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Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value
H C Smith1, G H Watson, R G Patel
1Department of Cardiology, Royal Manchester Children's Hospital.
Insights
Cardiac rhabdomyomata are common in children with tuberous sclerosis, with prevalence decreasing in adulthood. Echocardiography is a key diagnostic tool for infants with tuberous sclerosis.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Tuberous sclerosis is a genetic disorder that can cause tumors to grow in various organs, including the heart.
- Cardiac rhabdomyomata are the most common cardiac tumors in infants and children.
- The natural history and prevalence of cardiac rhabdomyomata in tuberous sclerosis patients across different age groups require further elucidation.
Purpose of the Study:
- To determine the prevalence and age-related course of cardiac rhabdomyomata in individuals with tuberous sclerosis.
- To assess the diagnostic utility of echocardiography for detecting cardiac rhabdomyomata in early infancy.
Main Methods:
- Echocardiography was performed on 60 patients diagnosed with tuberous sclerosis.
- Patients were stratified by age groups (children and adults).
- Tumor size and prevalence were analyzed across different age demographics.
Main Results:
- Cardiac rhabdomyomata were detected in 58% of children (25/43) but only 18% of adults (3/17).
- Tumor size remained relatively stable throughout childhood.
- Evidence suggests tumor regression in early infancy and adolescence, with higher prevalence in young infants than observed.
Conclusions:
- Cardiac rhabdomyomata are highly prevalent in pediatric tuberous sclerosis patients, with a significant decline in adulthood.
- Echocardiography is a crucial, non-invasive diagnostic tool for early detection of cardiac rhabdomyomata in infants with tuberous sclerosis, especially when other signs are absent.
- The findings support the potential for tumor regression, particularly in early infancy and adolescence.
Abstract:
Echocardiography was performed in 60 people with tuberous sclerosis to ascertain the prevalence and course of cardiac rhabdomyomata at different ages. Twenty five (58%) of 43 children had tumours, but only three (18%) of 17 adults. The tumours tended to remain the same size through childhood. Only three infants were included but evidence from this and some published case reports suggest that the tumours tend to regress in early infancy and again in adolescence. The prevalence of tumours in young infants with tuberous sclerosis is likely to be considerably above 50%. As other signs of tuberous sclerosis are usually absent at this age echocardiography may afford the most useful diagnostic test in early infancy.