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Familial cardiac myxoma: Carney's complex
Asha Mahilmaran1, Mukundan Seshadri, Pradeep G Nayar
1Institute for Cardiac Treatment & Research, Southern Railway Hospital, Ayanavaram, Chennai 600023, India.
Texas Heart Institute Journal
|March 18, 2003
Summary
Carney's complex, a rare genetic disorder, involves skin tumors, pigmentation, and heart myxomas. Early diagnosis and surgical intervention are crucial for managing life-threatening cardiac complications.
Area of Science:
- Cardiology
- Genetics
- Dermatology
Background:
- Carney's complex is a rare autosomal dominant disorder.
- It is characterized by spotty skin pigmentation, myxomas (heart and elsewhere), and endocrine and non-endocrine tumors.
Observation:
- A 12-year-old boy presented with Carney's complex, exhibiting multiple cutaneous tumors, pigmentation, and a large right atrial myxoma.
- The atrial myxoma caused significant tricuspid valve obstruction, posing a life-threatening emergency.
- His mother, aged 44, also had Carney's complex with cutaneous tumors and an asymptomatic left atrial myxoma.
Findings:
- Surgical removal of the atrial myxoma saved the patient's life.
- Myxoma recurrence was observed in the patient during follow-up.
- The mother's myxoma was detected incidentally during routine echocardiography, highlighting the varied clinical presentation.
Implications:
- This case underscores the importance of early diagnosis and vigilant monitoring for Carney's complex.
- Prompt surgical management is vital for life-threatening cardiac manifestations.
- Genetic counseling and family screening are essential due to the condition's familial nature.