PMC5896231_01
DNA chromatogram demonstrating heterozygous c.5872T>A variant in FBN1.
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His diagnosis was further confirmed after undergoing FBN1 sequencing and deletion/duplication analysis, which detected a novel pathogenic variant in gene FBN1, denoted by c.5872 T>A (p.Cys1958Ser) (Figure 1).
MRI of the heart with and without intravenous gadolinium contrast administration.
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He underwent a MRI exam of the heart with and without intravenous gadolinium contrast administration (Figure 2) which showed mild bileaflet mitral valve prolapse and aortic root dilation (measuring 46 mm at the level of the sinuses of Valsalva).
CT angiogram MIP images showing bilateral popliteal aneurysms highlighted by red circles.
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However it showed bilateral popliteal artery aneurysms measuring 3.6 x 4 cm in the left side and 3 x 2.8 cm in the right side (Figure 3).