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3. Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology.

Author

Verdonk, Sara J. E., Storoni, Silvia, Zhytnik, Lidiia, Micha, Dimitra, van den Aardweg, Joost G., Kamp, Otto, Eekhoff, Elisabeth M. W., and Bugiani, Marianna

Subjects
FETAL heart, GROWTH disorders, OSTEOGENESIS imperfecta, HEMATOXYLIN & eosin staining, EMBRYOLOGY, FETUS
Abstract

Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II fetuses, aiming to address this gap. Methods: Medical records and autopsy reports of 6 genetically confirmed OI type II cases were examined. Fetuses had pathogenic variants in COL1A1 or PPIB, inducing structural defects in collagen type I. In addition to hematoxylin and eosin and Elastic van Gieson staining, the expression of collagen type I, COL1A1 and COL1A2 chains was examined by immunohistochemistry. Results: Immunohistochemistry confirmed robust expression of collagen type I throughout the heart. Five fetuses had normal heart weight, while 1 had a low heart weight in the context of generalized growth retardation. None displayed structural heart anomalies. Conclusion: This study reveals robust collagen type I expression in the hearts of OI type II fetuses without structural anomalies. We hypothesize that collagen type I abnormalities may not be causative factors for heart anomalies during early embryonic development. Instead, their impact may be conceivably related to an increased susceptibility to degenerative changes later in life. [ABSTRACT FROM AUTHOR]

Published
2025
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6. Osteogenesis Imperfecta: New Insights into Extraskeletal Complications

Author

Storoni, Silvia and Storoni, Silvia

Abstract

This thesis aims at expanding our understanding of Osteogenesis Imperfecta (OI), a genetic disorder causing bone fragility and a range of extraskeletal symptoms. The work examines in particular the epidemiology and the extraskeletal comorbidities of the Dutch OI population. Additionally, the thesis sheds light on the genotype-phenotype correlation and the pathophysiology of the respiratory complications associated with OI. The first part of the thesis discusses the prevalence and hospital admission rates of the Dutch OI population, the genotype-phenotype relation of OI, and the health care characteristics of patients with LRP5, PLS3, or WNT1 pathogenic variants. The second part of the thesis focuses on the pulmonary complications of OI patients. A literature review provides an overview of the current knowledge and knowledge gaps surrounding the pathophysiology of respiratory complications in OI. To gain further insight into the cause of pulmonary complications, the lung pathology in patients with OI type II was analyzed, suggesting intrinsic alterations in the OI lung parenchyma. The second part of this thesis concludes by proposing a more patient-friendly lung function assessment and a pulmonary follow-up plan for OI patients for the prevention of serious respiratory complications. Finally, the third part of the thesis provides an overview of collagen regulation in the context of recent gene discoveries and describes two OI patient with new SPARC pathogenic variants.

Published
2023
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7. From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients

Author

MS Orthopaedie Algemeen, Regenerative Medicine and Stem Cells, Storoni, Silvia, Verdonk, Sara J.E., Zhytnik, Lidiia, Pals, Gerard, Treurniet, Sanne, Elting, Mariet W., Sakkers, Ralph J.B., van den Aardweg, Joost G., Eekhoff, Elisabeth M.W., Micha, Dimitra, MS Orthopaedie Algemeen, Regenerative Medicine and Stem Cells, Storoni, Silvia, Verdonk, Sara J.E., Zhytnik, Lidiia, Pals, Gerard, Treurniet, Sanne, Elting, Mariet W., Sakkers, Ralph J.B., van den Aardweg, Joost G., Eekhoff, Elisabeth M.W., and Micha, Dimitra

