Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries.
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.
1Department of Paediatric Cardiology,Our Lady's Children's Hospital,Crumlin,Dublin,Ireland.
Colin J
CJ
McMahon
1Department of Paediatric Cardiology,Our Lady's Children's Hospital,Crumlin,Dublin,Ireland.
Conall T
CT
Morgan
2National Centre for Medical Genetics,Our Lady's Children's Hospital,Crumlin,Dublin,Ireland.
Marie T
MT
Greally
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D004452:Echocardiography; D005260:Female; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D007231:Infant, Newborn; D058327:Norwood Procedures; D011651:Pulmonary Artery / Q000002:abnormalities*; D018633:Pulmonary Atresia / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery