| Genetic analysis in a patient with recurrent cardiac myxoma and endocrinopathy. | |
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MedLine Citation:
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PMID: 16041174 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 alpha (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. |
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Authors:
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Yasushi Imai; Tsuyoshi Taketani; Koji Maemura; Norihiko Takeda; Tomohiro Harada; Takefumi Nojiri; Daiji Kawanami; Koshiro Monzen; Dobun Hayashi; Yuji Murakawa; Minoru Ohno; Yoshinobu Hirata; Tsutomu Yamazaki; Shinichi Takamoto; Ryozo Nagai |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Circulation journal : official journal of the Japanese Circulation Society Volume: 69 ISSN: 1346-9843 ISO Abbreviation: Circ. J. Publication Date: 2005 Aug |
Date Detail:
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Created Date: 2005-07-25 Completed Date: 2005-09-29 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 101137683 Medline TA: Circ J Country: Japan |
Other Details:
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Languages: eng Pagination: 994-5 Citation Subset: IM |
Affiliation:
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Department of Cardiovascular Medicine, University of Tokyo, Tokyo, Japan. imaiycard-tky@umin.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acromegaly
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complications,
diagnosis,
genetics Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Cyclic AMP-Dependent Protein Kinases Endocrine Gland Neoplasms / complications, diagnosis, genetics* Heart Neoplasms / complications, diagnosis, genetics* Humans Male Middle Aged Mutation* Myxoma / complications, diagnosis, genetics* Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; 0/PRKAR1A protein, human; 0/Proteins; EC 2.7.11.11/Cyclic AMP-Dependent Protein Kinases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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