Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Rhabdomyoma

  • Karen FritchieEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_5461-1

Definition

Rhabdomyomas are benign mesenchymal neoplasms exhibiting skeletal muscle differentiation and can be subdivided into cardiac and extracardiac (adult, fetal, and genital) subtypes.

Clinical Features

  • Incidence

    Even though cardiac rhabdomyoma is the most common cardiac tumor identified in infants and children, it is rare. Among extracardiac rhabdomyosarcomas, the adult type is the most frequently encountered.

  • Age

    Cardiac rhabdomyomas present almost exclusively in infants and young children. Adult and genital rhabdomyomas typically affect older adults with a median age of 50–60 years, while fetal rhabdomyomas usually present as congenital masses or in early childhood (Kapadia et al. 1993a, b).

  • Sex

    Rhabdomyomas are more common in males than females except for the genital subtype which most often affects females.

  • Site

    Cardiac rhabdomyomas generally present as one or multiple intramural nodules within the ventricles, but lesions may arise in the interventricular septum or atria...

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References

  1. Burke, A. P., & Virmani, R. (1991). Cardiac rhabdomyoma: A clinicopathologic study. Modern Pathology, 4(1), 70–74.PubMedGoogle Scholar
  2. Fesslova, V., Villa, L., Rizzuti, T., Mastrangelo, M., & Mosca, F. (2004). Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally. Prenatal Diagnosis, 24(4), 241–248.  https://doi.org/10.1002/pd.825.CrossRefPubMedGoogle Scholar
  3. Hettmer, S., Teot, L. A., van Hummelen, P., MacConaill, L., Bronson, R. T., Dall’Osso, C., et al. (2013). Mutations in Hedgehog pathway genes in fetal rhabdomyomas. The Journal of Pathology, 231(1), 44–52.  https://doi.org/10.1002/path.4229.CrossRefPubMedGoogle Scholar
  4. Kapadia, S. B., Meis, J. M., Frisman, D. M., Ellis, G. L., & Heffner, D. K. (1993a). Fetal rhabdomyoma of the head and neck: A clinicopathologic and immunophenotypic study of 24 cases. Human Pathology, 24(7), 754–765.CrossRefGoogle Scholar
  5. Kapadia, S. B., Meis, J. M., Frisman, D. M., Ellis, G. L., Heffner, D. K., & Hyams, V. J. (1993b). Adult rhabdomyoma of the head and neck: A clinicopathologic and immunophenotypic study. Human Pathology, 24(6), 608–617.CrossRefGoogle Scholar
  6. Tiberio, D., Franz, D. N., & Phillips, J. R. (2011). Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics, 127(5), e1335–e1337.  https://doi.org/10.1542/peds.2010-2910.CrossRefPubMedGoogle Scholar
  7. Yinon, Y., Chitayat, D., Blaser, S., Seed, M., Amsalem, H., Yoo, S. J., & Jaeggi, E. T. (2010). Fetal cardiac tumors: A single-center experience of 40 cases. Prenatal Diagnosis, 30(10), 941–949.  https://doi.org/10.1002/pd.2590.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Mayo ClinicRochesterUSA