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Giant cardiac tumours in the newborn: an unusual image

J Kwiatkowska, S Ciemny1, D Kozłowski

  • 1Department of Pediatric Cardiology and Congenital Heart Defects, Medical University of Gdansk, Poland, Gdańsk, Poland. s_e.b_a@gumed.edu.pl.

Folia Morphologica
|January 4, 2018
PubMed

Insights

Pediatric heart rhabdomyomas, often linked to tuberous sclerosis complex (TSC), are rare tumors. This case highlights a rare infant presentation of giant rhabdomyomas in TSC.

Area of Science:

  • Pediatric Cardiology
  • Oncology
  • Genetics

Background:

  • Primary heart tumors in children are rare, accounting for 0.01%-0.04% of cases.
  • Rhabdomyomas constitute about half of these primary heart tumors, with a high association (75-80%) with tuberous sclerosis complex (TSC).
  • Tuberous sclerosis complex (TSC) is a genetic disorder characterized by hamartomas in multiple organs, including the brain, kidneys, skin, and heart.

Observation:

  • Over two-thirds of newborns diagnosed with TSC present with cardiac rhabdomyomas.
  • These cardiac tumors can range from asymptomatic to life-threatening, causing heart failure and arrhythmias.
  • The case report details an infant experiencing giant rhabdomyoma tumors within the context of TSC.

Findings:

  • The study focuses on a rare case of giant rhabdomyoma tumors in an infant with TSC.
  • It underscores the significant cardiac manifestations that can arise from TSC in neonates.
  • The findings emphasize the critical need for early diagnosis and management of cardiac rhabdomyomas in TSC patients.

Implications:

  • Early detection of cardiac rhabdomyomas in infants with TSC is crucial for timely intervention.
  • Understanding the link between TSC and cardiac rhabdomyomas can improve patient outcomes.
  • This case report contributes to the literature on rare pediatric cardiac tumors and genetic disorders.

Keywords:
cardiac tumourgiant heart tumoursprimary heart tumours in childrenrhabdomyoma of hearttuberous sclerosis complex

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