Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease

Figures

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  Figure 1. Pedigree of the Patient The patient age and characteristics are indicated below. n.a. = no genomic assessment was performed.

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  Figure 2. Enhanced CT Scans Before and After Dissection in Patient III-3 (A) Follow-up enhanced computed tomography (CT) before dissection revealed a maximum ascending aortic diameter of 45 mm, for which surgical intervention was recommended. (B) At the onset of Stanford type A aortic dissection, the dissection extended from the aortic root to the abdominal aorta.

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  Figure 3. Sanger Sequencing on FBN1 Gene Genetic testing by Sanger sequencing in 2014 revealed an FBN1 mutation on exon 20 (c.2364T>G, p.Phe788Leu).

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  Figure 4. Genetic Findings and Array-CGH Analysis (A) Genetic findings of patient IV-4 using Integrative Genomics Viewer software. The read depth of SMAD3 exon 2-9 (red square) was approximately 0.5 times shallower than that of other parts of analyzed exons, suggesting copy number variation. (B) Array–comparative genome hybridization analysis revealed a deletion in the Chr15q22.33-q23 region (black arrowhead), encompassing approximately 510-560 kilobase pairs, including SMAD3.

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  Figure 5. Cerebral Magnetic Resonance Imaging of Proband (III-5) Multiple cerebral aneurysms were detected in the cavernous sinus segment of bilateral internal carotid artery (yellow arrows).