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11 results on '"Boven, L. G."'

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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3. 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

4. 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: the cardiac phenotype of DES founder mutations p.S13F and p.N342D*

Author

van Spaendonck-Zwarts, K. Y., primary, van der Kooi, A. J., additional, van den Berg, M. P., additional, Ippel, E. F., additional, Boven, L. G., additional, Yee, W.-C., additional, van den Wijngaard, A., additional, Brusse, E., additional, Hoogendijk, J. E., additional, Doevendans, P. A., additional, de Visser, M., additional, Jongbloed, J. D. H., additional, and van Tintelen, J. P., additional

Published
2014
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7. 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

8. 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

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