SMAD3 and triple-A syndrome: Forty-seven variants were detected in 31 familial AAA (31 %) patients and 12 sporadic AAA (21 %) patients in COL3A1, EFEMP2, FBN1, MYH11, MYLK, TGBF2, TGFBR1, and TGFBR2, no variants were found in ACTA2 and SMAD3 (Table 2).