{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:37:28Z","timestamp":1780353448390,"version":"3.54.1"},"reference-count":17,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,1,7]]},"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong genetic association to tuberous sclerosis complex. Although most of the patients remain asymptomatic, a small proportion present with cardiac complications in the early neonatal period. Timely initiation of treatment can potentially reduce disease morbidity, and mammalian target of rapamycin (M-TOR) inhibitors play an effective role in promoting regression of these tumours. A healthy term newborn was diagnosed with a giant congenital cardiac rhabdomyoma at birth. He developed clinical signs of compromised cardiac function and progressive myocardial ischaemia, with echocardiography showing significant dyskinesia. He was treated with M-TOR inhibitors and clinical response was monitored via serial echocardiography. Remarkable regression of the tumour was visibly demonstrated within 4 months of sirolimus treatment. The infant continues to be reviewed by a multidisciplinary team of physicians and monitored for features of tuberous sclerosis complex.<\/jats:p>","DOI":"10.1136\/bcr-2021-244915","type":"journal-article","created":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T03:58:22Z","timestamp":1666583902000},"page":"e244915","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Neonatal rhabdomyoma with cardiac dysfunction: favourable response to sirolimus"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6596-7920","authenticated-orcid":false,"given":"Menghao","family":"Duan","sequence":"first","affiliation":[{"name":"Paediatric Medicine, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sreekanthan","family":"Sundararaghavan","sequence":"additional","affiliation":[{"name":"Paediatric Cardiology, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai Ling","family":"Koh","sequence":"additional","affiliation":[{"name":"Paediatric Genetics, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shui Yen","family":"Soh","sequence":"additional","affiliation":[{"name":"Paediatric Haematology\/Oncology, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,3,24]]},"reference":[{"key":"2025082700440068000_15.3.e244915.1","doi-asserted-by":"publisher","DOI":"10.1007\/s002460010070"},{"key":"2025082700440068000_15.3.e244915.2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2261-14-66"},{"key":"2025082700440068000_15.3.e244915.3","doi-asserted-by":"publisher","DOI":"10.1007\/s002460010071"},{"key":"2025082700440068000_15.3.e244915.4","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.114.000864."},{"key":"2025082700440068000_15.3.e244915.5","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5264"},{"key":"2025082700440068000_15.3.e244915.6","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0504"},{"key":"2025082700440068000_15.3.e244915.7","doi-asserted-by":"publisher","DOI":"10.1016\/S1010-7940(01)00951-4"},{"key":"2025082700440068000_15.3.e244915.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2004.10.020"},{"key":"2025082700440068000_15.3.e244915.9","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/uog.19108","article-title":"Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases","volume":"54","author":"Chen","year":"2019","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025082700440068000_15.3.e244915.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.1.28"},{"key":"2025082700440068000_15.3.e244915.11","article-title":"Tuberous sclerosis complex: genetic basis and management strategies","volume":"2","author":"Tsai","year":"2012","journal-title":"Advances Genomics Genetics"},{"key":"2025082700440068000_15.3.e244915.12","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi039"},{"key":"2025082700440068000_15.3.e244915.13","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-019-1077-6","article-title":"Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2\u2009years of age - 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