Familial interruption of the aortic arch

Pediatric Cardiology
J W GobelJ E Edwards

Abstract

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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Citations

Feb 8, 2000·Teratology·H M SolomonD F Rumberger
Feb 1, 1996·Acta Paediatrica Japonica; Overseas Edition·T Nakada, S Yonesaka
Apr 12, 2017·Birth Defects Research·Hongbo M XieElizabeth Goldmuntz
Nov 27, 2020·American Journal of Medical Genetics. Part a·Elizabeth I PierpontWilliam B Dobyns
Jan 26, 2005·American Journal of Medical Genetics. Part a·M Cristina DigilioBruno Dallapiccola

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