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

Published online by Cambridge University Press:  13 December 2017

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

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.

Type
Brief Report
Copyright
© Cambridge University Press 2017 

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References

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