FIGURE

FIGURE 1

ID

ZDB-FIG-230319-35

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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FIGURE 1

Cardiac, aortic, and coronary artery findings in a 55 year old male with the SMAD3 V244F variant. (A) Pedigree demonstrating sex and phenotype. Squares and circles represent males and females, respectively. TAA is red upper left quadrant. AAA is blue upper right quadrant. AF is green lower right quadrant. MVP is yellow lower left quadrant. (B) Aortic root aneurysm and Focal bilobed fusiform ectasia of the proximal RCA. Linear reformat of coronary CTA was created using TeraRecon (Durham, North Carolina). (C) Axial CTA demonstrating tortuosity and ectasia of the right coronary artery (RCA). (D) Infrarenal abdominal aortic aneurysm, 37 mm in maximum diameter. Mural hematoma in the right lateral aspect of the aneurysm is displayed in red. Cinematic 3D reformatted images of CTA abdomen and pelvis. Cinematic 3D were created using syngo.via (Siemens, Erlangen). (E) Calcification of the left coronary artery and its branches with 25-49% stenosis in the LAD. TAA is thoracic aorta aneurysm, AAA is abdominal aortic aneurysm, AF is atrial fibrillation, MVP is mitral valve prolapse 3D is 3-dimensional, CTA is computed tomographic angiography, RCA is right coronary artery, LAD is left anterior descending artery.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Front Cardiovasc Med