Document Detail

Genetic analysis in a patient with recurrent cardiac myxoma and endocrinopathy.
MedLine Citation:
PMID:  16041174     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Case Reports; Journal Article    
Journal Detail:
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:
Created Date:  2005-07-25     Completed Date:  2005-09-29     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  101137683     Medline TA:  Circ J     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  994-5     Citation Subset:  IM    
Department of Cardiovascular Medicine, University of Tokyo, Tokyo, Japan.
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MeSH Terms
Acromegaly / 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*
Middle Aged
Myxoma / complications,  diagnosis,  genetics*
Proteins / genetics*
Reg. No./Substance:
0/Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; 0/PRKAR1A protein, human; 0/Proteins; EC AMP-Dependent Protein Kinases

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