. Author manuscript; available in PMC: 2021 Jul 1.

Published in final edited form as: Prog Cardiovasc Dis. 2020 Jun 27;63(4):398–406. doi: 10.1016/j.pcad.2020.06.005

Table 1.

Syndromes with BAV

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.