Related Experiment Videos
Tuberous sclerosis presenting with fetal and neonatal cardiac tumours
G Wallace1, H C Smith, G H Watson
1Royal Manchester Children's Hospital, Pendlebury.
Archives of Disease in Childhood
|April 1, 1990
Insights
Cardiac tumors in infants are often linked to tuberous sclerosis. Hypomelanotic macules, a key sign, may not appear until age two, impacting early diagnosis.
Area of Science:
- Pediatric Cardiology
- Developmental Pediatrics
- Medical Genetics
Background:
- Cardiac tumors are rare in infants.
- Tuberous sclerosis is a genetic disorder with varied manifestations.
- Early detection of tuberous sclerosis is crucial for management.
Observation:
- Five infants presented with cardiac tumors detected via ultrasonography during fetal or early postnatal stages.
- None of the infants exhibited hypomelanotic macules at birth.
Findings:
- All five infants were subsequently diagnosed with tuberous sclerosis.
- Tumor regression was observed in three infants.
- Only one infant required surgical intervention for the cardiac tumor.
- Hypomelanotic macules developed in all infants up to two years after birth.
Implications:
- Ultrasonography detection of cardiac tumors in neonates warrants investigation for tuberous sclerosis.
- The delayed appearance of hypomelanotic macules highlights the need for vigilant follow-up in diagnosing tuberous sclerosis.
- Non-invasive monitoring and potential spontaneous regression of cardiac tumors in tuberous sclerosis should be considered in treatment planning.
Abstract:
Cardiac tumours were identified on ultrasonography in fetal or early postnatal life in five infants. Tuberous sclerosis was subsequently diagnosed in all five. Only one infant required operation. Regression of the tumour occurred in three. No infant had hypomelanotic macules at birth, and they took up to two years to appear.