Table 1.
Syndrome | Gene(s) | Other features |
---|---|---|
Loeys-Dietz | TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3 | Bifid uvula HTAD |
Multisystemic Smooth Muscle Dysfunction | ACTA2 | Mydriasis HTAD |
Down | 21 duplication | Atrioventricular septal defects |
Turner | X monosomy | Short stature Coarctation of the aorta |
Velocardiofacial | 22q11.2 del | Truncus arteriosus Tetralogy of Fallot |
HTAD: hereditary thoracic aortic aneurysm and dissection.