Document Detail

Prenatal diagnosis of topsy-turvy heart.
MedLine Citation:
PMID:  18460225     Owner:  NLM     Status:  MEDLINE    
We describe two siblings of consanguineous parents with a prenatal diagnosis of a currently unique form of congenital cardiac disease characterized by superior-inferior atrial and ventricular arrangement, concordant atrioventricular and ventriculo-arterial connections with normal arterial relationships, and a bizarre topography of the ventricular outlets, with the arterial poles being displaced posterior-inferiorly within the thorax. The abnormally low position of the aortic arch resulted in elongation and stretching of the airways, with severe compression of the trachea and left main bronchus in the surviving sibling. The finding of the same rare abnormality in a son and a daughter born to consanguineous parents supports a single gene disorder with a recessive mode of inheritance.
Edgar Jaeggi; David Chitayat; Fraser Golding; Peter Kim; Shi-Joon Yoo
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Publication Detail:
Type:  Journal Article     Date:  2008-05-06
Journal Detail:
Title:  Cardiology in the young     Volume:  18     ISSN:  1047-9511     ISO Abbreviation:  Cardiol Young     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-05-28     Completed Date:  2008-10-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9200019     Medline TA:  Cardiol Young     Country:  England    
Other Details:
Languages:  eng     Pagination:  337-42     Citation Subset:  IM    
Fetal Cardiac Program, Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
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MeSH Terms
Fetal Diseases / diagnosis*,  genetics
Fetal Heart / abnormalities*
Genes, Recessive
Heart Atria / ultrasonography
Heart Ventricles / abnormalities*,  ultrasonography
Infant, Newborn
Magnetic Resonance Imaging
Ultrasonography, Prenatal

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

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