Table 5.
Clinical and genetic characteristics of nonsyndromic mutation carriers
| Family | Position on pedigree-status | Sex | Age | CVS involvement of the aorta | Aortic Root | Z-score | Extension | Age at surgery | Type of surgerya | Cardiovascular system-other | Gene | Protein |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TAAD026 | II:4-proband | F | 52 | AAD | Surgery | R, As, Ar, D, Ab | 46 | SC | TGFBR1 | p.Y282H | ||
| TAAD026 | I:1-father | M | 77 | TAA | 47 | 3.8 | R, As, Ar | NA | NA | CAD | TGFBR1 | p.Y282H |
| TAAD026 | III:6-son | M | 15 | N | 30 | 0.5 | NA | NA | TGFBR1 | p.Y282H | ||
| TAAD045 | II:1-proband | M | 47 | AAD | Surgery | R, As, Ar, D, Ab | 35 | SC | SMAD3 | p.I290F | ||
| TAAD045 | III:2-son | M | 21 | N | 37 | 1.6 | NA | NA | SMAD3 | p.I290F | ||
| TAAD111 | III:5-proband | M | 41 | AAD | Surgery | As, Ar, D, Ab | 29 | SC | ACTA2 | p.D27G | ||
| TAAD111 | IV:1-son | M | 19 | N | 31 | −0.1 | NA | NA | ACTA2 | p.D27G | ||
| TAAD076 | III:1-proband | F | 29 | AAD | 36 | 2.7 | R, Ad, Ab | 20 | SGI | ACTA2 | p.N117S | |
| TAAD076 | II:2-mother | F | 55 | N | 30 | 0.9 | NA | NA | ACTA2 | p.N117S | ||
| TAAD076 | II:3-mat uncle | M | 57 | N | 36 | NE | NA | NA | Stroke at 39 y, MI at 42y | ACTA2 | p.N117S | |
| TAAD024 | II:3-proband | F | 49 | TAA | Surgery | As, Ar | 43 | SC | BAV | MYH11 | p.R1758Q | |
| TAAD024 | III:1-daughter | F | 24 | N | 30 | 0.6 | NA | NA | MYH11 | p.R1758Q | ||
| TAAD103 | II:1-proband | M | 62 | TAA | Surgery | R, As, Ar onset | 59 | Y + AVR | BAV | MYH11 | p.E1840D | |
| TAAD097 | II:1-proband | M | 55 | AAD | Surgery | As, Ar, D, Ab | 40 | SC + A | COL3A1 | p.I1290T | ||
| TAAD097 | II:5-sister | F | 50 | TAA | 44 | 3.4 | R, As | COL3A1 | p.I1290T | |||
| TAAD097 | III:1-son | M | 33 | Borderline TAA | 42 | 2.0 | R | COL3A1 | p.I1290T | |||
| TAAD097 | III:4-daughter | F | 28 | N | 32 | 1.1 | COL3A1 | p.I1290T |
AAD acute aortic dissection, Ab abdominal aorta, Ar aortic arch, As ascending aorta, AVR aortic valve replacement, BAV bicuspid aortic valve, CAD coronary artery disease, CVS cardiovascular system, D thoracic descending aorta, F female, HT arterial hypertension, M male, MI myocardial infarction, N normal echocardiographic study, NA not applicable, NE not examined, R aortic root, SC supracoronary ascending aortic replacement, SC + A supracoronary and arch prosthesis, SGI stent graft implantation, TAA thoracic aortic aneurysm, Y Yacoub procedure
aRelates to primary surgical intervention