title: Genetic analysis in a patient with recurrent cardiac myxoma and endocrinopathy.
abstract: 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.
authors.affiliation: Department of Cardiovascular Medicine, University of Tokyo, Tokyo, Japan. imaiycard-tky@umin.ac.jp
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Imai
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Taketani
authors.forename: Koji
authors.initials: K
authors.lastname: Maemura
authors.forename: Norihiko
authors.initials: N
authors.lastname: Takeda
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Harada
authors.forename: Takefumi
authors.initials: T
authors.lastname: Nojiri
authors.forename: Daiji
authors.initials: D
authors.lastname: Kawanami
authors.forename: Koshiro
authors.initials: K
authors.lastname: Monzen
authors.forename: Dobun
authors.initials: D
authors.lastname: Hayashi
authors.forename: Yuji
authors.initials: Y
authors.lastname: Murakawa
authors.forename: Minoru
authors.initials: M
authors.lastname: Ohno
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Hirata
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Yamazaki
authors.forename: Shinichi
authors.initials: S
authors.lastname: Takamoto
authors.forename: Ryozo
authors.initials: R
authors.lastname: Nagai
mesh_terms: D000172:Acromegaly / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D017868:Cyclic AMP-Dependent Protein Kinases; D004701:Endocrine Gland Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006338:Heart Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009232:Myxoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D011506:Proteins; D017868:Cyclic AMP-Dependent Protein Kinases