Linked Life Data

16041174

Source:http://linkedlifedata.com/resource/pubmed/id/16041174

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2005-7-25
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1346-9843
pubmed:author
pubmed:issnType
Print
pubmed:volume
69
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
994-5
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Genetic analysis in a patient with recurrent cardiac myxoma and endocrinopathy.
pubmed:affiliation
Department of Cardiovascular Medicine, University of Tokyo, Tokyo, Japan. imaiycard-tky@umin.ac.jp
pubmed:publicationType
Journal Article, Case Reports