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Medknow Publications, Indian Journal of Human Genetics, 2(17), p. 108, 2011

DOI: 10.4103/0971-6866.86200

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Early recurrent left atrial myxoma in a teenager with de novo mutation of Carney complex

Journal article published in 2011 by Mila S. Stajevic ORCID, Vladislav A. Vukomanovic, Vladimir D. Kuburovic, Slavisa M. Djuricic
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.