A Japanese case of familial cardiac myxoma associated with a mutation of the PRKAR1alpha gene.
Familial cardiac myxoma is inherited as an autosomal dominant syndrome. Here, we report a Japanese case of familial cardiac myxoma identified as a genetic abnormality. The mother experienced multiple recurrence of tumors in the left atrium and left ventricle 40 months after surgical resection of a left atrial myxoma. All recurrent tumors were successfully resected. Her daughter also had a solitary myxoma in the left atrium, but she had no recurrence after the operation. Both patients had lentigines in their face but no endocrine abnormality. Molecular genetic analysis demonstrated involvement of a mutation in the PRKAR1alpha gene.
Kojima
Satoshi
S
Department of Cardiology, Juntendo University Shizuoka Hospital, Nagaoka, Izunokuni-shi.
Sumiyoshi
Masataka
M
Watanabe
Yoshiro
Y
Suwa
Satoru
S
Matsumoto
Michio
M
Nakata
Yasuro
Y
Daida
Hiroyuki
H
D000293:Adolescent; D000328:Adult; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D017868:Cyclic AMP-Dependent Protein Kinases; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006338:Heart Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007564:Japan; D009154:Mutation / Q000235:genetics; D009232:Myxoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics* / Q000378:metabolism
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D011506:Proteins; D017868:Cyclic AMP-Dependent Protein Kinases