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

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 Boumeville's disease is difficult. The presence of cardiac hamartomas at birth is a reliable mean to make the diagnosis. (C) 2003 Editions scientifiques et medicales Elsevier SAS. All rights reserved.