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    
Abstract/OtherAbstract:
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.
Authors:
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.
Affiliation:
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
Descriptor/Qualifier:
Adolescent
Adrenal Cortex Diseases / genetics
Adult
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
Echocardiography
Exons
Female
Genetic Predisposition to Disease
Humans
Introns
Middle Aged
Pedigree
Phenotype
Prognosis
Recurrence
Risk Factors
Sex Factors
Stroke / diagnosis,  genetics*,  prevention & control
Grant Support
ID/Acronym/Agency:
Z01-HD-000642-04/HD/NICHD NIH HHS; ZIA HD008920-01/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Codon, Nonsense; 0/Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; 0/PRKAR1A protein, human
Comments/Corrections

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


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