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Carney complex presenting with Raynaud's phenomenon and erythematous macules of the extremities

L J Mirkinson1, K Ratnayaka, C A Sable

  • 1Department of Rheumatology, George Washington University Medical Center, Children's National Medical Center, Washington, DC 20010, USA. mirkil@holycross-health.org

Pediatric Cardiology
|February 28, 2006
PubMed

Insights

Carney complex can manifest as digital vasculitis and Raynaud's phenomenon. A pediatric case highlights a left atrial myxoma causing these symptoms, emphasizing the need for cardiac evaluation in similar presentations.

Area of Science:

  • Cardiology
  • Dermatology
  • Genetics

Background:

  • Carney complex is a rare genetic disorder predisposing individuals to myxomas and spotty skin pigmentation.
  • Digital vasculitis and Raynaud's phenomenon are vascular conditions affecting the extremities.

Observation:

  • A 12-year-old male presented with a 6-week history of digital vasculitis, including finger color changes and palmar/plantar macules.
  • Physical examination revealed skin findings consistent with Carney complex and an abnormal cardiac examination.

Findings:

  • Echocardiography revealed a large left atrial mass causing diastolic obstruction and mitral valve insufficiency.
  • Surgical excision confirmed a pedunculated myxoma, consistent with Carney complex.

Implications:

  • This case underscores the importance of considering Carney complex in pediatric patients with apparent vasculitis.
  • Left atrial myxoma can present atypically, mimicking vascular disorders and necessitating thorough cardiac assessment.
  • Early diagnosis and management of Carney complex are crucial for preventing cardiac complications.

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