However, aortic insufficiency was also present in 62% of cases, highlighting its association with FTAAD. The most common genetic mutations identified were SMAD3, followed by ACTA2 and MYH11, with less frequent mutations including MYLK, FBN1, TGFBRI, TGFB1, and chromosomal 16p13.1 duplication. The gene discussed is MYLK; the disease is aortic valve insufficiency.