Skip to main content
NCBI home page
British Heart Journal logoLink to British Heart Journal
. 1980 Oct;44(4):452–459. doi: 10.1136/hrt.44.4.452

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

P Moerman, P Goddeeris, J Lauwerijns, L G Van der Hauwaert
PMCID: PMC482426  PMID: 7426208

Abstract

Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot.

Full text

PDF
452

Images in this article

454Image
on p.454
455Image
on p.455
456Image
on p.456
456Image
on p.456

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. CELORIA G. C., PATTON R. B. Congenital absence of the aortic arch. Am Heart J. 1959 Sep;58:407–413. doi: 10.1016/0002-8703(59)90157-7. [DOI] [PubMed] [Google Scholar]
  2. Cintado Bueno C., Ariza Almeida S., Castillo Camacho J. A., Atienza Contreras A., Toro Ortega J. Síndrome de Di Giorge Estudio cardiológico en tres casos. An Esp Pediatr. 1977 Jun-Jul;10(6-7):532–542. [PubMed] [Google Scholar]
  3. Dische M. R. Lymphoid tissue and associated congenital malformations in thymic agenesis. Findings in one infant and two severely malformed stillborns. Arch Pathol. 1968 Sep;86(3):312–316. [PubMed] [Google Scholar]
  4. Freedom R. M., Rosen F. S., Nadas A. S. Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch. Circulation. 1972 Jul;46(1):165–172. doi: 10.1161/01.cir.46.1.165. [DOI] [PubMed] [Google Scholar]
  5. Gatti R. A., Gershanik J. J., Levkoff A. H., Wertelecki W., Good R. A. DiGeorge syndrome associated with combined immunodeficiency. Dissociation of phytohemagglutinin and mixed leukocyte culture responses. J Pediatr. 1972 Nov;81(5):920–926. doi: 10.1016/s0022-3476(72)80544-4. [DOI] [PubMed] [Google Scholar]
  6. Harvey J. C., Dungan W. T., Elders M. J., Hughes E. R. Third and fourth pharyngeal pouch syndrome, associated vascular anomalies and hypocalcemic seizures. Clin Pediatr (Phila) 1970 Aug;9(8):496–499. doi: 10.1177/000992287000900822. [DOI] [PubMed] [Google Scholar]
  7. LOBDELL D. H. Congenital absence of the parathyroid glands. AMA Arch Pathol. 1959 Apr;67(4):412–415. [PubMed] [Google Scholar]
  8. Lischner H. W. DiGeorge syndrome(s). J Pediatr. 1972 Nov;81(5):1042–1044. doi: 10.1016/s0022-3476(72)80575-4. [DOI] [PubMed] [Google Scholar]
  9. Robinson H. B., Jr DiGeorge's or the III-IV pharyngeal pouch syndrome: pathology and a theory of pathogenesis. Perspect Pediatr Pathol. 1975;2:173–206. [PubMed] [Google Scholar]
  10. Rose J. S., Levin D. C., Goldstein S., Laster W. Congenital absence of the pulmonary valve associated with congenital aplasia of the thymus (DiGeorge's syndrome). Am J Roentgenol Radium Ther Nucl Med. 1974 Sep;122(1):97–102. doi: 10.2214/ajr.122.1.97. [DOI] [PubMed] [Google Scholar]
  11. Shepard M. K., Linman S. K., Cavazos A. Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome. Birth Defects Orig Artic Ser. 1976;12(6):123–125. [PubMed] [Google Scholar]
  12. Steele R. W., Limas C., Thurman G. B., Schuelein M., Bauer H., Bellanti J. A. Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber. N Engl J Med. 1972 Oct 19;287(16):787–791. doi: 10.1056/NEJM197210192871602. [DOI] [PubMed] [Google Scholar]
  13. Van Praagh R., Bernhard W. F., Rosenthal A., Parisi L. F., Fyler D. C. Interrupted aortic arch: surgical treatment. Am J Cardiol. 1971 Feb;27(2):200–211. doi: 10.1016/0002-9149(71)90259-1. [DOI] [PubMed] [Google Scholar]

Articles from British Heart Journal are provided here courtesy of BMJ Publishing Group

RESOURCES