[A cardiac rhabdomyome evoking the antenatal diagnosis of a Bourneville's tuberous sclerosis]

Abstract

Rare hereditary affection, the Bourneville's tuberous sclerosis (BTS) is an autosomal dominant inherited phakomatosis. Rhabdomyomes are the most frequent cardiac tumors in children and infants, they are one of the most premature modes of revelation of the STB. They sometimes allow to envisage the diagnosis in antenatal period at the same time as the genetic and neurological explorations. We report the diagnosis of a fetal BTS evoked by the antenatal discovery of a cardiac rhabdomyome. The antenatal cerebral explorations, realized by magnetic resonance imagery (MRI), put evidence cerebral localisations confirming the diagnosis.

Keywords: Antenatal diagnosis; Bourneville's tuberous sclerosis; Cardiac rhabdomyome; Diagnostic anténatal; Echocardiography; Imagerie par résonance magnétique; Magnetic resonance imagery; Rhabdomyome cardiaque; Sclérose tubéreuse de Bourneville; Échocardiographie.