Skip to main content
Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Figure 2

Cardiovascular imaging. A- F : 64-slice cardiac CT images showing characteristic aneurysmal enlargement and tortuosity of aorta and arch branches. Note the narrow aortic isthmus (*) ( A,C, D, E), abdominal aortic stenosis ( D-F). AoAs – Ascending Aorta, AoDt- Descending Thoracic Aorta, AoAb – Abdominal Aorta.

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172