Indian Journal of Human Genetics
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CASE REPORT
Year : 2011  |  Volume : 17  |  Issue : 2  |  Page : 108-110

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


1 Department of Pediatric Cardiac Surgery, Mother and Child Health Institute of Serbia "Dr Vukan Cupic", Belgrade, Serbia,
2 Department of Pediatric Cardiology, Mother and Child Health Institute of Serbia "Dr Vukan Cupic", Belgrade, Serbia,
3 Department of Pediatric Pathology, Mother and Child Health Institute of Serbia "Dr Vukan Cupic", Belgrade, Serbia,

Correspondence Address:
Mila S Stajevic
Department of Pediatric Cardiac Surgery, Mother and Child Health Institute of Serbia "Dr Vukan Cupic", ul. Radoja Dakica 6-8, 11070, New Belgrade, Serbia

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.86200

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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.


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