A case-control study of early-stage radiological markers of endothelial dysfunction and cardiovascular findings in patients with osteogenesis imperfecta: genotype-phenotype correlations

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dc.authoridOzen, Samim/0000-0001-7037-2713
dc.authoridEvin, Ferda/0000-0001-7169-890X
dc.authorscopusid57220114978
dc.authorscopusid58675081500
dc.authorscopusid6602578908
dc.authorscopusid57193881141
dc.authorscopusid58675635600
dc.authorscopusid6603109306
dc.authorwosidOzen, Samim/A-4342-2016
dc.contributor.authorEvin, Ferda
dc.contributor.authorAydin, Derya
dc.contributor.authorLevent, Ertuerk
dc.contributor.authorOezen, Samim
dc.contributor.authorDarcan, Suekran
dc.contributor.authorGökşen, Damla
dc.date.accessioned2024-08-25T18:35:59Z
dc.date.available2024-08-25T18:35:59Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractObjectives: Osteogenesis imperfecta (OI) is a disease caused by defective collagen synthesis. Collagen type 1 is found in many structures in the cardiovascular system. Endothelial dysfunction, which develops prior to the emergence of structural and clinical signs of atherosclerosis, is believed to play a key role in atherogenesis. Endothelial dysfunction may be detected presymptomatically by non-invasive radiologic methods, such as flow-mediated dilatation (FMD) and carotid intima-media thickness (CIMT). These modalities may provide early indicators of endothelial dysfunction. This cross-sectional comparative study aimed to investigate early-stage radiological markers of endothelial dysfunction and cardiovascular diseases in OI patients and healthy controls and to investigate the correlation of findings with OI genotype.Methods: Thirty patients diagnosed with OI were paired with thirty healthy age- and gender-matched controls and echocardiogram findings were compared.Results: None of the patients had known underlying cardiovascular disease. The mean age was 13.18 +/- 2.91 years. According to Sillence classification, 15 patients had Type 1 OI, 10 had Type III, and 5 had Type IV. Mean CIMT in the OI group was higher in the control group (OI group: 0.42 +/- 0.06 vs. healthy controls: 0.34 +/- 0.04 mm, p<0.01), and mean FMD percent was lower in the patient group (p<0.01). Left ventricular ejection fraction was 78.97 +/- 10.32 vs. 77.56 +/- 8.50 %, (OI group: 7.00 +/- 3.06 vs. healthy controls: 12.14 +/- 1.99, p=0.56), and fractional shortening was 42.68 +/- 11.94 vs. 40.23 +/- 7.99 %, (p=0.35), in OI patients and controls, respectively.Conclusions: Pediatric patients with OI without clinical signs of cardiovascular abnormality had significantly worse CIMT and FMD findings than healthy controls. However, no difference was determined when comparing left ventricular ejection fraction or fractional shortening. OI patients may need to be screened for cardiovascular system complications starting from an early age.en_US
dc.description.sponsorshipWe thank all the patients and their relatives for their contributions to this research.en_US
dc.description.sponsorshipWe thank all the patients and their relatives for their contributions to this research.en_US
dc.identifier.doi10.1515/jpem-2023-0215
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.pmid37859607en_US
dc.identifier.scopus2-s2.0-85175434789en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2023-0215
dc.identifier.urihttps://hdl.handle.net/11454/100490
dc.identifier.wosWOS:001087222700001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240825_Gen_US
dc.subjectosteogenesis imperfectaen_US
dc.subjectcarotid intima-media thicknessen_US
dc.subjectcardiovascular diseasesen_US
dc.subjectechocardiographyen_US
dc.subjectflow-mediated dilatationen_US
dc.subjectIntima-Media Thicknessen_US
dc.subjectBrachial-Arteryen_US
dc.subjectHeart-Diseaseen_US
dc.subjectTei Indexen_US
dc.subjectChildrenen_US
dc.subjectRisken_US
dc.subjectAdultsen_US
dc.titleA case-control study of early-stage radiological markers of endothelial dysfunction and cardiovascular findings in patients with osteogenesis imperfecta: genotype-phenotype correlationsen_US
dc.typeArticleen_US

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