Document Detail

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.
MedLine Citation:
PMID:  22341669     Owner:  NLM     Status:  MEDLINE    
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.
George Briassoulis; Vladimir Kuburovic; Paraskevi Xekouki; Nicholas Patronas; Meg F Keil; Charalampos Lyssikatos; Mila Stajevic; Gordana Kovacevic; Constantine A Stratakis
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't     Date:  2012-02-15
Journal Detail:
Title:  Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association     Volume:  21     ISSN:  1532-8511     ISO Abbreviation:  J Stroke Cerebrovasc Dis     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-05     Completed Date:  2013-04-23     Revised Date:  2013-11-07    
Medline Journal Info:
Nlm Unique ID:  9111633     Medline TA:  J Stroke Cerebrovasc Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  914.e1-8     Citation Subset:  IM    
Copyright Information:
Published by Elsevier Inc.
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
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MeSH Terms
Adrenal Cortex Diseases / genetics
Carney Complex / complications,  diagnosis,  genetics*,  therapy
Codon, Nonsense*
Cushing Syndrome / genetics
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics*
DNA Mutational Analysis
Diffusion Magnetic Resonance Imaging
Genetic Predisposition to Disease
Middle Aged
Risk Factors
Sex Factors
Stroke / diagnosis,  genetics*,  prevention & control
Grant Support
Reg. No./Substance:
0/Codon, Nonsense; 0/Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; 0/PRKAR1A protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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