DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin

• Published in: British Heart Journal Vol. 66; no. 4; pp. 308 - 312
• Main Authors: Wilson, D I, Cross, I E, Goodship, J A, Coulthard, S, Carey, A H, Scambler, P J, Bain, H H, Hunter, A S, Carter, P E, Burn, J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Cardiovascular Society 01-10-1991; BMJ; BMJ Publishing Group LTD
• Subjects: Aortic Coarctation - genetics; Biological and medical sciences; Blotting, Southern; Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome - genetics; Female; Heart Septal Defects, Ventricular - genetics; Humans; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunopathology; Male; Medical sciences; Pedigree; Chromosomal aberration; Endocrinopathy; Human; Aortic coarctation; Immunopathology; Ventricular septal defect; Congenital; DiGeorge syndrome; Inheritance; Cardiovascular disease; Hemopathy; Twin; Case study; Autoradiography; Concomitant disease; Heart disease; Hypoparathyroidism; T-Lymphocyte
• ISSN: 0007-0769; 1468-201X; 2053-5864
• DOI: 10.1136/hrt.66.4.308

DiGeorge syndrome was diagnosed in an infant who had an interrupted aortic arch, hypoparathyroidism, and low T lymphocyte numbers. Two siblings had heart defects that are not commonly described in DiGeorge syndrome (a membranous ventricular septal defect and coarctation of the aorta respectively). These siblings did not have evidence of thymic dysfunction or hypoparathyroidism. Chromosome analysis showed that the mother, whose cardiovascular examination was normal, and her three offspring with heart defects had a 22q11 interstitial deletion, which was confirmed by molecular analysis. This family suggests that 22q11 deletions can cause apparently isolated heart defects and that the range of these defects may be wider than previously recognised. Once the genes that are deleted in this family are characterised they will be useful candidate genes in the investigation of isolated cardiac malformations.