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3. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Demirdas, Serwet, primary, van den Bersselaar, Lisa M., additional, Lechner, Rosan, additional, Bos, Jessica, additional, Alsters, Suzanne I.M., additional, Baars, Marieke J.H., additional, Baas, Annette F., additional, Baysal, Özlem, additional, van der Crabben, Saskia N., additional, Dulfer, Eelco, additional, Giesbertz, Noor A.A., additional, Helderman-van den Enden, Apollonia T.J.M., additional, Hilhorst-Hofstee, Yvonne, additional, Kempers, Marlies J.E., additional, Komdeur, Fenne L., additional, Loeys, Bart, additional, Majoor-Krakauer, Daniëlle, additional, Ockeloen, Charlotte W., additional, Overwater, Eline, additional, van Tintelen, Peter J., additional, Voorendt, Marsha, additional, de Waard, Vivian, additional, Maugeri, Alessandra, additional, Brüggenwirth, Hennie T., additional, van de Laar, Ingrid M.B.H., additional, and Houweling, Arjan C., additional

Published
2024
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4. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, Houweling, Arjan C, Genetica Klinische Genetica, Circulatory Health, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Cancer, Child Health, Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, and Houweling, Arjan C

Published
2024

5. Vascular Ehlers-Danlos Syndrome:A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Author

Demirdas, Serwet, van den Bersselaar, Lisa M., Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I.M., Baars, Marieke J.H., Baas, Annette F., Baysal, Özlem, van der Crabben, Saskia N., Dulfer, Eelco, Giesbertz, Noor A.A., Helderman-Van den Enden, Apollonia T.J.M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies J.E., Komdeur, Fenne L., Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W., Overwater, Eline, van Tintelen, Peter J., Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H., Houweling, Arjan C., Demirdas, Serwet, van den Bersselaar, Lisa M., Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I.M., Baars, Marieke J.H., Baas, Annette F., Baysal, Özlem, van der Crabben, Saskia N., Dulfer, Eelco, Giesbertz, Noor A.A., Helderman-Van den Enden, Apollonia T.J.M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies J.E., Komdeur, Fenne L., Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W., Overwater, Eline, van Tintelen, Peter J., Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H., and Houweling, Arjan C.

Abstract

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. RESULTS: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (P=0.90), but occurred at a younger age (P=0.01). A major event occurred more often and at a younger age in men compared with women (P<0.001 and P=0.004, respectively). Aortic aneurysms (P=0.003) and pneumothoraces (P=0.029) were more frequent in men. Aortic dissection was more frequent in individuals with a COL3A1 variant in the first quarter of the collagen helical domain (P=0.03). CONCLUSIONS: Male sex, type and location of the COL3A1 variant, and physical appearance highly suggestive of vEDS are risk factors for the occurrence and early age of onset of major events. This national multicenter cohort study of Dutch individuals with vEDS provides a valuable basis for improving guidelines for the diagnosing, follow-up, and treatment of individuals with vEDS.

Published
2024

6. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Author

van den Bersselaar, Lisa M., primary, Verhagen, Judith M.A., additional, Bekkers, Jos A., additional, Kempers, Marlies, additional, Houweling, Arjan C., additional, Baars, Marieke, additional, Overwater, Eline, additional, Hilhorst-Hofstee, Yvonne, additional, Barge-Schaapveld, Daniela Q.C.M., additional, Rompen, Eline, additional, Krapels, Ingrid P.C., additional, Dulfer, Eelco, additional, Wessels, Marja W., additional, Loeys, Bart L., additional, Verhagen, Hence J.M., additional, Maugeri, Alessandra, additional, Roos-Hesselink, Jolien W., additional, Brüggenwirth, Hennie T., additional, and van de Laar, Ingrid M.B.H., additional

Published
2023
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7. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Author

van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., and van de Laar, Ingrid M.B.H.

Published
2024
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8. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

Author

Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A.M., Baars, Marieke J.H., Dulfer, Eelco, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P.C., van de Laar, Ingrid M.B.H., Loeys, Bart, Spaans, Alexander M.J., Warnink-Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A., Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A.M., Baars, Marieke J.H., Dulfer, Eelco, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P.C., van de Laar, Ingrid M.B.H., Loeys, Bart, Spaans, Alexander M.J., Warnink-Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., and Menke, Leonie A.

