|Genetic Syndrome||Common Clinical Features||Genetic Defect||Diagnostic Test||Comments on Aortic Disease|
|Marfan syndrome||Skeletal features (see text)||FBN1 mutations*||Ghent diagnostic criteria||Surgical repair when the aorta reaches 5.0 cm unless there is a family history of AoD at <5.0 cm, a rapidly expanding aneurysm or presence or significant aortic valve regurgitation|
|Ectopia lentis||DNA for sequencing|
|Loeys-Dietz syndrome||Bifid uvula or cleft palate||TGFBR2 or TGFBR1 mutations||DNA for sequencing||Surgical repair recommended at an aortic diameter of ≥4.2 cm by TEE (internal diameter) or 4.4 to ≥4.6 cm by CT and/or MR (external diameter)|
|Skeletal features similar to MFS|
|Aneurysms and dissections of other arteries|
|Ehlers-Danlos syndrome, vascular form||Thin, translucent skin||COL3A1 mutations||DNA for sequencing||Surgical repair is complicated by friable tissues Noninvasive imaging recommended|
|Gastrointestinal rupture||Dermal fibroblasts for analysis of type III collagen|
|Rupture of the gravid uterus|
|Rupture of medium-sized to large arteries|
|Turner syndrome||Short stature||45,X karyotype||Blood (cells) for karyotype analysis||AoD risk is increased in patients with bicuspid aortic valve, aortic coarctation, hypertension, or pregnancy|
|Bicuspid aortic valve|
|Webbed neck, low-set ears, low hairline, broad chest|
AoD indicates aortic dissection; COL3A1, type III collagen; CT, computed tomographic imaging; FBN1, fibrillin 1; MFS, Marfan syndrome; MR, magnetic resonance imaging; TEE, transesophageal echocardiogram; TGFBR1, transforming growth factor-beta receptor type I; and TGFBR2, transforming growth factor-beta receptor type II.
↵* The defective gene at a second locus for MFS is TGFBR2 but the clinical phenotype as MFS is debated.