Herrmann Vera-Maria, Arelin Maria, Bergner Caroline G, Herrmann Julia, Janz Paula, Kiep Henriette, Mueller Annika, Syrbe Steffen, Wagner Robert, Wannenmacher Bardo, Wolf Nadine, Weidenbach Michael, Strehlow Vincent
Institute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany.
Department of Neuropediatrics, University Hospital for Children and Adolescents, Leipzig, Germany.
Orphanet J Rare Dis. 2025 Jan 30;20(1):44. doi: 10.1186/s13023-024-03470-w.
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.
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.
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.
心脏横纹肌瘤（RHM）被认为是儿童中最常见的良性心脏肿瘤之一。然而，在临床实践中遇到心脏RHM的情况仍然很少见。临床信息主要以单病例报告或规模较小的研究形式存在，缺乏涵盖大量病例的大规模综述。
为了汇总现有的和未来关于心脏RHM的信息，我们使用在线调查工具建立了一个基于网络的心脏RHM在线登记处。此外，我们整合了先前发表的来自个别病例报告和病例系列的数据。本文的评估旨在简要概述我们目前能够纳入的队列。我们的研究结果主要证实了先前关于心脏RHM的知识。同时，我们的队列在需要治疗的横纹肌瘤的治疗方法上显示出明显的异质性，并且在症状和治疗需求方面揭示了文献数据与我们登记处数据之间的偏差。
鉴于治疗方法的异质性，对心脏RHM进行系统综述变得更加重要，特别是现在存在特定的药物治疗选择。该登记处不仅应全面、详细地概述心脏RHM的病因、病程、症状和治疗选择，还应促进临床医生和研究人员之间的信息共享，并为未来的临床和药理学研究提供基础。
