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Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries

Published online by Cambridge University Press:  22 January 2014

Colin J. McMahon ,
Conall T. Morgan  and
Marie T. Greally
Colin J. McMahon*
Affiliation:
Department of Paediatric Cardiology, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
Conall T. Morgan
Affiliation:
Department of Paediatric Cardiology, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
Marie T. Greally
Affiliation:
National Centre for Medical Genetics, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
*
Correspondence to: Dr C. J. McMahon, FRCPI, Department of Paediatric Cardiology, Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland. Tel: +01 4096160; Fax: +01 4096181; E-mail: [email protected]
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Abstract

We describe a case of a baby girl born with hypoplastic left heart syndrome consisting of mitral atresia, aortic atresia, hypoplastic ascending aorta, and left ventricle. The pulmonary arteries were hypoplastic, measuring 3 mm. Fluorescence in situ hybridisation analysis demonstrated a microduplication of chromosome 22q11.2. Subsequent array comparative genomic hybridisation showed a gain of 2.3 Mb in one copy of chromosome 22q at band 22q11.21. The proband underwent a successful Norwood procedure with Sano shunt and subsequently underwent bi-directional Glenn shunt and Fontan procedure. This report highlights the association between hypoplastic left heart syndrome with hypoplastic pulmonary arteries and chromosome 22q11.21 microduplication.

Keywords

Hypoplastic left heart syndromemitral atresiaaortic atresiachromosome 22q11.2 microduplicationfluorescence in situ hybridisationarray comparative genomic hybridisation
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 1 , January 2015 , pp. 167 - 170
Copyright
© Cambridge University Press 2014 

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