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Cardiac rhabdomyoma in familial tuberous sclerosis

Amit Kumar Chaurasia1, S Harikrishnan, S Bijulal

  • 1Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, India.

Journal of Cardiovascular and Thoracic Research
|November 20, 2013
PubMed

Insights

Cardiac rhabdomyomas, often linked to tuberous sclerosis complex, are rare in infants. This case highlights a child with a right ventricular rhabdomyoma and tuberous sclerosis, where surgery was unnecessary due to the absence of heart failure symptoms.

Area of Science:

  • Pediatric Cardiology
  • Oncology
  • Genetics

Background:

  • Cardiac rhabdomyomas are benign tumors of the heart, frequently diagnosed in infants.
  • Tuberous sclerosis complex (TSC) is a genetic disorder with a high association with cardiac rhabdomyomas.

Observation:

  • A 5-month-old infant presented with a cardiac tumor in the right ventricle.
  • Echocardiography confirmed features consistent with a rhabdomyoma.
  • The infant and her father exhibited cutaneous manifestations indicative of tuberous sclerosis.

Findings:

  • The presence of a cardiac rhabdomyoma was confirmed in an infant with clinical signs of tuberous sclerosis.
  • The diagnosis was supported by echocardiographic findings and family history.

Implications:

  • Surgical intervention for cardiac rhabdomyomas is often not required, particularly in asymptomatic cases.
  • Management should focus on monitoring for potential complications like congestive heart failure.
  • Early recognition of tuberous sclerosis markers can aid in diagnosis and management of associated cardiac conditions.

Keywords:
RhabdomyomaRight VentricleTuberous SclerosisTumor

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