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KMID : 0364020100430010067
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Korean Journal of Thoracic and Cardiovascular Surgery
2010 Volume.43 No. 1 p.67 ~ p.72
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Familiar Myxoma with a Positive Genetic Test A case report-
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Lee Hyang-Lim
Park Kook-Yang
Kim Kyung-Hee
Lee Seung-Tae
Ki Chang-Seok
Jeon Yang-Bin
Choi Chang-Hyu
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Abstract
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Ten percent of all myxomas are the familial form. Familial myxomas appear to have autosomal dominant transmission. We experienced two siblings with familial myxomas. A left atrial myxoma was surgically removed in a 21-year-old woman. Six years later, other myxomas were found in the right atrium and the left atrium and these were also surgically removed. Right ventricular and right atrial myxomas were surgically excised in her brother. The two siblings were found to have frame-shift mutations in the PRKAR1A gene (c.537delA; p.Gly180GlufsX26), which is the causative gene for Carney complex. Obtaining the genetic diagnosis makes it possible to prepare more effective therapeutic strategies for these patients and the gene carriers. Complete excision, ruling out multicentricity and proper postoperative follow up are all necessary to avoid recurrence of myxoma.
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KEYWORD
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Myxoma, Genetic analysis, Cardiovascular surgery
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