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Familial interruption of the aortic arch
J W Gobel1, M E Pierpont, J H Moller
1Department of Pediatrics, Ray and Hattie Anderson Center for the Study of Hereditary Cardiac Disease, Variety Club Children's Hospital, University of Minnesota, Minneapolis 55455.
Pediatric Cardiology
|March 1, 1993
Summary
This study reports interruption of the aortic arch type B with an anomalous right subclavian artery in siblings. This rare congenital heart defect may indicate a syndrome related to neural crest cell migration abnormalities.
Area of Science:
- Cardiology
- Developmental Biology
- Genetics
Background:
- Interruption of the aortic arch (IAA) is a rare congenital cardiac malformation, affecting 1.4% of affected individuals.
- Previous literature documents only two instances of IAA in siblings, specifically type B with an anomalous right subclavian artery.
- Congenital heart defects, including IAA type B, are increasingly linked to neural crest cell migration issues.
Observation:
- This report details a family with multiple affected members presenting with interruption of the aortic arch type B and an anomalous right subclavian artery.
- All affected individuals in this family also exhibited additional conotruncal cardiac malformations.
- The familial occurrence suggests a potential genetic or syndromic basis for these combined cardiac anomalies.
Findings:
- The observed pattern of interruption of the aortic arch type B, anomalous right subclavian artery, and conotruncal malformations in multiple family members is highly unusual.
- The presentation strongly supports the hypothesis linking conotruncal defects to neural crest cell migration abnormalities.
- This family may represent a previously undescribed syndrome associated with mesenchymal tissue or neural crest cell migration.
Implications:
- This case series expands the understanding of familial aggregation of complex congenital heart defects.
- It highlights the potential role of neural crest cell migration in the etiology of a broader spectrum of cardiac malformations than previously recognized.
- Further research into the genetic and developmental pathways involved could lead to improved diagnostic and therapeutic strategies for affected families.