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Table 5 Clinical and genetic characteristics of nonsyndromic 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 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
  1. 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
  2. aRelates to primary surgical intervention