{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T11:51:30Z","timestamp":1775044290607,"version":"3.50.1"},"reference-count":20,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2014,11,13]]},"abstract":"<jats:p>Rhabdomyoma (RHM) is a benign cardiac tumour usually associated with tuberous sclerosis complex (TSC). Most RHMs are asymptomatic and regress spontaneously during the first years of life. Haemodynamically significant RHMs are classically treated with surgical excision. We present a case of a premature infant, born to a mother having TSC, with a prenatal diagnosis of pulmonary valve atresia and a large ventricular septal defect. Multiple cardiac RHMs were also present, including a large tumour affecting the right ventricular filling. Owing to the prematurity and low birth weight, the infant was inoperable. In this report, we describe our approach to pharmacologically reduce the RHM size using oral everolimus in preparation for a two-ventricle surgical repair of the structural cardiac defect. We also specifically describe the dose of everolimus that was used in this case to achieve therapeutic serum levels, which was seven times lower than the conventional dose applicable for older infants.<\/jats:p>","DOI":"10.1136\/bcr-2014-205138","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T16:31:13Z","timestamp":1417019473000},"page":"bcr2014205138","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":22,"title":["Oral everolimus treatment in a preterm infant with multifocal inoperable cardiac rhabdomyoma associated with tuberous sclerosis complex and a structural heart defect"],"prefix":"10.1136","volume":"2014","author":[{"given":"Ibrahim","family":"Mohamed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Ethier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Goyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Major","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagib","family":"Dahdah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2014,11,26]]},"reference":[{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2010.04727.x"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.2","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20080281"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.3","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1093\/jnen\/63.12.1236","article-title":"Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation","volume":"63","author":"Chan","year":"2004","journal-title":"J Neuropathol Exp Neurol"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61134-9"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.5","first-page":"211","article-title":"Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex","volume":"7","author":"Franz","year":"2013","journal-title":"Biologics"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61767-X"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1001671"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-005-0876-9"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.9","doi-asserted-by":"publisher","DOI":"10.1067\/S0022-3476(03)00494-3"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.10","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(95)80031-B"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.11","first-page":"39","article-title":"Prenatal diagnosis of giant cardiac rhabdomyoma with fetal hydrops in tuberous sclerosis","volume":"7","author":"Schlaegel","year":"2013","journal-title":"J Prenat Med"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.12","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.7863\/jum.2012.31.11.1821","article-title":"Fetal cardiac rhabdomyoma with hydrops fetalis: report of 2 cases and literature review","volume":"31","author":"Pruksanusak","year":"2012","journal-title":"J Ultrasound Med"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.13","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2590"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.14","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5264"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.15","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20784"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.16","doi-asserted-by":"publisher","DOI":"10.1038\/nm1788"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.17","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1528-1167.2009.02341.x","article-title":"Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: from tuberous sclerosis to common acquired epilepsies","volume":"51","author":"Wong","year":"2010","journal-title":"Epilepsia"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.18","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-3476"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.19","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-2910"},{"key":"2025042707022967000_2014.nov26_1.bcr2014205138.20","unstructured":"Novartis. Afinitor\u00ae (everolimus) tablets for oral administration: Canada prescribing information, Novartis Pharmaceuticals Corporation. http:\/\/www.novartis.ca\/asknovartispharma\/download.htm?res=afinitor_scrip_e.pdf&resTitleId=705 (Cited on 20 February 2014 2013)."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2014-205138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:02:41Z","timestamp":1745762561000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2014-205138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,26]]},"references-count":20,"alternative-id":["10.1136\/bcr-2014-205138"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2014-205138","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,26]]}}}