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Prenatal diagnosis of topsy-turvy heart

Published online by Cambridge University Press:  01 June 2008

Edgar Jaeggi ,
David Chitayat ,
Fraser Golding ,
Peter Kim  and
Shi-Joon Yoo
Edgar Jaeggi*
Affiliation:
Fetal Cardiac Program, Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Canada
David Chitayat
Affiliation:
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada
Fraser Golding
Affiliation:
Fetal Cardiac Program, Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Canada
Peter Kim
Affiliation:
Fetal Cardiac Program, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Canada
Shi-Joon Yoo
Affiliation:
Fetal Cardiac Program, Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Canada Fetal Cardiac Program, Section of Cardiac Imaging, Department of Diagnostic Imaging, The Hospital for Sick Children, Mount Sinai Hospital, University of Toronto, Toronto, Canada
*
Correspondence to: Edgar T. Jaeggi, MD, Head, Fetal Cardiac Program, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Tel: (416) 813-7466; Fax: (416) 813-7547; E-mail: edgar.jaeggi@sickkids.ca
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Abstract

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.

Keywords

Superior-inferior ventriclesfetal echocardiographymalposition
Type
Original Article
Information
Cardiology in the Young , Volume 18 , Issue 3 , June 2008 , pp. 337 - 342
Copyright
Copyright © Cambridge University Press 2008

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