Rhabdomyoma association with atrioventricular septal defect in an infant: a rare coincidence

Ilker Mercan1, Muhammet Akyüz1, Onur Isık1

  • 1Department of Pediatric Heart Surgery, Izmir University Of Health Sciences Tepecik Training And Research Hospital, Sanayi Caddesi No:7 Bornova, İzmir, Turkey.

Insights

Cardiac rhabdomyoma, a common childhood heart tumor often linked to tuberous sclerosis complex, typically regresses spontaneously. This case study highlights successful treatment of an asymptomatic rhabdomyoma with everolimus, avoiding surgical intervention.

Area of Science:

  • Pediatric Cardiology
  • Oncology
  • Genetics

Background:

  • Cardiac rhabdomyoma is the most frequent primary cardiac tumor in children.
  • It is frequently associated with tuberous sclerosis complex (TSC).
  • Spontaneous regression is common, but surgical intervention is necessary for obstructive symptoms.

Observation:

  • This study presents a case of an infant with atrioventricular septal defect and patent ductus arteriosus.
  • The infant also had an accompanying asymptomatic cardiac rhabdomyoma.
  • The tumor did not cause significant obstruction or symptoms.

Findings:

  • The asymptomatic cardiac rhabdomyoma was treated with everolimus.
  • This approach was chosen in line with current literature, avoiding surgical excision.
  • The treatment aimed to manage the rhabdomyoma without invasive procedures.

Implications:

  • This case suggests everolimus as a viable non-surgical option for asymptomatic cardiac rhabdomyomas.
  • It underscores the importance of considering medical management alongside surgical correction of congenital heart defects.
  • Further research is needed to clarify the relationship between rhabdomyomas and other congenital heart malformations.

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