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. 2018 Jul 31;7(15):e009302. doi: 10.1161/JAHA.118.009302

Table 1.

Details of Studies Included in the Systematic Review

Study (Author/Y) Country NS‐TAD Form Pedigree (Patients) Relatives Affected Penetrance, % Inheritance (Modality) Type of Screening Related Gene
Total, No. FDRs, No. SDRs, No. TDRs, No. Probands, No. No. %
Barbier et al 201422 France FTAAD 40 14 14 0 2 7 18 60 AD GEN+IMAG MFAP5
Bee et al 201223 United States FTAA 54 37 3 0 9 12 22 100 ··· GEN ACTA2, MYH11, TGFBR2
Chamney et al 201524 United Kingdom FTAAD 14 8 3 0 1 5 36 100 AD GEN+IMAG ACTA2
Disabella et al 201125 Italy FTAAD 37 23 5 4 5 10 27 78 AD GEN+IMAG ACTA2
Disertori et al 199126 Italy FTAAD 30 13 15 0 2 2 7 na ··· IMAG ···
Dong et al 201427 China FTAAD 64 5 9 30 1 8 13 64 ··· GEN+IMAG TGFBR1
Francke et al 199528 United States FTAAD 26 15 9 0 1 9 35 67 AD GEN+IMAG FBN1
Gago‐Diaz et al 201429 Spain FTAAD 31 3 10 13 1 6 19 60 AD GEN TGFB2
Gago‐Diaz et al 201630 Spain FTAAD 30 12 14 3 1 10 33 88 AD GEN PRKG1
Guo et al 200131 United Statesa FTAAD 219 n/c n/c n/c n/a n/c n/c n/a AD GEN Locus 5q13‐14b
Guo et al 200732 United Statesa FTAAD 212 n/c n/c n/c n/a n/c n/c 48 AD GEN ACTA2
Guo et al 200933 United Statesa FTAAD 269 n/c n/c n/c n/a n/c n/c 49 AD GEN ACTA2
Guo et al 201134 United Statesa FTAAD/pAA 28 7 9 6 1 8 29 75 AD GEN Locus 12q13‐14b
Guo et al 201335 United Statesa FTAAD 89 40 18 12 6 31 35 100 AD GEN PRKG1
Guo et al 201536 United Statesa BAV/TAA 48 10 14 15 1 7 15 44 AD GEN MATA2
Guo et al 201637 United Statesa FTAAD 65 21 22 13 6 15 23 86 AD GEN LOX
Hannuksela et al 201538 Sweden FTAAD 270 60 89 55 7 37 14 n/a ··· GEN+IMAG ···
Hannuksela et al 201639 Sweden FTAAD 46 n/c n/c n/c 1 n/c n/c 45 ··· GEN+IMAG MYLK
Harakalova et al 201340 Holland TAAD/PDA 75 6 15 34 2 13 17 45 AD GEN MYH11
Hasham et al 200341 United Statesa FTAAD 69 4 5 39 1 16 23 75 AD GEN+IMAG TGFBR2
Kakko et al 200342 Finland FTAAD 213 n/c n/c n/c n/a n/c n/c n/a ··· GEN+IMAG Locus 5q13‐14b
Kent et al 201343 United States BAV/TAA 129 73 21 19 14 34 26 n/a AD GEN+IMAG NOTCH1
Keramati et al 201044 United States FTAAD 23 10 8 0 1 12 52 90 AD GEN+IMAG Locus 15q21 (FBN1?)
Khau Van Kien et al 200445 France FTAAD/PDA 68 13 21 24 1 7 10 n/a AD GEN+IMAG ···
Khau Van Kien et al 200546 France FTAAD/PDA 87 13 26 38 1 7 8 50 AD GEN+IMAG MYH11
Kuang et al 201647 United Statesa FTAAD 40 n/c n/c n/c n/a n/c n/c 75 AD GEN FOXE3
Loscalzo et al 200748 United States BAV/TAA 194 72 37 65 13 44 23 88 AD GEN+IMAG ···
Marwick et al 198749 Australia FTADiss 17 7 5 0 1 1 6 n/a ··· IMAG ···
McManus et al 198750 United States FTADiss 19 7 9 0 1 5 26 n/a ··· IMAG ···
Milewicz et al 199851 United Statesa FTAAD 123 44 44 7 6 24 20 n/a AD GEN+IMAG ···c
Morisaki et al 200952 Japan FTAAD 47 10 6 27 3 11 23 100 ··· GEN ACTA2
