Skip to Main Content
  • Become an Access Reviewer
  • Clinical Phenotypes
  • OMMBID Advisory banner
  • Ommbid banner
  • Ommbid latest banner



  1. Cardiac myxomas are neoplasms that occur in at least 7 per 10,000 individuals. They are the most common primary cardiac tumor in adults.1 The typical cardiac myxoma is a sporadic, benign, nonrecurring left atrial tumor. These neoplasms are thought to arise from primitive, subendocardial, pluripotent, mesenchymal cells.2 Morbidity and mortality from cardiac myxomas is the result of embolic stroke, heart failure, and/or constitutional symptoms. Prompt surgical resection of cardiac myxomas is recommended.

  2. A significant portion of cardiac myxomas is related to Carney complex, 3 a familial autosomal dominant syndrome. Familial cardiac myxomas are associated with spotty pigmentation of the skin; endocrine dysfunction; extracardiac (most often cutaneous) myxomas; schwannomas; pituitary adenomas; thyroid tumors; testis tumors; ovarian tumors; and breast tumors. Not all patients with Carney complex develop cardiac myxomas, but affected individuals usually have at least two components of the complex, or one component as well as a significant family history.

  3. Clinical evaluation and genetic linkage analyses4, 5 of families affected by Carney complex have suggested two chromosomal loci: chromosome 2p16 and chromosome 17q24. Linkage to the chromosome 17q24 locus was initially observed in 4 families affected by Carney complex.4 Positional cloning studies have determined that familial cardiac myxomas and Carney complex, linked to chromosome 17q24, are caused by mutations in the PRKAR1α gene that encodes the R1α regulatory subunit of cyclic adenosine monophosphate (cAMP)-dependent protein kinase A (PKA). Haploinsufficiency of PRKAR1α in Carney complex patients predicts a tumor-suppressor function for this gene.6, 7 Although some tumors of Carney complex patients with mutations of PRKAR1α show loss-of-heterozygosity (LOH) at chromosome 17q24, this is not a universal finding and is apparently not required for tumorigenesis.6, 7 Thus, Carney complex is a multiple neoplasia syndrome which, like Peutz-Jeghers syndrome, is associated with dermatologic abnormalities and is caused by gene mutations that modify the activity of a protein kinase.

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

OMMBID Full Site: One-Year Subscription

Connect to the full suite of OMMBID content including new and revised chapters that reflect the latest research, image galleries, clinical phenotypes, and more.

$295 USD
Buy Now

Pay Per View: Timed Access to all of OMMBID

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.