Document Detail

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - A case report and review of congenital heart defects reported in the human ciliopathies.
MedLine Citation:
PMID:  22910529     Owner:  NLM     Status:  Publisher    
We report a case of a 2 year-old boy with Joubert Syndrome and Related Disorders (JSRD), severe congenital aortic stenosis, bicuspid aortic valve and an atrial septal defect. JSRD is one of a group of conditions known as 'ciliopathies', whose multi-organ involvement results from primary cilia dysfunction. To date, there have been no other reported cases of aortic stenosis and bicuspid aortic valve associated with JSRD. Cardiac screening is not currently recommended in the management guidelines for individuals suspected of having JSRD. We speculate that while the presence of congenital aortic stenosis in this child could be caused by an unrelated genetic mechanism, it could also represent a phenotypic overlap with another ciliopathy, Bardet Biedl syndrome, in which aortic stenosis is more commonly reported. We also review the range of cardiac malformations reported to be present in all human diseases known to be ciliopathies, in order to assist with the investigation and management of individuals with a suspected or proven ciliopathy.
Natalya Karp; Lars Grosse-Wortmann; Sarah Bowdin
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-3
Journal Detail:
Title:  European journal of medical genetics     Volume:  -     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Masson SAS. All rights reserved.
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada M5G 1X8.
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