{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T11:04:10Z","timestamp":1753355050659,"version":"3.40.3"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T00:00:00Z","timestamp":1740355200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S1047951125000551_as1\"><jats:title>Purpose:<\/jats:title><jats:p>Desbuquois dysplasia type 1 is a rare autosomal recessive chondrodysplasia characterised by distinct skeletal abnormalities and multisystem involvement, including pulmonary, renal, and ocular abnormalities, has also been reported. Cardiac complications, although infrequently discussed in the literature, include aortopathy and atrioventricular valve prolapse, potentially due to defective proteoglycan production.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951125000551_as2\"><jats:title>Case Report:<\/jats:title><jats:p>This case report details a 7-year-old male diagnosed with Desbuquois dysplasia type 1 and a coronary-cameral fistula, both of which are exceedingly rare conditions. Genetic analysis revealed a previously reported homozygous pathogenic variant in the calcium-activated nucleotidase 1 gene, ENST00000c.898C&gt;T; p.Arg300Cys. Echocardiographic findings indicated significant cardiac enlargement, mitral valve prolapse, coronary-cameral fistula, pulmonary hypertension, advanced aortic root enlargement and aneurysmatic ascending aorta, and atrial septal defect, necessitating careful clinical management.<\/jats:p><\/jats:sec><jats:sec id=\"S1047951125000551_as3\"><jats:title>Conclusion:<\/jats:title><jats:p>This case underscores the complexity of Desbuquois dysplasia and its associated cardiac anomalies, highlighting the need for further research into the systemic implications of this disorder. To the best of our knowledge, this case has importance as it is the first of its kind in the literature.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s1047951125000551","type":"journal-article","created":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T08:53:01Z","timestamp":1740387181000},"page":"652-654","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":1,"title":["Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula"],"prefix":"10.1017","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4316-2002","authenticated-orcid":false,"given":"Musa","family":"\u00d6zt\u00fcrk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9406-9946","authenticated-orcid":false,"given":"Merve","family":"Tanr\u0131sever T\u00fcrk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin \u00d6zlem","family":"\u015eim\u015fek Kiper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5136-3977","authenticated-orcid":false,"given":"Hayrettin Hakan","family":"Aykan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2025,2,24]]},"reference":[{"key":"S1047951125000551_ref1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026714"},{"key":"S1047951125000551_ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20441"},{"key":"S1047951125000551_ref9","doi-asserted-by":"publisher","DOI":"10.1111\/echo.13565"},{"key":"S1047951125000551_ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ccd.1810350207"},{"key":"S1047951125000551_ref10","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000001265"},{"key":"S1047951125000551_ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106700"},{"key":"S1047951125000551_ref3","doi-asserted-by":"publisher","DOI":"10.1111\/febs.14984"},{"key":"S1047951125000551_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.021"},{"key":"S1047951125000551_ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000358"},{"key":"S1047951125000551_ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ccd.1810210110"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951125000551","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T12:05:16Z","timestamp":1743509116000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951125000551\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,24]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["S1047951125000551"],"URL":"https:\/\/doi.org\/10.1017\/s1047951125000551","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2025,2,24]]},"assertion":[{"value":"\u00a9 The Author(s), 2025. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}