{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T17:52:34Z","timestamp":1780336354483,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tuberous sclerosis complex is associated with the occurrence of cardiac rhabdomyomas that may result in life\u2010threatening arrhythmia unresponsive to standard antiarrhythmic therapy. We report the case of an infant with multiple cardiac rhabdomyomas who developed severe refractory supraventricular tachycardia (SVT) that was successfully treated with everolimus. Pharmacological mTOR inhibition rapidly improved arrhythmia within few weeks after treatment initiation and correlated with a reduction in tumor size. Intermediate attempts to discontinue everolimus resulted in rhabdomyoma size rebound and recurrence of arrhythmic episodes, which resolved on resumption of therapy. While everolimus treatment led to successful control of arrhythmia in the first years of life, episodes of SVT reoccurred at the age of 6\u2009years. Electrophysiologic testing confirmed an accessory pathway that was successfully ablated, resulting in freedom of arrhythmic events. In summary we present an in\u2010depth evaluation of the long\u2010term use of everolimus in a child with TSC\u2010associated SVT, including the correlation between drug use and arrhythmia outcome. This case report provides important information on the safety and efficacy of an mTOR inhibitor for the treatment of a potentially life\u2010threatening cardiac disease manifestation in TSC for which the optimal treatment strategy is still not well established.<\/jats:p>","DOI":"10.1002\/ajmg.a.63508","type":"journal-article","created":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T06:28:46Z","timestamp":1703226526000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long\u2010term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3389-6582","authenticated-orcid":false,"given":"Christoph","family":"Hofmann","sequence":"first","affiliation":[{"name":"Department of Internal Medicine III (Cardiology, Angiology, and Pneumology) Heidelberg University Hospital  Heidelberg Germany"},{"name":"DZHK (German Center for Cardiovascular Research) Partner Site Heidelberg\/Mannheim  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Syrbe","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine Heidelberg University Hospital  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Hebe","sequence":"additional","affiliation":[{"name":"Center for Electrophysiology Bremen  Bremen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jannis","family":"Kreft","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III (Cardiology, Angiology, and Pneumology) Heidelberg University Hospital  Heidelberg Germany"},{"name":"DZHK (German Center for Cardiovascular Research) Partner Site Heidelberg\/Mannheim  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Stark","sequence":"additional","affiliation":[{"name":"Hopp Children's Cancer Center Heidelberg (KiTZ)  Heidelberg Germany"},{"name":"National Center for Tumor Diseases (NCT) NCT Heidelberg, Partnership Between German Cancer Research Center (DKFZ) and Heidelberg University Hospital  Germany"},{"name":"Department of Pediatric Oncology, Hematology and Immunology Heidelberg University Hospital  Heidelberg Germany"},{"name":"Clinical Cooperation Unit Pediatric Oncology German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK)  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Till","family":"Milde","sequence":"additional","affiliation":[{"name":"Hopp Children's Cancer Center Heidelberg (KiTZ)  Heidelberg Germany"},{"name":"National Center for Tumor Diseases (NCT) NCT Heidelberg, Partnership Between German Cancer Research Center (DKFZ) and Heidelberg University Hospital  Germany"},{"name":"Department of Pediatric Oncology, Hematology and Immunology Heidelberg University Hospital  Heidelberg Germany"},{"name":"Clinical Cooperation Unit Pediatric Oncology German Cancer Research Center (DKFZ) and German Consortium for Translational Cancer Research (DKTK)  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"V\u00f6lkers","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III (Cardiology, Angiology, and Pneumology) Heidelberg University Hospital  Heidelberg Germany"},{"name":"DZHK (German Center for Cardiovascular Research) Partner Site Heidelberg\/Mannheim  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg Friedrich","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine Heidelberg University 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