C p.(Thr88Pro) variant was detected in 13 families. Genealogical analysis showed shared ancestors or a similar geographical origin in 12, suggesting a founder effect. The other variant, c.296A > C p.(Asp99Ala), was found in only one family, in which limited segregation analysis could be performed. DISCUSSION: Variants in the NEFL gene can cause HSP, with or without co-existing polyneuropathy, and should be included in diagnostic testing strategies for HSP patients.

Published
2020

29. A mutation update for the FLNC gene in myopathies and cardiomyopathies

Author

Verdonschot, J.A.J. (Job A. J.), Vanhoutte, E.K. (Els), Claes, G. (Godelieve), Helderman-van den Enden, A.T.J.M. (Apollonia), Hoeijmakers, J.G.J. (Janneke), Hellebrekers, D.M.E.I. (Debby), de Haan, A. (Amber), Christiaans, I. (Imke), Lekanne Deprez, R.H., Boen, H.M. (Hanne M.), Van Craenenbroeck, E.M. (Emeline M.), Loeys, B.L. (Bart), Hoedemaekers, Y.M. (Yvonne), Marcelis, C. (Carlo), Kempers, M.J.E. (Marlies), Brusse, E. (Esther), Waning, J. (Jaap) van, Baas, A.F. (Annette F.), Dooijes, D. (Dennis), Asselbergs, F.W. (Folkert W.), Barge-Schaapveld, D.Q.C.M. (Daniela), Koopman, P. (Pieter), Wijngaard, A. (Arthur) van den, Heymans, S. (Stephane), Krapels, I.P.C. (Ingrid), Brunner, H.G., Verdonschot, J.A.J. (Job A. J.), Vanhoutte, E.K. (Els), Claes, G. (Godelieve), Helderman-van den Enden, A.T.J.M. (Apollonia), Hoeijmakers, J.G.J. (Janneke), Hellebrekers, D.M.E.I. (Debby), de Haan, A. (Amber), Christiaans, I. (Imke), Lekanne Deprez, R.H., Boen, H.M. (Hanne M.), Van Craenenbroeck, E.M. (Emeline M.), Loeys, B.L. (Bart), Hoedemaekers, Y.M. (Yvonne), Marcelis, C. (Carlo), Kempers, M.J.E. (Marlies), Brusse, E. (Esther), Waning, J. (Jaap) van, Baas, A.F. (Annette F.), Dooijes, D. (Dennis), Asselbergs, F.W. (Folkert W.), Barge-Schaapveld, D.Q.C.M. (Daniela), Koopman, P. (Pieter), Wijngaard, A. (Arthur) van den, Heymans, S. (Stephane), Krapels, I.P.C. (Ingrid), and Brunner, H.G.

Abstract

Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high-throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolated hypertrophic and dilated cardiomyopathies (HCM and DCM). FLNC variants are now among the more prevalent causes of genetic DCM. FLNC-associated DCM is associated with a malignant clinical course and a high risk of sudden cardiac death. The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene. The appropriate functioning of FLNC is crucial for structural integrity and cell signaling of the sarcomere. The secondary protein structure of FLNC is critical to ensure this function. Truncating variants with subsequent haploinsufficiency are associated with DCM and cardiac arrhythmias. Interference with the dimerization and folding of the protein leads to aggregate formation detrime

Published
2020
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37. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

Author

Verhagen, J.M.A., Veldman, J.H., Zwaag, P.A. van der, Thusen, J.H. von der, Brosens, E., Christiaans, M., Dooijes, D., Helderman-van den Enden, A.T.J.M., Deprez, R.H.L., Michels, M., Mil, A.M. van, Oldenburg, R.A., Smagt, J.J. van der, Wijngaard, A. van den, Wessels, M.W., Hofstra, R.M.W., Slegtenhorst, M.A. van, Jongbloed, J.D.H., and Laar, I.M.B.H. van de

