Document Detail

A genetic etiology for interruption of the aortic arch type B.
MedLine Citation:
PMID:  9285664     Owner:  NLM     Status:  MEDLINE    
Interrupted aortic arch (IAA) type B is a congenital heart defect believed to be caused by an anomaly of bronchial arch mesenchymal development. IAA type B has been associated with DiGeorge syndrome (DGS), which includes conotruncal heart defects, T-cell immunodeficiency, hypocalcemia, and facial abnormalities. The great majority of DGS cases are associated with hemizygous deletions at the chromosome 22q11 locus. The present study was designed to establish the involvement of the 22q11 locus in the etiology of IAA type B, independently from the typical DGS phenotype. An evaluation was performed on 73 patients with conotruncal heart defects using fluorescence in situ hybridization (FISH) analysis with probes from the 22q11 DGS locus. From this group, 7 patients were deleted (including 4 of the 11 patients with IAA type B). FISH analysis was extended to a total of 22 patients with IAA type B and 11 of these (50%) were deleted. FISH and Southern blot analyses using additional markers within the DiGeorge chromosomal region were performed on patients found not to be deleted in the initial FISH screening. No small deletions or rearrangements were detected. In our patient population, a single, specific genetic defect is the basis for one half of the IAA type B cases. These data suggest that IAA type B is one of the most etiologically homogeneous congenital heart defects. A 22q11 deletion in IAA type B may or may not be associated with the typical DGS phenotype. Therefore, IAA type B, per se, should be an indication for 22q11 deletion testing.
M B Lewin; E A Lindsay; V Jurecic; V Goytia; J A Towbin; A Baldini
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The American journal of cardiology     Volume:  80     ISSN:  0002-9149     ISO Abbreviation:  Am. J. Cardiol.     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1997-09-16     Completed Date:  1997-09-16     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0207277     Medline TA:  Am J Cardiol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  493-7     Citation Subset:  AIM; IM    
Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston 77030, USA.
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MeSH Terms
Aorta, Thoracic / abnormalities*
Blotting, Southern
Chromosome Deletion*
Chromosomes, Human, Pair 22 / genetics*
DNA Probes
Heart Defects, Congenital / genetics*
In Situ Hybridization, Fluorescence
Grant Support
Reg. No./Substance:
0/DNA Probes

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

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