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. Author manuscript; available in PMC: 2016 Jun 1.
Published in final edited form as: Circ Cardiovasc Genet. 2015 Mar 10;8(3):457–464. doi: 10.1161/CIRCGENETICS.114.000943

Table 3.

Comparison of aortic disease presentation among individuals with FBN1, TGFBR2, and ACTA2 mutations.

Variable FBN1 TGFBR2 ACTA2
Number of individuals 243 71 277
Mean age 30±16 29±17 38±20
Number of probands 122 26 81
Percent of probands ascertained due to TAAD 36% 65% 84%
With aortic event* 74 (30%) 25 (35%) 132 (48%)
 Thoracic aortic dissection 31 (42%) 13 (52%) 116 (88%)
  Type A 23 (31%); 39±9 10 (40%); 38±12 71 (54%); 36±12
  Type B 8 (11%); 44±10 3 (12%); 34±6 28 (21%); 29±12
  Aneurysm repair 43 (58%); 39±13 12 (48%); 35±16 16 (12%); 33±18
Without aortic event 169 (70%) 46 (65%) 145 (52%)
 Ascending aortic aneurysm 135 (80%) 42 (91%) 25 (17%)
*

Frequency of aortic event or diagnosis and mean age ± standard deviation are provided.