Primary cardiac tumors associated with genetic syndromes: a comprehensive review

Pediatr Radiol. 2018 Feb;48(2):156-164. doi: 10.1007/s00247-017-4027-2. Epub 2017 Dec 6.


Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management.

Keywords: Cardiac tumors; Children; Echocardiography; Genetic syndromes; Heart; Magnetic resonance imaging.

Publication types

  • Review

MeSH terms

  • Basal Cell Nevus Syndrome / genetics
  • Carney Complex / genetics
  • Child
  • Disease Progression
  • Genetic Predisposition to Disease*
  • Genotype
  • Heart Neoplasms / diagnostic imaging*
  • Heart Neoplasms / genetics*
  • Humans
  • Myxoma / genetics
  • Paraganglioma / genetics
  • Rhabdomyoma / genetics
  • Syndrome
  • Tuberous Sclerosis / genetics