{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T02:59:19Z","timestamp":1783047559031,"version":"3.54.6"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T00:00:00Z","timestamp":1362355200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Rhabdomyoma is the most common type of cardiac tumor in fetuses and is often associated with tuberous sclerosis complex (<jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>) with neurologic sequelae. The purpose of this study was to investigate the cardiac and neurodevelopmental outcomes of fetal rhabdomyoma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reviewed the clinical characteristics of 23 cases of cardiac rhabdomyoma  diagnosed prenatally by fetal echocardiography at the Asan Medical Center between January 1998 and December 2009. We also reviewed postnatal results of brain magnetic resonance imaging, echocardiography, renal ultrasound examination and molecular genetic analysis to confirm the presence of cardiac rhabdomyoma with or without <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 23 cases, outcome data were available for 17 (73.9%) and six cases (26.1%) were lost to follow\u2010up. The survival rate was 100.0% (17\/17). Among the 17 cases with outcome data, spontaneous tumor regression occurred in eight (47.1%), and no change in tumor size and number was observed in the remaining nine cases (52.9%). There was no evidence of long\u2010term cardiac dysfunction caused by persisting rhabdomyomas, regardless of tumor size. <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> was found in nine patients (52.9%), of whom five (55.6%) showed neurodevelopmental morbidity. We identified mutations in one of the <jats:styled-content style=\"fixed-case\">TSC1<\/jats:styled-content> or <jats:styled-content style=\"fixed-case\">TSC2<\/jats:styled-content> genes in four of nine <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> infants whose parents allowed us to perform molecular genetic analysis. Three of these (75.0%) were found to have neurologic impairment. Seven (77.8%) of nine <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> cases were non\u2010familial.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The overall outcome of isolated cardiac rhabdomyoma appears to be favorable. We suggest that systematic postnatal evaluation of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> be performed even in cases of cardiac rhabdomyoma without a family history of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>. Molecular characterization of <jats:styled-content style=\"fixed-case\">TSC1<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">TSC2<\/jats:styled-content> might be helpful in predicting short\u2010 and long\u2010term neurodevelopmental outcomes.Copyright \u00a9 2012 ISUOG. Published by John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.11227","type":"journal-article","created":{"date-parts":[[2012,7,13]],"date-time":"2012-07-13T08:40:10Z","timestamp":1342168810000},"page":"306-311","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex"],"prefix":"10.1002","volume":"41","author":[{"given":"K. 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