KaRhab: an international online registry for cardiac rhabdomyomas
Abstract Background Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shorta...
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BMC
2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03470-w |
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| author | Vera-Maria Herrmann Maria Arelin Caroline G. Bergner Julia Herrmann Paula Janz Henriette Kiep Annika Mueller Steffen Syrbe Robert Wagner Bardo Wannenmacher Nadine Wolf Michael Weidenbach Vincent Strehlow |
| author_facet | Vera-Maria Herrmann Maria Arelin Caroline G. Bergner Julia Herrmann Paula Janz Henriette Kiep Annika Mueller Steffen Syrbe Robert Wagner Bardo Wannenmacher Nadine Wolf Michael Weidenbach Vincent Strehlow |
| author_sort | Vera-Maria Herrmann |
| collection | DOAJ |
| description | Abstract Background Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shortage of large-scale reviews encompassing a substantial number of cases. Results In order to congregate existing and future information on cardiac RHM we established a web-based cardiac RHM online registry using an online survey tool. In addition we integrated previously published data from individual case reports and case series. The evaluation of this paper is intended to provide a brief overview of the cohort that we have been able to include so far. Our findings mainly confirm the previous knowledge on cardiac RHM. At the same time, our cohort shows a clear heterogeneity in the treatment methods with regard to rhabdomyomas requiring therapy and revealed a bias between literature data and our registry data with regard to symptoms and need for therapy. Conclusion In the view of the heterogeneity of treatment methods, a systematic overview of cardiac RHM is all the more important, especially as specific drug treatment options now exist. The registry should not just provide a comprehensive and informative overview of causes, time course, symptoms and therapeutic options of cardiac RHM but also facilitate information sharing among clinicians and researchers and serve as a basis for future clinical and pharmacological studies. |
| format | Article |
| id | doaj-art-e3da3e24f41f4013baa4a3d74c511b09 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-e3da3e24f41f4013baa4a3d74c511b092025-02-02T12:42:23ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-012011710.1186/s13023-024-03470-wKaRhab: an international online registry for cardiac rhabdomyomasVera-Maria Herrmann0Maria Arelin1Caroline G. Bergner2Julia Herrmann3Paula Janz4Henriette Kiep5Annika Mueller6Steffen Syrbe7Robert Wagner8Bardo Wannenmacher9Nadine Wolf10Michael Weidenbach11Vincent Strehlow12Institute of Human Genetics, Leipzig University Medical CenterDepartment of Neuropediatrics, University Hospital for Children and AdolescentsDepartment of Neurology, Leipzig University Medical CenterInstitute of Human Genetics, Leipzig University Medical CenterInstitute of Human Genetics, Leipzig University Medical CenterDepartment of Neuropediatrics, University Hospital for Children and AdolescentsInstitute of Human Genetics, Leipzig University Medical CenterDivision of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital HeidelbergMedical Office Dr. Robert WagnerDepartment of Pediatrics, University Hospital HalleDepartment of Neonatology, Leipzig University Medical CenterDepartment of Pediatric Cardiology, Heart Center Leipzig - University HospitalInstitute of Human Genetics, Leipzig University Medical CenterAbstract Background Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shortage of large-scale reviews encompassing a substantial number of cases. Results In order to congregate existing and future information on cardiac RHM we established a web-based cardiac RHM online registry using an online survey tool. In addition we integrated previously published data from individual case reports and case series. The evaluation of this paper is intended to provide a brief overview of the cohort that we have been able to include so far. Our findings mainly confirm the previous knowledge on cardiac RHM. At the same time, our cohort shows a clear heterogeneity in the treatment methods with regard to rhabdomyomas requiring therapy and revealed a bias between literature data and our registry data with regard to symptoms and need for therapy. Conclusion In the view of the heterogeneity of treatment methods, a systematic overview of cardiac RHM is all the more important, especially as specific drug treatment options now exist. The registry should not just provide a comprehensive and informative overview of causes, time course, symptoms and therapeutic options of cardiac RHM but also facilitate information sharing among clinicians and researchers and serve as a basis for future clinical and pharmacological studies.https://doi.org/10.1186/s13023-024-03470-wCardiac rhabdomyomaTuberous sclerosis complexmTOR inhibitorsPatient registry |
| spellingShingle | Vera-Maria Herrmann Maria Arelin Caroline G. Bergner Julia Herrmann Paula Janz Henriette Kiep Annika Mueller Steffen Syrbe Robert Wagner Bardo Wannenmacher Nadine Wolf Michael Weidenbach Vincent Strehlow KaRhab: an international online registry for cardiac rhabdomyomas Orphanet Journal of Rare Diseases Cardiac rhabdomyoma Tuberous sclerosis complex mTOR inhibitors Patient registry |
| title | KaRhab: an international online registry for cardiac rhabdomyomas |
| title_full | KaRhab: an international online registry for cardiac rhabdomyomas |
| title_fullStr | KaRhab: an international online registry for cardiac rhabdomyomas |
| title_full_unstemmed | KaRhab: an international online registry for cardiac rhabdomyomas |
| title_short | KaRhab: an international online registry for cardiac rhabdomyomas |
| title_sort | karhab an international online registry for cardiac rhabdomyomas |
| topic | Cardiac rhabdomyoma Tuberous sclerosis complex mTOR inhibitors Patient registry |
| url | https://doi.org/10.1186/s13023-024-03470-w |
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