Abstract

To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS-related height increase across populations. Height and weight data of individuals with MFS aged 0–21 years were retrospectively collected. Generalized Additive Models for Location, Scale and Shape (GAMLSS) was used for growth chart modeling. To investigate genotype–phenotype relationships, FBN1 variant type was included as an independent variable in height-for-age and BMI-for-age models. MFS-related height increase was compared with that of previous MFS growth studies from the United States, Korea, and France. Height and weight data of 389 individuals with MFS were included (210 males). Height-for-age, BMI-for-age, and weight-for-height charts reflected the tall and slender MFS habitus throughout childhood. Mean increase in height of individuals with MFS compared with the general Dutch population was significantly lower than in the other three MFS populations compared to their reference populations. FBN1-HI variants were associated with taller height in both sexes, and decreased BMI in females (p-values <0.05). This Dutch MFS growth study broadens the notion that genetic background and MFS variant type (HI/DN) influence tall and slender stature in MFS.

Published
2023

9. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

Author

Lauffer, Peter, primary, Pals, Gerard, additional, Zwinderman, Aeilko H., additional, Postema, Floor A. M., additional, Baars, Marieke J. H., additional, Dulfer, Eelco, additional, Hilhorst‐Hofstee, Yvonne, additional, Houweling, Arjan C., additional, Kempers, Marlies, additional, Krapels, Ingrid P. C., additional, van de Laar, Ingrid M. B. H., additional, Loeys, Bart, additional, Spaans, Alexander M. J., additional, Warnink‐Kavelaars, Jessica, additional, de Waard, Vivian, additional, Wit, Jan M., additional, and Menke, Leonie A., additional

Published
2022
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10. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Author

van den Bersselaar, Lisa M., primary, Verhagen, Judith M.A., additional, Bekkers, Jos A., additional, Kempers, Marlies, additional, Houweling, Arjan C., additional, Baars, Marieke, additional, Overwater, Eline, additional, Hilhorst-Hofstee, Yvonne, additional, Barge-Schaapveld, Daniela Q.C.M., additional, Rompen, Eline, additional, Krapels, Ingrid P.C., additional, Dulfer, Eelco, additional, Wessels, Marja W., additional, Loeys, Bart L., additional, Verhagen, Hence J.M., additional, Maugeri, Alessandra, additional, Roos-Hesselink, Jolien W., additional, Brüggenwirth, Hennie T., additional, and van de Laar, Ingrid M.B.H., additional

Published
2022
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11. Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Author

Laar, I. van de, Baas, Annette F., Backer, J. De, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T. J. M., Kempers, M.J.E., Loeys, B.L., Tanteles, George, Frank, Michael, Laar, I. van de, Baas, Annette F., Backer, J. De, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T. J. M., Kempers, M.J.E., Loeys, B.L., Tanteles, George, and Frank, Michael

Abstract

Contains fulltext : 253367.pdf (Publisher’s version ) (Open Access)

Published
2022

12. Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Author

van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H., van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., and van de Laar, Ingrid M.B.H.

Abstract

PURPOSE: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vasculopathies.METHODS: Index patients and relatives with a P/LP variant in ACTA2 were included. Data were collected through retrospective review of medical records using a standardized questionnaire.RESULTS: A total of 49 individuals from 28 families participated in our study. In total, 20 different ACTA2 variants were detected. Aortic events occurred in 65% of the cases (78.6% index patients and 47.6% relatives). Male sex and hypertension emerged as significantly associated with aortic events. Of 20 individuals, 5 had an aortic diameter of <45 mm (1.77 inches) at the time of the type A dissection. Mean age at first aortic event was 49.0 ± 12.4 years. Severe surgical complications for type A and type B dissection occurred in 25% and 16.7% of the cases and in-hospital mortality rates were 9.5% and 0%, respectively.CONCLUSION: P/LP ACTA2 variants are associated with an increased risk for an aortic event and age-related penetrance, which emphasizes the importance of early recognition of the disease. Caregivers should be aware of the risk for aortic dissections, even in individuals with aortic diameters within the normal range.

Published
2022

13. Heritable connective tissue disorders in childhood : increased fatigue, pain, disability and decreased general health

Author

Warnink-Kavelaars, Jessica, de Koning, Lisanne E., Rombaut, Lies, Alsem, Mattijs W., Menke, Leonie A., Oosterlaan, Jaap, Buizer, Annemieke, I, Engelbert, Raoul H. H., Baars, Marieke J. H., de Boer, Rosa, Braam, Katja, Dulfer, Eelco, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J. E., Krapels, Ingrid P. C., Loeys, Bart L., Van Der Looven, Ruth, Malfait, Fransiska, van Rossum, Marion A. J., Stoelinga, Femke, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Pediatric Heritable Connective Tissue Disorders Study Group, Lectoraat Fysiotherapie - Transitie van Zorg bij Complexe Patiënten, Urban Vitality, AMS - Rehabilitation & Development, ARD - Amsterdam Reproduction and Development, Rehabilitation medicine, AMS - Amsterdam Movement Sciences, Graduate School, General Paediatrics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, APH - Aging & Later Life, Clinical Neuropsychology, IBBA, and APH - Mental Health

