Congenital Coarctation of the Aorta in a Patient With <i>ROBO4</i> c.695C>T (p.Thr232Met) Germline Variant
Roundabout guidance receptor 4 (<i>ROBO4</i>) germline variants [including c.695C>T (p.Thr232Met)] have been linked with bicuspid aortic valve and thoracic aortic aneurysm. However, the precise nature of <i>ROBO4</i>'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 <i>ROBO4</i> variant [c.695C>T (p.Thr232Met)]. Our findings suggest that the spectrum of aortic abnormalities that are associated with <i>ROBO4</i> germline variants may include congenital coarctation of the aorta.
Authors
- Mayowa A. Osundiji (ORCID: https://orcid.org/0000-0001-6658-3964)
- George Bcharah (ORCID: https://orcid.org/0009-0009-9296-2824)
- Fadi Elias Shamoun (ORCID: https://orcid.org/0000-0003-3890-7129)
- Linnea M. Baudhuin (ORCID: https://orcid.org/0000-0003-4230-5032)
- Bukola A. Olarewaju
- Mohammad Karam Chaaban
Institutions
- Mayo Clinic (US)
- University of Dundee (GB)
- Arizona Research Center (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic Hospital (US)
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- Annals of Internal Medicine Clinical Cases
- Published
- 2026-01-01
- DOI
- https://doi.org/10.7326/aimcc.2025.0735
- Primary Topic
- Congenital Heart Disease Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00