Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented

J Stroke Cerebrovasc Dis. 2012 Nov;21(8):914.e1-8. doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. Epub 2012 Feb 15.


Background: Intracardiac myxomas in Carney complex are significant causes of cardiovascular morbidity and mortality through embolic stroke and heart failure. The genetic, clinical, and laboratory characteristics of Carney complex-related strokes from atrial myxomas have not been described. The regulatory subunit (R1A) of the protein kinase gene (PRKAR1A) is mutated in >60% of patients with Carney complex.

Methods: We studied patients with strokes and cardiac myxomas that were hospitalized in our institution and elsewhere; a total of 7 patients with 16 recurrent atrial myxomas and >14 episodes of strokes were identified.

Results: Neurologic deficits were reported; in 1 patient, an aneurysm developed at the site of a previous stroke. All patients were females, were also diagnosed with Cushing syndrome, and all had additional tumors or other Carney complex manifestations. Other than gender, although there was a trend for patients being overweight and hypertensive, no other risk factors were identified. A total of 5 patients (71%) had a PRKAR1A mutation; all mutations (c418_419delCA, c.340delG/p.Val113fsX15, c.353_365del13/p.Ile118fsX6, c.491_492delTG/p.Val164fsX4, and c.177+1G>A) were located in exons 3 to 5 and introns 2 to 3, and all led to a non-sense PRKAR1A mRNA.

Conclusions: Female patients with Carney complex appear to be at a high risk for recurrent atrial myxomas that lead to multiple strokes. Early identification of a female patient with Carney complex is of paramount importance for the early diagnosis of atrial myxomas and the prevention of strokes.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenal Cortex Diseases / genetics
  • Adult
  • Carney Complex / complications
  • Carney Complex / diagnosis
  • Carney Complex / genetics*
  • Carney Complex / therapy
  • Codon, Nonsense*
  • Cushing Syndrome / genetics
  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics*
  • DNA Mutational Analysis
  • Diffusion Magnetic Resonance Imaging
  • Echocardiography
  • Exons
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Introns
  • Middle Aged
  • Pedigree
  • Phenotype
  • Prognosis
  • Recurrence
  • Risk Factors
  • Sex Factors
  • Stroke / diagnosis
  • Stroke / genetics*
  • Stroke / prevention & control


  • Codon, Nonsense
  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
  • PRKAR1A protein, human