Published
2018

38. The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update

Author

Bosman, L.P. (L. P.), Verstraelen, T.E. (T. E.), van Lint, F.H.M. (F. H.M.), Cox, M.G.P.J. (Moniek), Groeneweg, J.A. (Judith), Mast, T.P. (T. P.), Zwaag, P.A. (Paul) van der, Volders, P.G.A. (Paul), Evertz, R. (Reinder), Wong, L. (L.), Groot, N.M.S. (Natasja) de, Zeppenfeld, K. (Katja), Heijden, J.F. (Jeroen) van der, Berg, M.P. (Maarten) van den, Wilde, A.A.M. (Arthur), Asselbergs, F.W. (Folkert), Hauer, R.N.W. (Richard), Riele, A.S. (Anneline) te, van Tintelen, J.P. (J. P.), Baas, A.F. (A. F.), Barge-Schaapveld, D.Q.C.M. (Daniela), Boekholdt, S.M. (Matthijs), Cramer, M.J.M. (M. J.M.), Dooijes, D. (D.), Jongbloed, J.D.H. (Jan), Loh, P. (Peter), Planken, R.N. (R. N.), Prakken, N.H.J. (N. H.J.), Smagt, J.J. (Jasper) van der, van der Wal, A.C. (A. C.), Teske, A.J. (A. J.), Veen, T.A.B. (Toon) van, Velthuis, B.K. (Birgitta), Vink, A. (Ard), Yap, S.C. (S. C.), Bosman, L.P. (L. P.), Verstraelen, T.E. (T. E.), van Lint, F.H.M. (F. H.M.), Cox, M.G.P.J. (Moniek), Groeneweg, J.A. (Judith), Mast, T.P. (T. P.), Zwaag, P.A. (Paul) van der, Volders, P.G.A. (Paul), Evertz, R. (Reinder), Wong, L. (L.), Groot, N.M.S. (Natasja) de, Zeppenfeld, K. (Katja), Heijden, J.F. (Jeroen) van der, Berg, M.P. (Maarten) van den, Wilde, A.A.M. (Arthur), Asselbergs, F.W. (Folkert), Hauer, R.N.W. (Richard), Riele, A.S. (Anneline) te, van Tintelen, J.P. (J. P.), Baas, A.F. (A. F.), Barge-Schaapveld, D.Q.C.M. (Daniela), Boekholdt, S.M. (Matthijs), Cramer, M.J.M. (M. J.M.), Dooijes, D. (D.), Jongbloed, J.D.H. (Jan), Loh, P. (Peter), Planken, R.N. (R. N.), Prakken, N.H.J. (N. H.J.), Smagt, J.J. (Jasper) van der, van der Wal, A.C. (A. C.), Teske, A.J. (A. J.), Veen, T.A.B. (Toon) van, Velthuis, B.K. (Birgitta), Vink, A. (Ard), and Yap, S.C. (S. C.)

Abstract

Background: Clinical research on arrhythmogenic cardiomyopathy (ACM) is typically limited by small patient numbers, retrospective study designs, and inconsistent definitions. Aim: To create a large national ACM patient cohort with a vast amount of uniformly collected high-quality data that is readily available for future research. Methods: This is a multicentre, longitudinal, observational cohort study that includes (1) patients with a definite ACM diagnosis, (2) at-risk relatives of ACM patients, and (3) ACM-associated mutation carriers. At baseline and every follow-up visit, a medical history as well information regarding (non-)invasive tests is collected (e. g. electrocardiograms, Holter recordings, imaging and electrophysiological studies, pathology reports, etc.). Outcome data include (non-)sustained ventricular and atrial arrhythmias, heart failure, and (cardiac) death. Data are collected on a research electronic data capture (REDCap) platform in which every participating centre has its own restricted data access group, thus empowering local studies while facilitating data sharing. Discussion: The Netherlands ACM Registry is a national observational cohort study of ACM patients and relatives. Prospective and retrospective data are obtained at multiple time points, enabling both cross-sectional and longitudinal research in a hypothesis-generating approach that extends beyond one specific research question. In so doing, this registry aims to (1) increase the scientific knowledge base on disease mechanisms, genetics, and novel diagnostic and treatment strategies of ACM; and (2) provide education for physicians and patients concerning ACM, e. g. through our website (www.acmregistry.nl) and patient conferences.

