Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
A Japanese Case of Familial Cardiac Myxoma Associated with a Mutation of the PRKAR1α Gene
Satoshi KOJIMAMasataka SUMIYOSHIYoshiro WATANABESatoru SUWAMichio MATSUMOTOYasuro NAKATAHiroyuki DAIDA
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JOURNALS OPEN ACCESS

2005 Volume 44 Issue 6 Pages 607-610

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Abstract

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 PRKAR1α gene.

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© 2005 by The Japanese Society of Internal Medicine
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