A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke

ConclusionAlthough the relationship between NF-1 mutation and aortic arch branch abnormalities has not been described, there is a recognized condition known as neurofibromatosis/Noonan syndrome which is an accepted variant of NF-1 with clinical features of both NF-1 and Noonan syndrome caused by dysregulation of the RAS –MAPK pathway. Aortic arch branch variations in patients with NF-1 could be explained by this association.
Source: Surgical and Radiologic Anatomy - Category: Anatomy Source Type: research