Table 4 Clinical and genetic characteristics of syndromic TAAD patients and related mutation carriers
Family | Position on pedigree-status | Sex | Age | Ectopia lentis | Systemic score | CVS-involvement of the aorta | Aortic root | Z-score | IA | Extension | Age at surgerya | Type of surgerya | CVS-other | Type of syndrome | Gene | Mutation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAAD032 | III:2-proband | F | 21 | 0 | 4 | TAA | 36 | 2.6 | 0 | R | NA | MFS | FBN1 | c.6740-2A > G | |||
TAAD032 | II:2-mother | F | 53 | 0 | 3 | TAA | 39 | 2.7 | 1 | R | NA | MFS | FBN1 | c.6740-2A > G | |||
TAAD001 | II:9-proband | F | 43 | 0 | 7 | AAD | 47 | 5.7 | 1 | R, As, Ar, D, Ab | 39 | SC + A | MFS | FBN1 | p.N2502X | ||
TAAD012 | II:6-proband | F | 32 | 1 | 2 | TAA | 50 | 7.6 | 0 | R | 32 | Dav | MFS | FBN1 | p.C1408F | ||
TAAD012 | II:5-twin sibling | F | 32 | 1 | 5 | TAA | 51 | 8.1 | 0 | R | 28 | Dav | MFS | FBN1 | p.C1408F | ||
TAAD080 | II:1-proband | M | 48 | 0 | NE | AAD | Surgery | 0 | R, As, Ar, D | 42 | AVR + SC | MFS | FBN1 | p.I2585T | |||
TAAD080 | I:1-father | M | 76 | 0 | 0 | AAA | 36 | 0.0 | 1 | No | 60 | ABBG | MFS | FBN1 | p.I2585T | ||
TAAD080 | II:4-sister | F | 48 | 0 | 0 | N | 33 | 0.8 | 0 | No | NA | MFS mutation carrier | FBN1 | p.I2585T | |||
TAAD080 | II:8-sister | F | 37 | 0 | 3 | N | 34 | 1.7 | 0 | No | NA | MFS mutation carrier | FBN1 | p.I2585T | |||
TAAD080 | III:8-niece | F | 16 | 0 | 2 | N | 30 | 0.8 | 1 | No | NA | Potential MFS | FBN1 | p.I2585T | |||
TAAD080 | III:3-daughter | F | 15 | 0 | 2 | N | 33 | 2.1 | 0 | R | NA | Potential MFS | FBN1 | p.I2585T | |||
TAAD017 | III:1-proband | M | 42 | 1 | 6 | TAA | 48 | 4.2 | 1 | R, As | NA | MFS | FBN1 | p.R1692del | |||
TAAD017 | II:1-father | M | 66 | 0 | 4 | N | 42 | 1.4 | 1 | R | NA | MFS mutation carrier | FBN1 | p.R1692del | |||
TAAD056 | II:4-proband | F | 61 | 0 | 2 | TAA | 57 | 9.2 | 3 | R, As, Ar | 58 | B | MFS | FBN1 | p.Y2639C | ||
TAAD056 | III:3-daughter | F | 28 | 0 | 5 | TAA | 44 | 4.8 | 0 | R | NA | MFS | FBN1 | p.Y2639C | |||
TAAD038 | III:2-proband | M | 22 | 0 | 5 | TAA | 41 | 3.2 | 0 | R | NA | MVP, MR 2+ | MFS | FBN1 | p.G744E | ||
TAAD038 | II:3-father | M | 48 | 0 | 3 | TAA | 43 | 2.4 | 0 | R | NA | MVP, MR 1+ | MFS | FBN1 | p.G744E | ||
TAAD153 | II:2-proband | F | 48 | 0 | 1 | TAA | 46 | 5.7 | 3 | R, As, Ar | 48 | B | MFS | FBN1 | p.V984I | ||
TAAD153 | I:3-mother | F | 72 | 0 | 5 | N | 35 | 1.2 | 1 | No | NA | MFS mutation carrier | FBN1 | p.V984I | |||
TAAD153 | IV:1-son | M | 22 | 0 | 0 | N | 32 | −0.4 | 0 | No | NA | MFS mutation carrier | FBN1 | p.V984I | |||
TAAD153 | IV:2-son | M | 21 | 0 | 0 | N | 29 | −1.2 | 0 | No | NA | MFS mutation carrier | FBN1 | p.V984I | |||
TAAD108 | proband | M | 18 | 0 | 10 | TAA | Surgery | 1 | R | 19 | B | MFS | Not found | NA | |||
TAAD118 | III:7-proband | M | 26 | 0 | 8 | TAA | Surgery | 0 | R, As | 18 | D | LDS | TGFBR1 | p.A202 V | |||
TAAD048 | III:4-proband | F | 42 | 0 | 0 | AAD | Surgery | 1 | R, As, Ar, D, Ab | 40 | SC | LDS | TGFBR2 | p.A527T | |||
TAAD048 | III:1 - brother | M | 43 | 0 | 4 | N | 36 | 0.7 | 0 | no | NA | LDS mutation carrier | TGFBR2 | p.A527T | |||
TAAD048 | IV:3-daughter | F | 19 | 0 | 7 | Borderline TAA | 36 | 2.8 | 0 | R | NA | LDS | TGFBR2 | p.A527T | |||
TAAD048 | IV:4-son | M | 16 | 0 | 7 | Borderline TAA | 38 | 2.7 | 0 | R | NA | LDS | TGFBR2 | p.A527T | |||
TAAD146 | II:1-proband | M | 26 | 0 | 10 | TAA | 49 | 5.6 | 1 | R | NA | MVP, MR 2+ | SGS | SKI | p.T20 K | ||