Table 1.
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.
Study performed at University of Texas.
Mapped loci without identified gene.
No linkage to FBN1 or TAAD2.
Four probands not affected by aortic diseases (aortic aneurysm and/or dissections).
No linkage with ACTA2.
One proband not affected by aortic diseases (aortic aneurysm and/or dissection).
Data of 2 different screened families obtained from the same study.