Familiar Myxoma with a Positive Genetic Test: A case report.
- Author:
Hyang Lim LEE
1
;
Kook Yang PARK
;
Kyung Hee KIM
;
Seung Tae LEE
;
Chang Seok KI
;
Yang Bin JEON
;
Chang Hyu CHOI
Author Information
1. Department of Thoracic and Cardiovascular Surgery, Gachon University Gil Hospital, Korea. kkyypak@gilhospital.com
- Publication Type:Case Report
- Keywords:
Myxoma;
Genetic analysis;
Cardiovascular surgery
- MeSH:
Carney Complex;
Female;
Follow-Up Studies;
Heart Atria;
Humans;
Myxoma;
Recurrence;
Siblings;
Young Adult
- From:The Korean Journal of Thoracic and Cardiovascular Surgery
2010;43(1):67-72
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