Published
2019
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39. Evaluation of gene panels for inherited cardiac disease—is less more?

Author

Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Experimentele Afd. Cardiologie 1, Genetica Klinische Genetica, Dooijes, D., Siemelink, M., Baas, A. F., Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Experimentele Afd. Cardiologie 1, Genetica Klinische Genetica, Dooijes, D., Siemelink, M., and Baas, A. F.

Published
2019

40. UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking

Author

Device, Onderzoek Precision medicine, Genetica, Genetica Klinische Genetica, Team Medisch, Circulatory Health, Regenerative Medicine and Stem Cells, Pathologie Stafondersteuning, Pathologie Pathologen staf, Genetica Sectie Genoomdiagnostiek, Arts Assistenten Cardiologie, Sammani, A., Jansen, M., Linschoten, M., Bagheri, A., de Jonge, N., Kirkels, H., van Laake, L. W., Vink, A., van Tintelen, J. P., Dooijes, D., te Riele, A. S.J.M., Harakalova, M., Baas, A. F., Asselbergs, F. W., Device, Onderzoek Precision medicine, Genetica, Genetica Klinische Genetica, Team Medisch, Circulatory Health, Regenerative Medicine and Stem Cells, Pathologie Stafondersteuning, Pathologie Pathologen staf, Genetica Sectie Genoomdiagnostiek, Arts Assistenten Cardiologie, Sammani, A., Jansen, M., Linschoten, M., Bagheri, A., de Jonge, N., Kirkels, H., van Laake, L. W., Vink, A., van Tintelen, J. P., Dooijes, D., te Riele, A. S.J.M., Harakalova, M., Baas, A. F., and Asselbergs, F. W.

Published
2019

41. The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update

Author

Bosman, LP, Verstraelen, TE, van Lint, FHM, Cox, M, Groeneweg, JA, Mast, TP, van der Zwaag, PA, Volders, PG, Evertz, R, Wong, L, de Groot, Natasja, Zeppenfeld, K, van der Heijden, JF, Van Den Berg, MP, Wilde, AA, Asselbergs, FW, Hauer, RN, te Riele, A, Tintelen, JP, Baas, AE, Barge-Schaapveld, D, Boekholdt, SM, Cramer, MJM, Dooijes, D, Jongbloed, JD, Loh, P, Planken, RN, Prakken, NHJ, van der Smagt, JJ, v.d. Wal, AC, Teske, AJ, van Veen, TA, Velthuis, BK, Vink, A, Yap, Sing, Bosman, LP, Verstraelen, TE, van Lint, FHM, Cox, M, Groeneweg, JA, Mast, TP, van der Zwaag, PA, Volders, PG, Evertz, R, Wong, L, de Groot, Natasja, Zeppenfeld, K, van der Heijden, JF, Van Den Berg, MP, Wilde, AA, Asselbergs, FW, Hauer, RN, te Riele, A, Tintelen, JP, Baas, AE, Barge-Schaapveld, D, Boekholdt, SM, Cramer, MJM, Dooijes, D, Jongbloed, JD, Loh, P, Planken, RN, Prakken, NHJ, van der Smagt, JJ, v.d. Wal, AC, Teske, AJ, van Veen, TA, Velthuis, BK, Vink, A, and Yap, Sing

