Echocardiographic study in children with osteogenesis imperfecta

Pinheiro, Bruna S; Barrios, Patrícia; Souza, Liliane Todeschini de; Félix, Têmis Maria

doi:10.1017/s1047951120002474

Cited by 7 publications

(9 citation statements)

References 19 publications

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“…In this study, we found OI children had significant higher percentage of mild mitral or triple valve regurgitation than control group, which was worthy of a long-term follow-up. We did not find moderate to severe valvular prolapse or regurgitation in this OI cohort, which was consistent with other studies in OI children ( 33 ). This difference of detection rate of valvular abnormalities between OI children and adults indicated that cardiovascular diseases might develop with aging in OI patients, so it was necessary to evaluate the cardiovascular structure and function of OI patients during the long-term follow-up.…”

Section: Discussionsupporting

confidence: 93%

“…In a small sample study, OI children were found to have greater dimensions of the main aorta and LVEDd than control group, but without significant change in heart function ( 31 ). Compare with control group, OI children exhibited larger LV internal dimensions and dilated main pulmonary arteries ( 32 , 33 ). Our study confirmed the alterations of heart and aorta in OI children, including larger internal diameters of MPA and left heart chambers, with lower LVEF than BSA-matched healthy children.…”

Section: Discussionmentioning

confidence: 87%

“…A study in 58 OI children found no cardiac abnormalities in type I OI patients, but cardiac alterations existed in type III OI children, including increased aortic root diameter and LVPW thickness ( 34 ). A recent comparative study showed that mild and moderate-severe OI patients both had larger internal diameters of the main pulmonary artery and left heart than control group, but only the moderate-severe group had lower LVEF than control group ( 33 ). In our study, echocardiographic abnormalities existed both in mild and moderate-severe OI patients, and there were no significant differences in echocardiographic measurements between these two subgroups.…”

Section: Discussionmentioning

confidence: 99%

Section: Other Genes Mutationsmentioning

confidence: 91%

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Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta

Zhao

Liu²,

Liu³

et al. 2022

Front. Endocrinol.

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Background and objectivesOsteogenesis imperfecta (OI) is a rare disorder of abnormal production or modification of type I collagen, which is caused by mutations in COL1A1, COL1A2 or other genes. We investigate the cardiac abnormalities and its correlation with pathogenic mutations in OI children.MethodsA cross-sectional comparative study was completed in a relatively large sample of OI children, who were matched in body surface area (BSA) with healthy controls. All echocardiography was performed by experienced cardiologists using Vivid 7 equipment (GE Medical Systems, Horton, Norway). The resting standard 12-lead electrocardiogram (ECG) were obtained in OI patients by FX-8600 machine. Skeletal phenotypes of OI patients were evaluated, including information of bone fractures, deformities, motility, and bone mineral density (BMD). Pathogenic mutations of OI were detected by a next-generation sequencing panel and confirmed by Sanger sequencing.ResultsA total of 69 OI children and 42 healthy children matched in BSA were enrolled. Abnormalities of echocardiography were found in 6 OI children, including enlarged left atrium (n=5), increased internal diameter of the left ventricle (n=1), who all carried the COL1A1 mutation. Mild regurgitation of mitral or tricuspid valves was observed in 26 OI patients. Abnormal ECG manifestations were found in 8 OI children, including deep Q wave, T wave change, premature ventricular complexes, short P-R interval, incomplete bundle branch block and high voltage of left ventricular. Compared with healthy controls, OI children had significant larger values in the main pulmonary artery (1.84 vs 1.60 cm, P < 0.01), left atrial diameter (2.58 vs 2.11 cm, P < 0.001), left ventricular internal dimension at end-diastolic (LVEDd) (3.85 vs 3.50 cm, P < 0.05) and lower left ventricular ejection fraction (LVEF) (68.40% vs 71.74%, P < 0.01). Moreover, OI patients with COL1A1 mutation tended to have greater main pulmonary artery, larger diameters of left atrial and LVEDd, and lower LVEF than healthy controls. COL1A1 mutation was correlated to dilated MPA (β = 1.557, P < 0.01), LAD (β = 3.915, P < 0.001), and LVEDd (β = 2.714, P < 0.01), and decreased LVEF (β = -3.249, P < 0.01).ConclusionsCardiovascular alterations were identified in OI children, including increased dimensions of the main pulmonary artery and left chamber, and low LVEF. The cardiovascular abnormalities seemed to be correlated to COL1A1 mutation and defects of type I collagen, which expanded our understandings of the cardiac phenotypes of OI children.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Other Genes Mutationsmentioning

confidence: 91%

See 2 more Smart Citations

Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta

Zhao

Liu²,

Liu³

et al. 2022

Front. Endocrinol.

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“…Few records of conditions unrelated to hearing loss were identified ( n = 2). Most records included adults [ 13 , 29 , 31 , 89 , 90 , 93 , 96 , 101 , 106 , 111 , 115 , 116 , 122 , 123 , 190 , 212 , 215 – 219 ] Cardiovascular 15 Records provided clinical heart measurements ( n = 11) and information on valvular disease ( n = 8), while heart failure ( n = 2), hypertension ( n = 3) and atrial fibrillation ( n = 1) were not well-described [ 13 , 29 , 139 , 142 , 151 , 170 , 175 , 182 – 184 , 220 – 224 ] Pulmonary 11 Four records described breathing problems and respiratory disease. Few data on wheezing ( n = 2) and respiratory arrest ( n = 1) were identified.…”

Section: Resultsmentioning

confidence: 99%

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Rapoport¹,

Bober

Raggio

et al. 2023

Orphanet J Rare Dis

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Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society. Methods A systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995–18th December 2021. Searches were restricted to English language but without geographical limitations. The quality of included records was assessed using the AGREE II checklist and an adapted version of the JBI cross-sectional study checklist. Results Of the identified 7,850 records, 271 records of 245 unique studies met the inclusion criteria; overall, 168 included records examined clinical aspects of OI, 67 provided humanistic data, 6 reported on the economic impact of OI, and 30 provided data on mixed outcomes. Bone conditions, anthropometric measurements, oral conditions, diagnostic techniques, use of pharmacotherapy, and physical functioning of adults and children with OI were well described. However, few records included current care practice, diagnosis and monitoring, interactions with the healthcare system, or transition of care across life stages. Limited data on wider health concerns beyond bone health, how these concerns may impact health-related quality of life, in particular that of adult men and other family members, were identified. Few records described fatigue in children or adults. Markedly few records provided data on the socioeconomic impact of OI on patients and their caregivers, and associated costs to healthcare systems, and wider society. Most included records had qualitative limitations. Conclusion Despite the rarity of OI, the volume of recently published literature highlights the breadth of interest in the OI field from the research community. However, significant data gaps describing the experience of OI for individuals, their families, and wider society warrant further research to capture and quantify the full impact of OI.

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Osteogenesis Imperfecta and Related Diseases: Collagen I Alterations in Skeletal and Extraskeletal Tissues

Gatto,

Pérez Franco,

Hoyer-Kuhn

et al. 2024

Biology of Extracellular Matrix

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Echocardiographic study in children with osteogenesis imperfecta

Cited by 7 publications

References 19 publications

Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta

Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Osteogenesis Imperfecta and Related Diseases: Collagen I Alterations in Skeletal and Extraskeletal Tissues

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