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Literature DB >> 3399433

Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome.

D J Radford¹, L Perkins, R Lachman, Y H Thong.

Abstract

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.

Entities: Disease Species

Mesh：

Substances：
Calcium

Year: 1988 PMID： 3399433 DOI： 10.1007/BF02083707

Source DB: PubMed Journal: Pediatr Cardiol ISSN： 0172-0643 Impact factor: 1.655

33 in total

Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome.

1. Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch.

2. Serum levels of immune globulins in health and disease: a survey.

3. Third and fourth pharyngeal pouch syndrome, associated vascular anomalies and hypocalcemic seizures.

4. DiGeorge's syndrome in monozygotic twins. Treatment with calcitriol.

5. Characterization of conotruncal malformations following ablation of "cardiac" neural crest.

6. Congenital cardiac anomalies associated with the DiGeorge syndrome: a neonatal experience.

7. A deletion in chromosome 22 can cause DiGeorge syndrome.

8. Immune deficiency in fetal alcohol syndrome.

9. Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

10. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

1. Persistent truncus arteriosus with double aortic arch.

2. Persistent truncus arteriosus with double aortic arch and mitral stenosis.

Review 3. The association between immunodeficiency and congenital heart disease.

4. T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome.

5. Abnormalities in lymphocyte populations in infants with neural crest cardiovascular defects.

6. DiGeorge syndrome: part of CATCH 22.

Review 7. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

8. Interrupted aortic arch in infancy: a 10-year experience.