Published
2019

42. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

Author

Cuenca S., Barriales-Villa R., Franaszczyk M., Coronado-Albi M.J., Rangel-Sousa D., Jiménez-Jáimez J., Ripoll-Vera T., Mogollón-Jiménez M.V., Fontalba-Romero A., Palomino-Doza J., Salas C., Hey T.M., Elliott P., Eiskjær H., Barriales R., Fernández Fernández X., Cicerchia M., Monserrat L., Ochoa J.P., Salazar-Mendiguchia J., Mogollón M.V., Ripoll T., Charron P., Richard P., Villard E., Palomino Doza J., Fontalba A., Alonso-Pulpón L., Cobo-Marcos M., Domínguez F., Garcia-Pavia P., Gómez-Bueno M., González-López E., Hernández-Hernández A., Hernández-Pérez F.J., López-Sainz Á., Restrepo-Córdoba A., Segovia-Cubero J., Toro R., de Gonzalo-Calvo D., Rosa Longobardo F., Limeres J., Rodriguez-Palomares J.F., Garcia-Pinilla J.M., López-Garrido M.A., Jiménez-Jaimez J., Garcia-Medina D., Rangel Sousa D., Peña M.L., Mogensen J., Morris-Hey T., Barton P.J., Cook S.A., Midwinter W., Roberts A.M., Ware J.S., Walsh R., Akhtar M., Elliott P.M., Rocha-Lopes L., Savvatis K., Syrris P., Michalak E., Ploski R., Sobieszczanska-Malek M., Bilinska Z., Pankuweit S., Asselbergs F., Baas A., Dooijes D., and Sammani A.

Subjects
Cardiomyopathy, Dilated, BAG3 protein, human, Adolescent, sex difference, electrocardiography, retrospective study, nonsense mutation, heart failure, signal transducing adaptor protein, protein localization, heart transplantation, Article, sudden cardiac death, BLC2 associated athanogene 3 gene, Cohort Studies, male, cardiovascular mortality, congestive cardiomyopathy, middle aged, follow up, chaperone, cardiovascular parameters, controlled study, genetics, human, gene mutation, penetrance, BAG3 protein, pathophysiology, Adaptor Proteins, Signal Transducing, Electroca, adult, apoptosis regulatory protein, clinical trial, cohort analysis, major clinical study, human tissue, unclassified drug, left ventricular enddiastolic diameter, multicenter study, female, priority journal, immunohistochemistry, young adult, prognosis, mutation, Apoptosis Regulatory Proteins, heart ventricle arrhythmia, heart left ventricle ejection fraction
Abstract

Background: The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. Objectives: This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort. Methods: The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry. Results: At first evaluation, 57.4% of patients had DCM. After a median follow-up of 38 months (interquartile range: 7 to 95 months), 68.4% of patients had DCM and 26.1% who were initially phenotype-negative developed DCM. Disease penetrance in individuals >40 years of age was 80% at last evaluation, and there was a trend towards an earlier onset of DCM in men (age 34.6 ± 13.2 years vs. 40.7 ± 12.2 years; p = 0.053). The incidence of adverse cardiac events (death, left ventricular assist device, heart transplantation, and sustained ventricular arrhythmia) was 5.1% per year among individuals with DCM. Male sex, decreased left ventricular ejection fraction. and increased left ventricular end-diastolic diameter were associated with adverse cardiac events. Myocardial tissue from patients with a BAG3 mutation showed myofibril disarray and a relocation of BAG3 protein in the sarcomeric Z-disc. Conclusions: DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure. Male sex, decreased left ventricular ejection fraction, and enlarged left ventricular end-diastolic diameter are associated with adverse outcomes in patients with BAG3 mutations. © 2018 American College of Cardiology Foundation

