Genetic Analysis in a Patient With Recurrent Cardiac Myxoma and Endocrinopathy
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- Imai Yasushi
- Departments of Cardiovascular Medicine, University of Tokyo
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- Taketani Tsuyoshi
- Cardiothoracic Surgery, University of Tokyo
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- Maemura Koji
- Departments of Cardiovascular Medicine, University of Tokyo
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- Takeda Norihiko
- Departments of Cardiovascular Medicine, University of Tokyo
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- Harada Tomohiro
- Departments of Cardiovascular Medicine, University of Tokyo
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- Nojiri Takefumi
- Departments of Cardiovascular Medicine, University of Tokyo
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- Kawanami Daiji
- Departments of Cardiovascular Medicine, University of Tokyo
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- Monzen Koshiro
- Departments of Cardiovascular Medicine, University of Tokyo
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- Hayashi Dobun
- Departments of Cardiovascular Medicine, University of Tokyo
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- Murakawa Yuji
- Departments of Cardiovascular Medicine, University of Tokyo
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- Ohno Minoru
- Departments of Cardiovascular Medicine, University of Tokyo
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- Hirata Yoshinobu
- Departments of Cardiovascular Medicine, University of Tokyo
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- Yamazaki Tsutomu
- Clinical Bioinformatics, Graduate School of Medicine, University of Tokyo
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- Takamoto Shinichi
- Cardiothoracic Surgery, University of Tokyo
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- Nagai Ryozo
- Departments of Cardiovascular Medicine, University of Tokyo
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説明
A 60 year-old male was referred for treatment of a cardiac myxoma in the right atrium. He had a past history of left atrial cardiac myxoma at age 49 and pituitary microadenoma related to acromegaly at age 55. He did not have a family history of cardiac neoplasm or endocrinopathy. The intracardiac tumor was resected and its pathology was compatible with myxoma. A diagnosis of Carney complex (CNC) was made because the diagnostic criteria of this neoplastic syndrome were satisfied by the presence of recurrent cardiac myxoma, endocrine tumor and spotty skin pigmentation. In genetic analysis novel frame shift mutation was detected in exon 2 in a heterozygous fashion in the causative gene of CNC, protein kinase A regulatory subunit 1 α (PRKAR1A). This genetic mutation is thought to cause haplo-insufficiency of PRKAR1A resulting in tumorigenesis. Although it is the most common, usually benign, cardiac tumor, myxoma can cause a critical clinical situation and thus detecting the PRKAR1A mutation can assist with prognosis. (Circ J 2005; 69: 994 - 995)<br>
収録刊行物
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- Circulation Journal
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Circulation Journal 69 (8), 994-995, 2005
一般社団法人 日本循環器学会
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詳細情報 詳細情報について
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- CRID
- 1390282680079714688
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- NII論文ID
- 110002696216
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- NII書誌ID
- AA11591968
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- ISSN
- 13474820
- 13469843
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- PubMed
- 16041174
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可
