Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity

Rush, Eric T.; L, Li; Goodwin, Jennifer L.; Kreikemeier, Rose; Craft, Mary; Danford, David A.; Kutty, Shelby

doi:10.1136/heartjnl-2016-310099

Cited by 14 publications

(6 citation statements)

References 25 publications

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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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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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“…Recent studies of children with osteogenesis imperfecta have shown variable cardiac findings, including increased aortic diameter, diastolic dysfunction, and electrophysiological alterations. 4,8,15 Rush et al 7 conducted a cohort study with 100 children diagnosed with osteogenesis imperfecta that also paired 100 controls using body surface area. They reported larger aortic diameter, larger left ventricle internal diameter, and smaller left ventricle mass in children with osteogenesis imperfecta type 1 compared to their controls.…”

Section: Discussionmentioning

confidence: 99%

“…6 The aorta and most arteries are also rich in collagen types III and I, and many cardiac problems are associated with collagen matrix accumulation, depletion, or restructuring, such as those caused by type III and V collagen alterations, fibrillin I alterations, and those responsible for the aortic diseases associated with Marfan syndrome and Ehlers-Danlos syndrome. [6][7][8] Osteogenesis imperfecta has been described primarily as a bone disorder, but recent studies have suggested that its morbidity and mortality are often related to secondary cardiac and respiratory problems, although skeletal deformities are still the main problem. Myocardial dysfunction and valve disease have been described in many osteogenesis imperfecta cases, mainly in adults.…”

Section: Introductionmentioning

confidence: 99%

Echocardiographic study in children with osteogenesis imperfecta

et al. 2020

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Background: Osteogenesis imperfecta is a collagen type I bone disorder. Recently, extra-skeletal manifestations have been described, including many cardiovascular alterations. This study aims to report echocardiogram study in children with osteogenesis imperfecta compared to a control group. Methods: A cross-sectional comparative study took place in the Reference Center for Treatment of Osteogenesis Imperfecta in Southern Brazil. Fifty-four patients with osteogenesis imperfecta were paired with 54 controls, based on body surface area, and echocardiogram findings were compared. Results: All cases were asymptomatic for cardiac manifestations. The case group presented significant larger values in aortic diameter, left atrium diameter, left ventricule end-diastolic diameter, left ventricule end-systolic diameter, and right ventricle diameter compared with the control group. The analysis considering the severity of osteogenesis imperfecta shows that in mild osteogenesis imperfecta, the aortic diameter (p < 0.001), left atrium diameter (p = 0.002), left ventricule end-diastolic diameter (p = 0.001), left ventricule end-systolic diameter (p = 0.026), and right ventricle diameter (p < 0.001) were significantly larger than in the control group. Patients with moderate/severe osteogenesis imperfecta had similar results, with aortic diameter (p < 0.001), left atrium diameter (p < 0.001), left ventricule end-diastolic diameter (p = 0.013), and left ventricule end-systolic diameter (0.004) statistically larger than controls. Twenty-six (48.1%) of the cases had physiological tricuspid regurgitation and in controls this finding was observed in eight (14.8%) (p < 0.001). Conclusion: Children with osteogenesis imperfecta presented cardiac function within the normal pattern, but dimensions of left ventricular dimensions were increased compared to the ones of the controls.

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“…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: 85%

Section: Other Genes Mutationsmentioning

confidence: 81%

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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Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity

Cited by 14 publications

References 25 publications

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

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

Echocardiographic study in children with osteogenesis imperfecta

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

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