Genetic analysis in a patient with recurrent cardiac myxoma and endocrinopathy.
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.
Imai
Yasushi
Y
Department of Cardiovascular Medicine, University of Tokyo, Tokyo, Japan. imaiycard-tky@umin.ac.jp
Taketani
Tsuyoshi
T
Maemura
Koji
K
Takeda
Norihiko
N
Harada
Tomohiro
T
Nojiri
Takefumi
T
Kawanami
Daiji
D
Monzen
Koshiro
K
Hayashi
Dobun
D
Murakawa
Yuji
Y
Ohno
Minoru
M
Hirata
Yoshinobu
Y
Yamazaki
Tsutomu
T
Takamoto
Shinichi
S
Nagai
Ryozo
R
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*
D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D011506:Proteins; D017868:Cyclic AMP-Dependent Protein Kinases