{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T00:33:50Z","timestamp":1788568430926,"version":"build-2803163510"},"reference-count":23,"publisher":"Cambridge University Press (CUP)","issue":"10","license":[{"start":{"date-parts":[[2020,8,14]],"date-time":"2020-08-14T00:00:00Z","timestamp":1597363200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951120002474_as1\"><jats:title>Background:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951120002474_as2\"><jats:title>Methods:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951120002474_as3\"><jats:title>Results:<\/jats:title><jats:p>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 &lt; 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 &lt; 0.001) were significantly larger than in the control group. Patients with moderate\/severe osteogenesis imperfecta had similar results, with aortic diameter (p &lt; 0.001), left atrium diameter (p &lt; 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 &lt; 0.001).<\/jats:p><\/jats:sec><jats:sec id=\"S1047951120002474_as4\"><jats:title>Conclusion:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951120002474","type":"journal-article","created":{"date-parts":[[2020,8,14]],"date-time":"2020-08-14T14:21:56Z","timestamp":1597414916000},"page":"1490-1495","source":"Crossref","is-referenced-by-count":12,"title":["Echocardiographic study in children with osteogenesis imperfecta"],"prefix":"10.1017","volume":"30","author":[{"given":"Bruna S.","family":"Pinheiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patr\u00edcia M.","family":"Barrios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliane T.","family":"Souza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8401-6821","authenticated-orcid":false,"given":"T\u00eamis M.","family":"F\u00e9lix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2020,8,14]]},"reference":[{"key":"S1047951120002474_ref13","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders : 2015 revision","volume":"167A","author":"Bonafe","year":"2015","journal-title":"Am J Med Genet A"},{"key":"S1047951120002474_ref4","doi-asserted-by":"crossref","first-page":"3535","DOI":"10.1093\/hmg\/dds183","article-title":"Cardiopulmonary dysfunction in the 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Imaging","volume":"28","author":"Lang","year":"2015","journal-title":"J Am Soc Echocardiogr"},{"key":"S1047951120002474_ref7","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1136\/heartjnl-2016-310099","article-title":"Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity","volume":"103","author":"Rush","year":"2017","journal-title":"Heart"},{"key":"S1047951120002474_ref16","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1097\/01.hco.0000221580.63996.93","article-title":"Echocardiographic measures of diastolic function in pediatric heart disease","volume":"21","author":"Frommelt","year":"2006","journal-title":"Curr Opin Cardiol"},{"key":"S1047951120002474_ref3","doi-asserted-by":"crossref","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat Rev Dis 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imperfecta","volume":"31","author":"Radunovic","year":"2015","journal-title":"Can J Cardiol"},{"key":"S1047951120002474_ref2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000332228","article-title":"Osteogenesis imperfecta: a review with clinical examples","volume":"2","author":"Van Dijk","year":"2011","journal-title":"Mol Syndromol"},{"key":"S1047951120002474_ref9","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.ijcard.2007.10.051","article-title":"Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease : casuality or causality ?","volume":"131","author":"Migliaccio","year":"2009","journal-title":"Int J Cardiol"},{"key":"S1047951120002474_ref17","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.hlc.2013.05.640","article-title":"Valvular and aortic diseases in osteogenesis imperfecta","volume":"22","author":"Lamanna","year":"2013","journal-title":"Hear Lung 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