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Endocrinol."],"abstract":"<jats:sec><jats:title>Background and objectives<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a rare disorder of abnormal production or modification of type I collagen, which is caused by mutations in <jats:italic>COL1A1<\/jats:italic>, <jats:italic>COL1A2<\/jats:italic> or other genes. We investigate the cardiac abnormalities and its correlation with pathogenic mutations in OI children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 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 <jats:italic>COL1A1<\/jats:italic> 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\u00a0cm, <jats:italic>P<\/jats:italic> &amp;lt; 0.01), left atrial diameter (2.58 vs 2.11\u00a0cm, <jats:italic>P<\/jats:italic> &amp;lt; 0.001), left ventricular internal dimension at end-diastolic (LVEDd) (3.85 vs 3.50\u00a0cm, <jats:italic>P<\/jats:italic> &amp;lt; 0.05) and lower left ventricular ejection fraction (LVEF) (68.40% vs 71.74%, <jats:italic>P<\/jats:italic> &amp;lt; 0.01). Moreover, OI patients with <jats:italic>COL1A1<\/jats:italic> mutation tended to have greater main pulmonary artery, larger diameters of left atrial and LVEDd, and lower LVEF than healthy controls. <jats:italic>COL1A1<\/jats:italic> mutation was correlated to dilated MPA (\u03b2 = 1.557, <jats:italic>P<\/jats:italic> &amp;lt; 0.01), LAD (\u03b2\u00a0= 3.915, <jats:italic>P<\/jats:italic> &amp;lt; 0.001), and LVEDd (\u03b2 = 2.714, <jats:italic>P<\/jats:italic> &amp;lt; 0.01), and decreased LVEF (\u03b2\u00a0=\u00a0-3.249, <jats:italic>P<\/jats:italic> &amp;lt; 0.01).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Cardiovascular 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 <jats:italic>COL1A1<\/jats:italic> mutation and defects of type I collagen, which expanded our understandings of the cardiac phenotypes of OI children.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2022.1004946","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T14:29:21Z","timestamp":1666276161000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis 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