Table 3 Thoracic aortic aneurysm/dissection (TAAD) associated genes analyzed in the present case. Next-generation sequencing was performed for the following 16 genes; deletion/duplication analysis was completed in 12/16 genes per protocol by the commercial genetic testing laboratory (GeneDx, Gaithersburg, MD)
Gene | Analytical Methods | ||
|---|---|---|---|
Sequencing | Deletion/Duplication | ||
ACTA2 | Multisystem smooth muscle dysfunction syndrome | √ | √ |
CBS | Homocystinuria | √ | √ |
COL3A1 | Ehlers-Danlos syndrome type IV | √ | √ |
COL5A1 | Ehlers-Danlos syndrome type I | √ | √ |
FBN1 | Marfan syndrome | √ | √ |
FBN2 | Congenital contractural arachnodactyly | √ | √ |
FLNA | Ehlers-Danlos syndrome and periventricular nodular heterotopia, X-linked cardiac valvular dysplasia | √ | – |
MED12 | FG syndrome, Lujan syndrome, X-linked Ohdo syndrome | √ | – |
MYH11 | Patent ductus arteriosis | √ | √ |
SKI | Shprintzen-Goldberg syndrome | √ | – |
SLC2A10 | Arterial tortuosity syndrome | √ | √ |
SMAD3 | Loeys-Dietz syndrome | √ | √ |
TGFB2 | √ | – | |
TGFBR1 | √ | √ | |
TGFBR2 | √ | √ | |