{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:33:35Z","timestamp":1777937615944,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10935266241272511","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T04:43:56Z","timestamp":1724733836000},"page":"24-30","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5992-6789","authenticated-orcid":false,"given":"Sara J. E.","family":"Verdonk","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, The Netherlands"},{"name":"Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands"},{"name":"Amsterdam Movement Sciences, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Storoni","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, The Netherlands"},{"name":"Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands"},{"name":"Amsterdam Movement Sciences, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidiia","family":"Zhytnik","sequence":"additional","affiliation":[{"name":"Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands"},{"name":"Amsterdam Movement Sciences, Amsterdam, The Netherlands"},{"name":"Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, The Netherlands"},{"name":"Department of Traumatology and Orthopaedics, The University of Tartu, Tartu, Estonia"},{"name":"Amsterdam Reproduction and Development, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitra","family":"Micha","sequence":"additional","affiliation":[{"name":"Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands"},{"name":"Amsterdam Movement Sciences, Amsterdam, The Netherlands"},{"name":"Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, The Netherlands"},{"name":"Amsterdam Reproduction and Development, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joost G.","family":"van den Aardweg","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Otto","family":"Kamp","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Amsterdam University Medical Center, Vrije Universiteit, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth M. W.","family":"Eekhoff","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, The Netherlands"},{"name":"Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands"},{"name":"Amsterdam Movement Sciences, Amsterdam, The Netherlands"},{"name":"Amsterdam Reproduction and Development, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianna","family":"Bugiani","sequence":"additional","affiliation":[{"name":"Department of Pathology, Amsterdam University Medical Center, Academic Medical Center, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,8,27]]},"reference":[{"key":"bibr1-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"},{"key":"bibr2-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2016.09.107"},{"key":"bibr3-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(94)90612-2"},{"key":"bibr4-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5273(93)90139-8"},{"key":"bibr5-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0149020"},{"issue":"2","key":"bibr6-10935266241272511","first-page":"175","volume":"18","author":"Taksande A","year":"2008","journal-title":"Iran J Pediatr"},{"key":"bibr7-10935266241272511","doi-asserted-by":"publisher","DOI":"10.3109\/15513818809022279"},{"key":"bibr8-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1971.tb02471.x"},{"key":"bibr9-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1827.1969.tb00713.x"},{"key":"bibr10-10935266241272511","first-page":"190","author":"Himakhun W","year":"2012","journal-title":"J Med Assoc Thai"},{"key":"bibr11-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(61)80016-8"},{"key":"bibr12-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.52"},{"key":"bibr13-10935266241272511","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02302-2"},{"key":"bibr14-10935266241272511","unstructured":"Leiden Open Variation Database. 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