Published
2018

43. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

Author

Verhagen, J.M.A. (Judith), Veldman, J.H. (Job H.), Zwaag, P.A. (Paul) van der, Thusen, J.H. (Jan) von der, Brosens, E. (Erwin), Christiaans, I. (Imke), Dooijes, D. (Dennis), Helderman-van den Enden, A.T.J.M. (Apollonia), Lekanne Deprez, R.H., Michels, M. (Michelle), Mil, A.M. (Anneke) van, Oldenburg, R.A. (Rogier A.), Smagt, J.J. (Jasper) van der, Wijngaard, A. (Arthur) van den, Wessels, M.W. (Marja), Hofstra, R.M.W. (Robert), Slegtenhorst, M.A. (Marjon) van, Jongbloed, J.D.H. (Jan), Laar, I.M.B.H. (Ingrid) van de, Verhagen, J.M.A. (Judith), Veldman, J.H. (Job H.), Zwaag, P.A. (Paul) van der, Thusen, J.H. (Jan) von der, Brosens, E. (Erwin), Christiaans, I. (Imke), Dooijes, D. (Dennis), Helderman-van den Enden, A.T.J.M. (Apollonia), Lekanne Deprez, R.H., Michels, M. (Michelle), Mil, A.M. (Anneke) van, Oldenburg, R.A. (Rogier A.), Smagt, J.J. (Jasper) van der, Wijngaard, A. (Arthur) van den, Wessels, M.W. (Marja), Hofstra, R.M.W. (Robert), Slegtenhorst, M.A. (Marjon) van, Jongbloed, J.D.H. (Jan), and Laar, I.M.B.H. (Ingrid) van de

Abstract

The pathogenicity of previously published disease-associated genes and variants is sometimes questionable. Large-scale, population-based sequencing studies have uncovered numerous false assignments of pathogenicity. Misinterpretation of sequence variants may have serious implications for the patients and families involved, as genetic test results are increasingly being used in medical decision making. In this study, we assessed the role of the calreticulin-3 gene (CALR3) in cardiomyopathy. CALR3 has been included in several cardiomyopathy gene panels worldwide. Its inclusion is based on a single publication describing two missense variants in patients with hypertrophic cardiomyopathy. In our national cardiomyopathy cohort (n = 6154), we identified 17 unique, rare heterozygous CALR3 variants in 48 probands. Overall, our patient cohort contained a significantly higher number of rare CALR3 variants compared to the ExAC population (p = 0.0036). However, after removing a potential Dutch founder variant, no statistically significant difference was found (p = 0.89). In nine probands, the CALR3 variant was accompanied by a disease-causing variant in another, well-known cardiomyopathy gene. In three families, the CALR3 variant did not segregate with the disease. Furthermore, we could not demonstrate calreticulin-3 protein expression in myocardial tissues at various ages. On the basis of these findings, it seems highly questionable that variants in CALR3 are a monogenic cause of cardiomyopathy.

Published
2018
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44. Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

Author

Verhagen, Judith, Veldman, JH (Job), van der Zwaag, PA, von der Thüsen, Jan, Brosens, Erwin, Christiaans, M, Dooijes, D, Helderman-van d Enden, A, Deprez, RHL, Michels, Michelle, Mil, AM, Oldenburg, Rogier, van der Smagt, JJ, van den Wijngaard, A, Wessels, Marja, Hofstra, Robert, van Slegtenhorst, Marjon, Jongbloed, JDH, De Graaf - van de Laar, Ingrid, Verhagen, Judith, Veldman, JH (Job), van der Zwaag, PA, von der Thüsen, Jan, Brosens, Erwin, Christiaans, M, Dooijes, D, Helderman-van d Enden, A, Deprez, RHL, Michels, Michelle, Mil, AM, Oldenburg, Rogier, van der Smagt, JJ, van den Wijngaard, A, Wessels, Marja, Hofstra, Robert, van Slegtenhorst, Marjon, Jongbloed, JDH, and De Graaf - van de Laar, Ingrid

Published
2018

45. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Author

Nibbeling, E.A., Duarri, A., Verschuuren-Bemelmans, C.C., Fokkens, M.R., Karjalainen, J.M., Smeets, C., Boer-Bergsma, J.J. de, Vries, G. de, Dooijes, D., Bampi, G.B., Diemen, C., Brunt, E., Ippel, E., Kremer, B., Vlak, M., Adir, N., Wijmenga, C., Warrenburg, B.P.C. van de, Franke, L., Sinke, R.J., Verbeek, D.S., Nibbeling, E.A., Duarri, A., Verschuuren-Bemelmans, C.C., Fokkens, M.R., Karjalainen, J.M., Smeets, C., Boer-Bergsma, J.J. de, Vries, G. de, Dooijes, D., Bampi, G.B., Diemen, C., Brunt, E., Ippel, E., Kremer, B., Vlak, M., Adir, N., Wijmenga, C., Warrenburg, B.P.C. van de, Franke, L., Sinke, R.J., and Verbeek, D.S.

