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Familial interruption of the aortic arch

Pediatric Cardiology volume 14, pages 110–115 (1993)Cite this article

Summary

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.

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Affiliations

  1. Departments of Pediatrics and Pathology, The Ray and Hattie Anderson Center for the Study of Hereditary Cardiac Disease, Variety Club Children's Hospital, University of Minnesota, Minneapolis, Minnesota, USA

    Jennifer W. Gobel, Mary Ella M. Pierpont & James H. Moller

  2. the Minneapolis Children's Medical Center, Minneapolis, Minnesota, USA

    Amarjit Singh

  3. the Jesse E. Edwards Registry of Cardiovascular Disease, United Hospital, St. Paul, Minnesota, USA

    Jesse E. Edwards

Authors
  1. Jennifer W. Gobel
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  2. Mary Ella M. Pierpont
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  3. James H. Moller
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  4. Amarjit Singh
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  5. Jesse E. Edwards
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Gobel, J.W., Pierpont, M.E.M., Moller, J.H. et al. Familial interruption of the aortic arch. Pediatr Cardiol 14, 110–115 (1993). https://doi.org/10.1007/BF00796990

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Key Words

  • Interruption of the aortic arch
  • Conotruncal malformations
  • Familial cardiac anomaly