Abstract

Carney complex is a genetic condition in which affected individuals develop benign tumours in various tissues, including the heart. Most individuals with Carney complex have a mutation in the PRKAR1A gene, which encodes the regulatory R1 subunit of protein kinase A — a significant component of the cyclic-AMP signalling pathway. Genetically engineered mutant Prkar1a mouse models show an increased propensity to develop tumours, and have established a role for R1 in initiating tumour formation and, potentially, in maintaining cell proliferation. Ongoing investigations are exploring the intersection of R1-dependent cell signalling with other gene products such as perinatal myosin, mutation of which can also cause cardiac myxomas.

Author affiliations

1. Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, 525 East 68th Street, New York, New York 10021, USA.

Correspondence to: Craig T. Basson¹ Email: ctbasson@med.cornell.edu

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