Abstract

Item does not contain fulltext, The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons. We validated almost all genes genetically, assessed damaging effects of the gene variants in cell models and further consolidated a role for several of these genes in the aetiology of spinocerebellar ataxia through network analysis. Our work links spinocerebellar ataxia to alterations in synaptic transmission and transcription regulation, and identifies these as the main shared mechanisms underlying the genetically diverse spinocerebellar ataxia types.

Published
2017

49. Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree

Author

van der Pol, W.L., Leijenaar, J.F., Spliet, W.G.M., Lavrijsen, S.W., Jansen, N.J.G., Braun, K.P.J., Mulder, M., Timmers-Raaijmaakers, B.C.M.S., Ratsma, K., Dooijes, D., van Haelst, MM, and Universiteit Utrecht

Subjects
International (English), Geneeskunde (GENK), Bescherming en bevordering van de menselijke gezondheid, Geneeskunde(GENK), Medical sciences, General [Econometric and Statistical Methods]
Abstract

Nemaline myopathy (NM) is genetically heterogeneous disorder characterized by early onset muscular weakness and sarcoplasmatic or intranuclear inclusions of rod-shaped Z-disk material in muscle fibers. Thus far, mutations in seven genes have been identified as cause of NM. Only one single TNNT1 nonsense mutation has been previously described that causes autosomal recessive NM in the old order Amish with a very specific clinical phenotype including rapidly progressive contractures. Here, we report a patient who is compound heterozygous for a c.309+1G>A mutation and an exon 14 deletion in the TNNT1 gene. This report confirms the specific clinical phenotype of TNNT1 NM and documents two new TNNT1 mutations outside the old order Amish.

Published
2014

50. Sequence-specific High Mobility Group Box Factors Recognize 10–12-Base Pair Minor Groove Motifs

Author

Beest, M., Dooijes, D., Wetering, M., Kjaerulff, S., Bonvin, A., Olaf Nielsen, Clevers, H., NMR-spectroscopie, NMR Spectroscopy 1, and Hubrecht Institute for Developmental Biology and Stem Cell Research

Subjects
Models, Molecular, Binding Sites, Magnetic Resonance Spectroscopy, Base Sequence, Sequence Homology, Amino Acid, Protein Conformation, Molecular Sequence Data, DNA Footprinting, High Mobility Group Proteins, DNA, Cell Biology, DNA Methylation, Biochemistry, Fungal Proteins, International, Taverne, Amino Acid Sequence, Schizosaccharomyces pombe Proteins, Molecular Biology, Transcription Factors
Abstract

Sequence-specific high mobility group (HMG) box factors bind and bend DNA via interactions in the minor groove. Three-dimensional NMR analyses have provided the structural basis for this interaction. The cognate HMG domain DNA motif is generally believed to span 6-8 bases. However, alignment of promoter elements controlled by the yeast genes ste11 and Rox1 has indicated strict conservation of a larger DNA motif. By site selection, we identify a highly specific 12-base pair motif for Ste11, AGAACAAAGAAA. Similarly, we show that Tcf1, MatMc, and Sox4 bind unique, highly specific DNA motifs of 12, 12, and 10 base pairs, respectively. Footprinting with a deletion mutant of Ste11 reveals a novel interaction between the 3' base pairs of the extended DNA motif and amino acids C-terminal to the HMG domain. The sequence-specific interaction of Ste11 with these 3' base pairs contributes significantly to binding and bending of the DNA motif.

Published
2000

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