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[Rhabdomyoma of the heart: three case report (author's transl)]
Abstract:
Authors described three infants under three months of age with cardiac rhabdomyoma observed during a period of eight years. There was no clinical or pathological evidence of tuberous sclerosis. During this period of time they found two cases of tuberous sclerosis, without associated rhabdomyoma, among 2,457 necropsies. On the other hand none of 11 children with tuberous sclerosis under observation in this centre had any clinical evidence of rhabdomyoma. Presenting symptoms of the three cases were cyanosis, heart failure, heart murmurs and alterations of heart rhythm. Diagnosis was suspected on the bases of eco and angiocardiographic studies and was finally confirmed by necropsy. Surgical exeresis of the tumor was attempted in one of the cases, but was not possible because it was too large.
Insights
Cardiac rhabdomyoma in infants is rare and often presents with heart issues. This study found no link to tuberous sclerosis in these young patients, despite its presence in other cases.
Area of Science:
- Pediatric Cardiology
- Cardiac Pathology
- Oncology
Background:
- Cardiac rhabdomyoma is a rare tumor in infants.
- Tuberous sclerosis is a genetic disorder associated with rhabdomyomas, but not always.
- Early diagnosis and management are crucial for affected infants.
Observation:
- Three infants under three months of age presented with cardiac rhabdomyoma.
- No clinical or pathological evidence of tuberous sclerosis was found in these infants.
- Symptoms included cyanosis, heart failure, murmurs, and arrhythmias.
Findings:
- Diagnosis was suspected via echocardiography and angiocardiography, confirmed by necropsy.
- Two cases of tuberous sclerosis without rhabdomyoma were found in 2,457 necropsies.
- None of 11 children with tuberous sclerosis showed clinical signs of rhabdomyoma.
Implications:
- Cardiac rhabdomyoma in infants may occur independently of tuberous sclerosis.
- Further research is needed to understand the specific etiology and management of infantile cardiac rhabdomyoma.
- Timely diagnosis through advanced imaging is vital for potential interventions.