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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 2, 2011, pp. 108-110
Bioline Code: hg11026
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 17, No. 2, 2011, pp. 108-110

 en Early recurrent left atrial myxoma in a teenager with de novo mutation of Carney complex
Stajevic, Mila S.; Vukomanovic, Vladislav A.; Kuburovic, Vladimir D. & Djuricic, Slavisa M.


We report a case of an extremely early recurrence of left atrial myxoma in a 13-year-old girl. On hospital admission, the clinical presentation was of cerebral embolism with noticeable spotty skin pigmentation and hypertelorism. The left atrial myxoma originated from the roof of the left atrium. The histology specimen showed typical finding of a myxoma. Six months later a new intracardial mass was evacuated, the postoperative result showing the same type of myxomatous tissue. Genetic investigations demonstrated Carney complex. The genetic analysis of the child′s family was negative, demonstrating de novo mutation of this rare disorder.

Carney, left atrium, myxoma, recurrence

© Copyright 2011 Indian Journal of Human Genetics.
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