FIGURE 2
- ID
- ZDB-FIG-230319-36
- Publication
- Sheppard et al., 2023 - Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay
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Right vertebral artery atresia and cavernoma in a 55 year old male harboring a SMAD3 V244F variant. (A) Cinematic 3D reformatted images of the atretic < 2mm right vertebral artery. The origin of the right vertebral artery was sufficiently narrow in caliber that volume averaging resulted in below-threshold density required for visualization in the reformat. For best visualization of the vertebral arteries, the carotid arteries were digitally removed using syngo.via (Siemens, Erlangen). The dominant left vertebral artery measures 5 mm in diameter throughout most of its length, which is the upper limit of normal. (B) Sagittal T1-weighted FLAIR MRI of the brain at the midline shows a cavernous malformation in the left mid cingulate gyrus, just superior to the body of the corpus callosum. (C) Axial T2-weighted MRI with fat saturation demonstrates characteristic signal intensity of cavernous malformation with central hyperintensity, peripheral hypointensity, and susceptibility artifact. (D) Axial CTA demonstrating atretic < 2mm right vertebral artery. FLAIR is fluid-attenuated inversion recovery, MRI is magnetic resonance imaging. |