Double Aortic Arch in a Patient with Neurofibromatosis Type 1: Expanding the Spectrum of Neurofibromatosis-Associated Vascular Anomalies.

Neurofibromatosis type 1 (NF1) is a common genetic disorder with well-documented multisystem manifestations, including vasculopathies. A double aortic arch is a rare congenital vascular ring anomaly. We present a 59-year-old man with asymptomatic double aortic arch in the setting of a heterozygous pathogenic variant in the NF1 gene (c.6820-1G>A) that was detected on genome sequencing. Considering the burgeoning evidence for NF1's link with vasculopathy, our findings invite consideration of whether NF1's role in vascular development could influence aortic arch patterning.