Article

Pediatric Cardiology

, Volume 9, Issue 2, pp 95-101

First online:

Spectrum of Di George syndrome in patients with truncus arteriosus: Expanded Di George syndrome

  • Dorothy J. RadfordAffiliated withDepartment of Cardiology, Prince Charles Hospital
  • , Lisa PerkinsAffiliated withImmunology Laboratory, Department of Pathology, Mater Hospital
  • , Rosa LachmanAffiliated withImmunology Laboratory, Department of Pathology, Mater Hospital
  • , Y. H. ThongAffiliated withDepartment of Child Health, University of Queensland, Mater Children's Hospital

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Summary

A study of 26 patients with truncus arteriosus showed a high prevalence of facial dysmorphism, aortic arch abnormalities, extracardiac malformations, and significant prenatal risk factors. There was little evidence of parathyroid or thymic abnormalities. However, there was laboratory evidence of immune deficiency, especially T-helper lymphocytes, and clinical evidence of predilection to infection. These findings suggest that patients with truncus arteriosus belong to the spectrum of the Di George syndrome.

Key words

Truncus arteriosus Di George syndrome Immunodeficiency Prenatal risk factors