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Table 4 Clinical and genetic characteristics of syndromic TAAD patients and related mutation carriers

From: Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

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
  1. AAA abdominal aortic aneurysm, AAD acute aortic dissection, Ab abdominal aorta, ABBG aorto–bifemoral bypass grafting, Ar aortic arch, AVR aortic valve replacement, B Bentall procedure, CVS cardiovascular system, Dav David procedure, D thoracic descending aorta, F female, LDS Loyes-Dietz syndrome, M male, MR mitral regurgitation (0 none, 1 mild, 2 moderate, 3 severe), MFS Marfan syndrome, N normal echocardiographic study, NA not applicable, NE not examined, R aortic root, SC supracoronary ascending aortic replacement, SC + A supracoronary and arch prosthesis, SGS Shprintzen–Goldberg syndrome, TAA thoracic aortic aneurysm
  2. aRelates to primary surgical intervention