Pannu et al 200553 United Statesa FTAAD 235 18 35 121 4 54 23 79 AD GEN+IMAG TGFBR2
Pannu et al 200754 United Statesa FTAAD 27 16 4 0 2 4 15 45 ··· GEN+IMAG MYH11
Regalado et al 201155 United Statesa FTAAD/ICA 231 83 64 50 13d 43 19 n/a AD GEN ACTA2, TGFBR1, TGFBR2
Regalado et al 201156 United Statesa FTAAD/ICA/pAA 106 n/c n/c n/c n/a n/c n/c 65 AD GEN SMAD3
Regalado et al 201157 United Statesa FTAAD 29 18 6 0 5 10 34 n/a ··· GEN FBN1
Renard et al 201358 Belgium FTAAD 97 34 30 7 8 21 22 n/a AD GEN ACTA2, MYH11
Robertson et al 201659 Australia FTAAD n/c n/c n/c n/c 270 341 56 n/a ··· IMAG ···
Sherrah et al 201660 Australia FTAAD n/c n/c n/c n/c n/a n/c n/c n/a ··· IMAG ···
Takeda et al 201561 Japan FTAAD 17 5 6 2 1 4 24 75 ··· GEN MYH11
Teixidó‐Turà et al 201462 Spain FTAAD 36 8 5 15 1 2 6 10 ··· GEN ACTA2
Tortora et al 201763 Italy BAV/TAA 97 77 0 0 20 5 7 n/a ··· GEN+IMAG ···e
Tran‐Fadulo et al 200664 United Statesa FTAAD 153 14 45 63 3 18 12 n/a ··· GEN ···
Tran‐Fadulo et al 200965 United Statesa FTAAD 78 31 23 7 4f 26 33 70 AD GEN TGFBR1
Vaughan et al 200166 United Statesa FTAA 67 27 20 2 3 27 40 n/a AD GEN+IMAG Locus 11q23.3‐24b
Wang et al 201067 United Statesa FTADiss 48 n/c n/c n/c n/a n/c n/c 50 AD GEN MYLK
Wang et al 201368 China FTAAD 10 7 0 0 1 1 10 n/a ··· GEN ···
Ware et al 201469 United States FTAAD 7 4 0 0 2 0 0 100 ··· GEN ACTA2
Warnes et al 198570 United States FTAAD 6 4 0 0 2 0 0 n/a ··· IMAG ···
Weigang et al 200771 Germany FTAAD 26 n/c n/c n/c n/a n/c n/c n/a AD GEN+IMAG ···
Yoo et al 201072 Korea FTAAD 20 7 7 0 1 4 20 67 AD GEN ACTA2
Zhu et al 200673 France FTAAD/PDA 49 n/c n/c n/c n/a n/c n/c 44 AD GEN+IMAG MYH11
Ziganshin et al 201574, g United States FTAAD 27 7 11 2 1 3 11 70 AD GEN MYLK
Ziganshin et al 201574, g United States FTAAD 17 6 8 0 1 6 35 70 ··· GEN TGFBR1

AD indicates autosomal dominant; BAV, bicuspid aortic valve; FDRs, first‐degree relatives; FTAA, familial thoracic aortic aneurysm; FTADiss, familial aortic dissection; FTAAD, familial thoracic aortic aneurysm and dissection; GEN, genetic; ICA, intracranial aneurysm; IMAG, imaging; n/a, not available; NS‐TAD, nonsyndromic thoracic aortic disease; n/c, not computable; pAA, peripheral artery aneurysm; PDA, patent ductus arteriosus; SDRs, second‐degree relatives; TAA, thoracic aortic aneurysm; TAAD, thoracic aortic aneurysm and/or dissection; TDRs, third‐degree relatives.

a

Study performed at University of Texas.

b

Mapped loci without identified gene.

c

No linkage to FBN1 or TAAD2.

d

Four probands not affected by aortic diseases (aortic aneurysm and/or dissections).

e

No linkage with ACTA2.

f

One proband not affected by aortic diseases (aortic aneurysm and/or dissection).

g

Data of 2 different screened families obtained from the same study.