Ann Intern Med Clin Cases. 2026 Jan;5(1):e250735. doi: 10.7326/aimcc.2025.0735. Epub 2026 Jan 6.
ABSTRACT
Roundabout guidance receptor 4 (ROBO4) germline variants [including c.695C>T (p.Thr232Met)] have been linked with bicuspid aortic valve and thoracic aortic aneurysm. However, the precise nature of ROBO4's role in aortopathy is yet to be fully defined. We studied a 64-year-old woman with a history of surgically corrected congenital aortic coarctation in childhood, bicuspid aortic valve, and mild mitral regurgitation. She had genome sequencing, which revealed a heterozygous germline ROBO4 variant [c.695C>T (p.Thr232Met)]. Our findings suggest that the spectrum of aortic abnormalities that are associated with ROBO4 germline variants may include congenital coarctation of the aorta.
PMID:41613935 | PMC:PMC12851620 | DOI:10.7326/aimcc.2025.0735