Subjects
Male, Marfan syndrome, JOINT HYPERMOBILITY, CHILDREN, QH426-470, Loeys–Dietz syndrome, General health, Disability Evaluation, 0302 clinical medicine, Quality of life, QUALITY-OF-LIFE, syndromes, ADOLESCENTS, Medicine and Health Sciences, pain, Child, Children, Genetics (clinical), Fatigue, IMPORTANT DIFFERENCE, Disabled Children, MARFAN-SYNDROME, general health, Phenotype, medicine.anatomical_structure, Ehlers-Danlos syndromes, Child, Preschool, Female, Heritable Connective Tissue Disorders, Joint hypermobility, medicine.medical_specialty, Adolescent, IMPORTANT, Connective tissue, Pain, Article, CLASSIFICATION, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Hyper-mobile Ehlers-Danlos syndrome, Internal medicine, Genetics, medicine, Humans, 030203 arthritis & rheumatology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Disability, business.industry, NATURAL-HISTORY, medicine.disease, DIFFERENCE, Loeys-Dietz syndrome, hypermobile Ehlers-Danlos syndrome, Health assessment, disability, Ehlers–Danlos syndrome, Ehlers-Danlos Syndrome, Observational study, fatigue, Human medicine, MUSCULOSKELETAL, Ehlers-Danlos, business, 030217 neurology & neurosurgery, EHLERS-DANLOS-SYNDROME
Abstract

Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%, Loeys-Dietz syndrome (LDS), 7%, Ehlers-Danlos syndromes (EDS), 8%, and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p &lt, 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p &lt, 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p &lt, 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p &lt, 0.001, rs = 0.68), pain (p &lt, 0.001, rs = 0.64) and general health (p &lt, 0.001, rs = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.

Published
2021
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15. Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

Author

Circulatory Health, Genetica, Marsili, Luisa, Overwater, Eline, Hanna, Nadine, Baujat, Geneviève, Baars, Marieke J H, Boileau, Catherine, Bonneau, Dominique, Brehin, Anne Claire, Capri, Yline, Cheung, Ho Y, Dulfer, Eelco, Gerard, Marion, Gouya, Laurent, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C, Isidor, Bertrand, Le Gloan, Lauriane, Menke, Leonie A, Odent, Sylvie, Morice-Picard, Fanny, Vanlerberghe, Clemence, Voorhoeve, Els, van Tintelen, J Peter, Maugeri, Alessandra, Arnaud, Pauline, Circulatory Health, Genetica, Marsili, Luisa, Overwater, Eline, Hanna, Nadine, Baujat, Geneviève, Baars, Marieke J H, Boileau, Catherine, Bonneau, Dominique, Brehin, Anne Claire, Capri, Yline, Cheung, Ho Y, Dulfer, Eelco, Gerard, Marion, Gouya, Laurent, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C, Isidor, Bertrand, Le Gloan, Lauriane, Menke, Leonie A, Odent, Sylvie, Morice-Picard, Fanny, Vanlerberghe, Clemence, Voorhoeve, Els, van Tintelen, J Peter, Maugeri, Alessandra, and Arnaud, Pauline

Published
2020

16. Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

Author

Boudin, Eveline, de Jong, Tjeerd R., Prickett, Tim C.R., Lapauw, Bruno, Toye, Kaatje, Van Hoof, Viviane, Luyckx, Ilse, Verstraeten, Aline, Heymans, Hugo S.A., Dulfer, Eelco, Van Laer, Lut, Berry, Ian R., Dobbie, Angus, Blair, Ed, Loeys, Bart, Espiner, Eric A., Wit, Jan M., Van Hul, Wim, Houpt, Peter, and Mortier, Geert R.

Published
2018
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17. Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

Author

Marsili, Luisa, primary, Overwater, Eline, additional, Hanna, Nadine, additional, Baujat, Geneviève, additional, Baars, Marieke J.H., additional, Boileau, Catherine, additional, Bonneau, Dominique, additional, Brehin, Anne Claire, additional, Capri, Yline, additional, Cheung, Ho Y., additional, Dulfer, Eelco, additional, Gerard, Marion, additional, Gouya, Laurent, additional, Hilhorst‐Hofstee, Yvonne, additional, Houweling, Arjan C., additional, Isidor, Bertrand, additional, Le Gloan, Lauriane, additional, Menke, Leonie A., additional, Odent, Sylvie, additional, Morice‐Picard, Fanny, additional, Vanlerberghe, Clemence, additional, Voorhoeve, Els, additional, van Tintelen, J. Peter, additional, Maugeri, Alessandra, additional, and Arnaud, Pauline, additional

Published
2020
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18. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Author

