This syndrome is a genetically heterogeneous, autosomal dominant disease which results in multiple cardiac, endocrine, cutaneous, and neural tumors, as well as a variety of pigmented lesions of the skin and mucosae.
The diagnosis requires two or more of the following: cardiac myxomasarcoma (usually affecting the left atrium), primary pigmented nodular adrenocortical disease with or without Cushing' syndrome, growth hormone- or prolactin-producing pituitary adenomas, melanocytic nevi, thyroid nodular hyperplasia or carcinoma, testicular neoplasms, schwannoma, and certain other proliferative lesions.
In approximately 40% of cases, a variety of inactivating mutations of the protein kinase A R1 alpha regulatory subunit (PRKAR1A) and subsequent unregulated protein kinase A signaling have been described.
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- Roberts SR (1959) Myxoma of the heart in a dog. J Am Vet Med Assoc 134:185–188
- Celestino R et al (2012) Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors. Eur J Hum Genet Sep 5
- Kirschner LS et al (2000) Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet 9:3037–3046