Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant

Mohammad Karam Chaaban; George Bcharah; Bukola A. Olarewaju; Linnea M. Baudhuin; Fadi Shamoun; Mayowa A. Osundiji

doi:10.7326/aimcc.2025.0735

Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant

Mohammad Karam Chaaban
, George Bcharah
, Bukola A. Olarewaju
, Linnea M. Baudhuin
, Fadi Shamoun
, Mayowa A. Osundiji (Lead / Corresponding author)

Civil Engineering

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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.

Original language	English
Article number	e250735
Journal	Annals of Internal Medicine Clinical Cases
Volume	5
Issue number	1
DOIs	https://doi.org/10.7326/aimcc.2025.0735
Publication status	Published - 6 Jan 2026

Keywords

Aorta
Coarctation
Germline mutation
ROBO4
Vascular diseases

ASJC Scopus subject areas

Internal Medicine
Cardiology and Cardiovascular Medicine
Clinical Biochemistry

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Cite this

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title = "Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant",

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{\textquoteright}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.",

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AU - Chaaban, Mohammad Karam

AU - Bcharah, George

AU - Olarewaju, Bukola A.

AU - Baudhuin, Linnea M.

AU - Shamoun, Fadi

AU - Osundiji, Mayowa A.

PY - 2026/1/6

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N2 - 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.

AB - 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.

KW - Aorta

KW - Coarctation

KW - Germline mutation

KW - ROBO4

KW - Vascular diseases

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Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant

Abstract

Keywords

ASJC Scopus subject areas

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