Table 1.
Genes and Syndromes associated with BAV.
| GENES | CARDIAC DEFECT/ASSOCIATED SYNDROM |
|---|---|
| 5q, 9q34, 13q, 15q25, 1-26, 18q | BAV |
| GATA5/GATA4 | BAV |
| NOS3 | BAV |
| PDIA2 | BAV |
| AXIN1 | BAV |
| NKX2.5 | BAV |
| EGFR | BAV |
| ENG | BAV |
| TEX26 | BAV |
| SMAD6 | BAV |
| NOTCH1 | BAV + Severe aortic calcifications |
| FGF8 | BAV + Coronary, aortic/pulmonary artery |
| UFD1L | BAV + Aortic aneurisms |
| HOXA1 | BAV + Bosley-Salih-Alorainy syndrome Athabaskan brainstem dysgenesis syndrome |
| FNB1 | BAV + Marfan syndrome |
| ELN | BAV + Cutis laxa |
| ACTA2 | BAV + Familial TAA |
| TGFb1/TGFb2 | Loeys-Dietz syndrom + sporadic BAV |
| FLNB | BAV + Larsen syndrom |
| KMT2D, KDM6A | BAV + Kabuki syndrom |
| KCNJ2 | BAV + Andersen-Tawil |
| 22q11.2 deletion | BAV + DiGeorge |
| 45 X0 karyotype | BAV + Turner syndrome |
| COL3A1 | BAV + Vascular Ehlers Danlos syndrome |
| LIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 | BAV + William Beuren syndrome |
BAV, Bicuspid aortic valve; TAA, Thoracic aortic aneurism.