FaCD Online Syndrome Fact Sheet

Last updated: 22 Feb 2011

Name: Cardiac Myxomas, Familial Clustering of

Mode of Inheritance: AR?/ AD?

Genes

PRKAR1A, mapped to 17q22-q24

Tumor features

cardiac myxoma

Comment

Familial cases of cardiac myxomas without further signs of Carney complex have been reported[1]. A high rate of recurrence is associated with these cases.[1]. Some reports lack the details necessary to review the possibilty of Carney complex as underlying disorder[2]. Families may carry a germline mutation in PRKAR1A, the gene involved in Carney complex[3,4] and may be regarded as having a variant of that disorder.

References

[1] Deshpande A, Kumar S, Chopra P. Recurrent, biatrial, familial cardiac myxomas. Int J Cardiol 1994; 47:71-73.
[2] Turhan S, Tulunay C, Altin T, Dincer I. Second recurrence of familial cardiac myxomas in atypical locations. Can J Cardiol. 2008 Sep;24(9):715-6.
[3] Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT. Mutations in the protein kinase A R1 alpha regulatory subunit cause familial cardiac myxomas and Carney complex. JOURNAL OF CLINICAL INVESTIGATION 2000; 106(5):R31-R38.
[4] Kojima S, Sumiyoshi M, Watanabe Y, Suwa S, Matsumoto M, Nakata Y, Daida H. A Japanese case of familial cardiac myxoma associated with a mutation of the PRKAR1alpha gene. Internal medicine (Tokyo, Japan) 2005; 44(6):607-10.