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Genetic etiologies of valvular heart disease in humans
| Bicuspid aortic valve | |
| Syndromic | KCNJ2 |
| Nonsyndromic | NOTCH1, GATA5, SMAD6 |
| Myxomatous mitral valve | |
| Syndromic | FBN1, TGFBR1, TGFBR2, Collagen types I–III, V, XI |
| Nonsyndromic | Filamin A |
| Pulmonic valve stenosis | |
| Syndromic | PTPN11, RAF1, SOS1, KRAS |
| Nonsyndromic | GATA4 |
| Ebstein anomaly | |
| Nonsyndromic | MHY7 |