Published
2023

10. Novel Pathogenic Variants in Sparc as Cause of Osteogenesis Imperfecta: Two Case Reports

Author

Storoni, Silvia, primary, Celli, Luca, additional, Zhytnik, Lidiia, additional, Maasalu, Katre, additional, Märtson, Aare, additional, Kõks, Sulev, additional, Khmyzov, Sergey, additional, Pashenko, Andrei, additional, Maugeri, Alessandra, additional, Zambrano, Anna, additional, Celli, Mauro, additional, Eekhoff, Elisabeth M.W., additional, and Micha, Dimitra, additional

Published
2023
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11. Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

Author

Storoni, Silvia, Treurniet, Sanne, Maugeri, Alessandra, Pals, Gerard, van den Aardweg, Joost G., van der Pas, Stéphanie L., Elting, Mariet W., Kloen, Peter, Micha, Dimitra, Eekhoff, Elisabeth Marelise W., Internal medicine, Amsterdam Movement Sciences, Human genetics, Pulmonary medicine, Epidemiology and Data Science, Amsterdam Reproduction & Development (AR&D), AMS - Rehabilitation & Development, AMS - Tissue Function & Regeneration, AMS - Musculoskeletal Health, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes, Pulmonology, ACS - Pulmonary hypertension & thrombosis, Orthopedic Surgery and Sports Medicine, APH - Personalized Medicine, APH - Quality of Care, and ACS - Diabetes & metabolism

Subjects
Adult, Adolescent, Endocrinology, Diabetes and Metabolism, Infant, Newborn, Infant, morbidity, Osteogenesis Imperfecta, Hospitals, Hospitalization, hospital admission, Young Adult, CBS registry, pathogenic variant, Child, Preschool, Prevalence, Quality of Life, Humans, Registries, Child, Netherlands
Abstract

Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and collagen-related proteins. Bone fragility is the most common patient issue, but extraskeletal complications also present an adverse factor in the quality of life and prognosis of patients with OI. However, still little is known about the morbidity and mortality of these patients. The objective of this paper is to determine and describe to what extent OI impacts patients’ life in terms of hospitalization and complications describing the incidence and prevalence of the Dutch cohort of OI patients and the characteristics of their hospital admissions. Information regarding OI patients and their hospital admission was extracted from the Statistics Netherlands Database and matched to the OI Genetics Database of Amsterdam UMC. Hospital admission data was available for 674 OI patients. This OI nationwide registry study shows that the life expectancy of OI patients is adversely affected by the disease. The median annual incidence risk of OI between 1992 and 2019 was 6.5 per 100,000 live births. Furthermore, patients with OI had a 2.9 times higher hospitalization rate compared to the general Dutch population. The highest hospitalization rate ratio of 8.4 was reported in the patient group between 0 and 19 years old. OI type and severity had impact on extraskeletal manifestations, which play a key role in the numerous hospital admissions. More awareness about the impact of OI on patients’ life is needed to improve and implement prevention and follow-up guidelines.

Published
2022
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12. Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology

Author

Verdonk, Sara J. E., Storoni, Silvia, Zhytnik, Lidiia, Micha, Dimitra, van den Aardweg, Joost G., Kamp, Otto, Eekhoff, Elisabeth M. W., and Bugiani, Marianna

Abstract

Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II fetuses, aiming to address this gap.Methods: Medical records and autopsy reports of 6 genetically confirmed OI type II cases were examined. Fetuses had pathogenic variants in COL1A1or PPIB, inducing structural defects in collagen type I. In addition to hematoxylin and eosin and Elastic van Gieson staining, the expression of collagen type I, COL1A1 and COL1A2 chains was examined by immunohistochemistry.Results: Immunohistochemistry confirmed robust expression of collagen type I throughout the heart. Five fetuses had normal heart weight, while 1 had a low heart weight in the context of generalized growth retardation. None displayed structural heart anomalies.Conclusion: This study reveals robust collagen type I expression in the hearts of OI type II fetuses without structural anomalies. We hypothesize that collagen type I abnormalities may not be causative factors for heart anomalies during early embryonic development. Instead, their impact may be conceivably related to an increased susceptibility to degenerative changes later in life.

Published
2024
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