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Interrupted right aortic arch in DiGeorge syndrome
P Moerman1, M Dumoulin, J Lauweryns
1Department of Pathology, Gasthuisberg University Hospital, Leuven, Belgium.
British Heart Journal
|September 1, 1987
Summary
Interrupted right aortic arch with a right descending aorta is strongly linked to DiGeorge syndrome (thymus and parathyroid issues). This association is more than coincidence, suggesting a common underlying cause for these rare conditions.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Congenital Abnormalities
Background:
- Interrupted aortic arch (IAA) is a rare congenital heart defect.
- DiGeorge syndrome involves thymus and parathyroid hypoplasia/aplasia.
- The association between IAA and DiGeorge syndrome requires further investigation.
Purpose of the Study:
- To describe clinical and necropsy findings in IAA associated with DiGeorge syndrome.
- To evaluate the frequency and significance of this concurrence.
- To raise clinical awareness of this association.
Main Methods:
- Case series analysis of four patients with interrupted right aortic arch and right descending aorta.
- Review of 185 necropsies of infants and children with congenital heart disease.
- Correlation of cardiovascular and genetic findings.
Main Results:
- All four patients presented with type B interrupted right aortic arch and right descending aorta.
- Associated cardiac defects included ventricular septal defects and bicuspid aortic valves.
- No cases of interrupted right aortic arch without DiGeorge syndrome were found in the necropsy series.
Conclusions:
- The concurrence of interrupted right aortic arch and DiGeorge syndrome is highly probable and likely not coincidental.
- Clinicians should suspect DiGeorge syndrome in patients with interrupted aortic arch, especially with a right descending aorta.
- This association highlights the importance of comprehensive evaluation in affected infants.