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[Cardiac hamartomas in Bourneville's tuberous sclerosis. Perinatal echographic diagnosis and spontaneous evolution]
T Perez1, L Christiaens, D Bonneau
1Service de médecine néonatale, hôpital Gatien-de-Clocheville, 49, boulevard Béranger, 37044 Tours cedex, France. thperez@club-internet.fr
Insights
Cardiac hamartomas are often the first sign of Bourneville's tuberous sclerosis. Diagnosis at birth via cardiac ultrasound is reliable when antenatal screening is inconclusive.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Bourneville's disease, also known as tuberous sclerosis complex (TSC), can manifest with cardiac hamartomas.
- Cardiac hamartomas may be the earliest indicator of TSC, potentially allowing for antenatal diagnosis and subsequent genetic and central nervous system (CNS) investigations.
- Postnatally, cardiac hamartomas often show favorable involution, with at least partial resolution.
Observation:
- Antenatal cardiac echography provided equivocal findings in a fetus whose father had Bourneville's disease.
- Antenatal genetic and central nervous system (CNS) Magnetic Resonance Imaging (MRI) investigations were uninformative.
- Diagnosis was confirmed at birth through cardiac ultrasound, which clearly identified two cardiac hamartomas.
Findings:
- Antenatal diagnosis of Bourneville's disease (TSC) can be challenging, even with suspected cases.
- Cardiac hamartomas identified at birth via echocardiography serve as a reliable diagnostic marker for Bourneville's disease (TSC).
Implications:
- Early diagnosis of Bourneville's disease (TSC) is crucial for timely intervention and management.
- The presence of cardiac hamartomas in newborns warrants thorough investigation for Bourneville's disease (TSC).
- Improved diagnostic strategies for antenatal detection of TSC are needed.
Unlabelled:
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.