Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex Diagnóstico y manejo fetal y posnatal de los rabdomiomas cardiacos y su asociación con el complejo de esclerosis tuberosa


Cirugia Cardiovascular, vol.30, no.5, pp.294-299, 2023 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 5
  • Publication Date: 2023
  • Doi Number: 10.1016/j.circv.2023.02.003
  • Journal Name: Cirugia Cardiovascular
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, EMBASE, Directory of Open Access Journals
  • Page Numbers: pp.294-299
  • Keywords: Cardiac rhabdomyoma, Everolimus, Tuberous sclerosis complex
  • Eskisehir Osmangazi University Affiliated: Yes


Aim: Cardiac rhabdomyomas are the most frequently seen pediatric cardiac tumors and are predominantly associated with tuberous sclerosis complex. These tumors often shrink and disappear spontaneously. This study evaluated the clinical and echocardiographic data of patients followed up in our Pediatric Cardiology Clinic for cardiac rhabdomyoma. Methods: This study included patients with cardiac rhabdomyoma detected by echocardiography between 2008 and 2021. Data regarding the patients’ age at diagnosis, symptoms, physical examination findings, electrocardiography, 24-h Holter recordings, echocardiography, and follow-up data were obtained from the hospital records. Results: The age of the patients at the time of diagnosis ranged from 21-weeks gestational age to postnatal 10-months. A total of 49 tumors were detected in 10 patients. In all but 2 patients, the tumor was asymptomatic and the hemodynamic changes were not significant. One patient required surgery due to significant left ventricular outflow tract obstruction. Everolimus treatment was administered to 1 patient with right ventricular outflow tract obstruction. Five of the patients were diagnosed with tuberous sclerosis complex during the follow-ups. Except 1 patient who died post-surgery, the others demonstrated substantial regression of the tumors during the ongoing follow-ups. Conclusion: Although it is a rare tumor, cardiac rhabdomyoma may lead to life-threatening symptoms. They are typically asymptomatic and usually resolve spontaneously. Novel medical treatments, such as everolimus, are promising as an alternative to surgery in patients with hemodynamic deterioration.