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Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries

Part of: Cardiac Morphology

Published online by Cambridge University Press:  13 December 2017

Varun Aggarwal ,
Michaki Imamura ,
Carlos Acuna  and
Antonio G. Cabrera
Varun Aggarwal
Affiliation:
Department of Pediatrics, Lillie Frank Abercombie Section of Cardiology, Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas, United States of America
Michaki Imamura
Affiliation:
Department of Surgery, Division of Congenital Heart Surgery, Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas, United States of America
Carlos Acuna
Affiliation:
Department of Pediatrics, Division of Critical Care, Hospital Luis Calvo Mackenna, Providencia, Santiago, Chile
Antonio G. Cabrera*
Affiliation:
Department of Pediatrics, Lillie Frank Abercombie Section of Cardiology, Texas Children’s Hospital and Baylor College of Medicine, Houston, Texas, United States of America
*
Correspondence to: A. Cabrera, Department of Pediatrics, Lillie Frank Abercombie Section of Cardiology, Texas Children’s Hospital and Baylor College of Medicine, Houston, TX, United States of America. Tel: +1-832-826-5048; Fax: +1-832-825-5921; E-mail: agcabrer@texaschildrens.org
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Abstract

In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.

Keywords

Chromosome 22q11 deletionpulmonary atresiaintact ventricular septumconfluent branch pulmonary arteriesright aortic arch
Type
Brief Report
Information
Cardiology in the Young , Volume 28 , Issue 3 , March 2018 , pp. 467 - 470
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Copyright
© Cambridge University Press 2017 

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