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Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary
Colin J McMahon1, Conall T Morgan1, Marie T Greally2
11Department of Paediatric Cardiology,Our Lady's Children's Hospital,Crumlin,Dublin,Ireland.
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.
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