Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review

J Appl Genet. 2020 Dec;61(4):559-565. doi: 10.1007/s13353-020-00582-4. Epub 2020 Sep 22.

Abstract

Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumors in clinical practice.

Keywords: Cardiac tumor; Exome sequencing; Familial; Fibroma; Gorlin syndrome.

MeSH terms

  • Adult
  • Basal Cell Nevus Syndrome / genetics*
  • Basal Cell Nevus Syndrome / pathology
  • Child
  • Female
  • Fibroma / genetics*
  • Fibroma / pathology
  • Heart Neoplasms / genetics*
  • Heart Neoplasms / pathology
  • Humans
  • Male
  • Patched-1 Receptor / genetics*
  • Whole Exome Sequencing

Substances

  • PTCH1 protein, human
  • Patched-1 Receptor