Medknow Publications on behalf of Indian Society of Human Genetics
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\u2032s family was negative, demonstrating de
novo mutation of this rare disorder