[Cardiac hamartomas in Bourneville's tuberous sclerosis. Perinatal echographic diagnosis and spontaneous evolution]

Arch Pediatr. 2003 Feb;10(2):126-9. doi: 10.1016/s0929-693x(03)00308-7.
[Article in French]

Abstract

Cardiac hamartomas are frequently the earliest revelation of Bourneville's tuberous sclerosis. They sometimes allow to consider the diagnosis during the antenatal period, and to plan therefore genetic and CNS investigations. After the neonatal period, the evolution of hamartomas is frequently favourable, characterised with at least partial involution.

Observation: Antenatal equivocal cardiac echographic images did not allow the diagnosis in a fetus whose father had Bourneville's disease. Other antenatal investigations (genetics, central nervous system MRI) were not helpful. The diagnosis was carried out at birth as cardiac ultrasound reliably showed two cardiac hamartomas.

Conclusion: Even when suspected, the antenatal diagnosis of Bourneville's disease is difficult. The presence of cardiac hamartomas at birth is a reliable mean to make the diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Echocardiography*
  • Hamartoma / diagnostic imaging*
  • Hamartoma / pathology
  • Heart Diseases / diagnostic imaging*
  • Heart Diseases / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Prognosis
  • Tuberous Sclerosis / diagnostic imaging*
  • Tuberous Sclerosis / pathology