Pediatric Cardiology

, Volume 14, Issue 2, pp 110–115 | Cite as

Familial interruption of the aortic arch

  • Jennifer W. Gobel
  • Mary Ella M. Pierpont
  • James H. Moller
  • Amarjit Singh
  • Jesse E. Edwards
Case Reports


Interruption of the aortic arch (IAA) is an important congenital cardiac malformation occurring in 1.4% of cases with a congenital cardiac malformation. Only two reports have described IAA in siblings, each with type B and an anomalous right subclavian artery. We report the occurrence of IAA type B with an anomalous right subclavian artery in two siblings and their half-sibling, each of whom had additional conotruncal cardiac malformations. Recent evidence suggests that conotruncal cardiac malformations, including IAA type B, are related to abnormalities of neural crest cell migration. Thus, the family reported herein may manifest a syndrome related to alterations in mesenchymal tissue/neural crest cell migration.

Key Words

Interruption of the aortic arch Conotruncal malformations Familial cardiac anomaly 


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Copyright information

© Springer-Verlag New York Inc. 1993

Authors and Affiliations

  • Jennifer W. Gobel
    • 1
  • Mary Ella M. Pierpont
    • 1
  • James H. Moller
    • 1
  • Amarjit Singh
    • 2
  • Jesse E. Edwards
    • 3
  1. 1.Departments of Pediatrics and Pathology, The Ray and Hattie Anderson Center for the Study of Hereditary Cardiac DiseaseVariety Club Children's Hospital, University of MinnesotaMinneapolisUSA
  2. 2.the Minneapolis Children's Medical CenterMinneapolisUSA
  3. 3.the Jesse E. Edwards Registry of Cardiovascular DiseaseUnited HospitalSt. PaulUSA

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