Overwater, Eline, primary, Marsili, Luisa, additional, Baars, Marieke J.H., additional, Baas, Annette F., additional, van de Beek, Irma, additional, Dulfer, Eelco, additional, van Hagen, Johanna M., additional, Hilhorst-Hofstee, Yvonne, additional, Kempers, Marlies, additional, Krapels, Ingrid P., additional, Menke, Leonie A., additional, Verhagen, Judith M.A., additional, Yeung, Kak K., additional, Zwijnenburg, Petra J.G., additional, Groenink, Maarten, additional, van Rijn, Peter, additional, Weiss, Marjan M., additional, Voorhoeve, Els, additional, van Tintelen, J. Peter, additional, Houweling, Arjan C., additional, and Maugeri, Alessandra, additional

Published
2018
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19. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Author

Genetica Klinische Genetica, Circulatory Health, Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra, Genetica Klinische Genetica, Circulatory Health, Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M., Hilhorst-Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C., and Maugeri, Alessandra

Published
2018

20. Diagnostic yield and therapeutic implications of 25 years of specialized pediatric Marfan clinic.

Author

Accord RE, Koster C, Dulfer E, du Marchie Sarvaas GJ, Maass SWMC, Berger RMF, and van den Berg MP

Subjects
Humans, Retrospective Studies, Female, Child, Male, Child, Preschool, Adolescent, Case-Control Studies, Infant, Aortic Diseases diagnosis, Aortic Diseases therapy, Marfan Syndrome diagnosis, Marfan Syndrome therapy
Abstract

The purpose of this study is to evaluate the diagnostic and therapeutic yield of a specialized clinic for children with suspicion of a hereditary thoracic aortic disease (HTAD), including Marfan Syndrome (MFS), and to investigate the diagnostic value of presenting symptoms and findings during evaluation. This retrospective observational study included all patients younger than 18 years old at initial referral between 1998 and 2018. Clinical data, medical treatment, surgical interventions, and clinical events during surveillance were collected until December 2023. A case-control comparison between patients with and without an eventual diagnosis of HTAD was performed using logistic regression analysis to investigate the diagnostic value of collected variables. A total of 355 children were referred and evaluated at the clinic, resulting in 89 new diagnoses, with a diagnostic yield of 21% HTAD, including 59 cases of MFS. Younger age at referral, ectopia lentis, aortic dilatation, and facial features were among the strongest predictors of MFS and other HTAD, while pectus excavatum and arm span-height ratio had no predictive value at childhood age. Of patients with MFS, 65% received antihypertensive medication, and 8% of patients with HTAD underwent prophylactic aortic surgery, in some cases even during childhood. Conclusion: Evaluation of children for HTAD in our specialized Marfan clinic resulted in a high diagnostic yield and subsequent therapeutic implications. Indeed, early recognition of symptoms and signs and referral to such a specialized clinic may lead to early diagnosis, surveillance, and timely treatment, thereby possibly limiting acute aortic events and even mortality., Competing Interests: Declarations Ethical approval The study was approved by the Ethical Review Board of the UMCG. The need for patient consent was waived due to the retrospective nature of the study. Competing interest The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Published
2024
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21. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.

Author

Lauffer P, Pals G, Zwinderman AH, Postema FAM, Baars MJH, Dulfer E, Hilhorst-Hofstee Y, Houweling AC, Kempers M, Krapels IPC, van de Laar IMBH, Loeys B, Spaans AMJ, Warnink-Kavelaars J, de Waard V, Wit JM, and Menke LA

Subjects
Male, Female, Humans, Growth Charts, Retrospective Studies, Netherlands epidemiology, Mutation, Genotype, Phenotype, Fibrillin-1 genetics, Marfan Syndrome diagnosis, Marfan Syndrome epidemiology, Marfan Syndrome genetics
Abstract

To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS-related height increase across populations. Height and weight data of individuals with MFS aged 0-21 years were retrospectively collected. Generalized Additive Models for Location, Scale and Shape (GAMLSS) was used for growth chart modeling. To investigate genotype-phenotype relationships, FBN1 variant type was included as an independent variable in height-for-age and BMI-for-age models. MFS-related height increase was compared with that of previous MFS growth studies from the United States, Korea, and France. Height and weight data of 389 individuals with MFS were included (210 males). Height-for-age, BMI-for-age, and weight-for-height charts reflected the tall and slender MFS habitus throughout childhood. Mean increase in height of individuals with MFS compared with the general Dutch population was significantly lower than in the other three MFS populations compared to their reference populations. FBN1-HI variants were associated with taller height in both sexes, and decreased BMI in females (p-values <0.05). This Dutch MFS growth study broadens the notion that genetic background and MFS variant type (HI/DN) influence tall and slender stature in MFS., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2023
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