Table 2.
Abnormalities of Fontan Subjects Who Completed Array Comparative Genomic Hybridization Analysis
| Proband | Cardiac Diagnosis | Array Result | Size | Syndromic |
|---|---|---|---|---|
| Variant known to be pathogenic for congenital heart disease (7 probands, 11 variants) | ||||
| 1a | PA/IVS | 2p16.2‐p14 LOH | 12.6 Mb | Y |
| 1b | 5q14.1‐q22.1 LOH | 30.2 Mb | ||
| 1c | 12p13.1‐p12.1 LOH | 11.3 Mb | ||
| 1d | 13q12.13‐q13.3 LOH | 9.8 Mb | ||
| 2a | DILV | 4q35.1q35.2 del | 4.6 Mb | N |
| 2b | 4q35.1 dup | 509 kb | ||
| 3 | HLHS | 2q13 dup | 2.2 Mb | N |
| 4 | PA/IVS | 3q28 del | 313 kb | N |
| 5a | HLHS | 7q36.3 del | 2.4 Mb | N |
| 6a | Tricuspid atresia | 9q31.2 dup | 219 kb | Y |
| 7 | HLHS | 15q11.2 del | 257 kb | N |
| Variant known to be pathogenic for extracardiac disease (3 probands) | ||||
| 8 | Complex TGA | 15q13.2‐q13.3 dup | 1.5 Mb | N |
| 9a | Complex TGA | 16p11.2 del | 220 kb | Y |
| 10a | HLHS | 17p13.2 del | 76 kb | N |
| Benign variant (inherited, no family history of congenital heart disease; 17 probands) | ||||
| 11 | DORV | 2p16.3 dup | 75 kb | N |
| 12 | HLHS | 2p24.3 del | 210 kb | N |
| 5b | HLHS | 3p11.1 dup | 983 kb | N |
| 13 | Tricuspid atresia | 6q21 dup | 438 kb | Y |
| 14 | Heterotaxy syndrome | 8p22 dup | 249 kb | Y |
| 15 | PA/IVS | 8q24.21 dup | 274 kb | Y |
| 6b | Tricuspid atresia | 9q33.1 dup | 672 kb | Y |
| 16 | HLHS | 10q21.3 dup | 1.9 Mb | N |
| 17 | Tricuspid atresia | 10q24.2 del | 251 kb | N |
| 18 | DILV | 14q11.2 dup | 12 kb | N |
| 10b | HLHS | 15q15.3 del | 248 kb | N |
| 19 | HLHS | 15q21.2 dup | 308 kb | Y |
| 20 | Tricuspid atresia | 16p13.2 dup | 159 kb | N |
| 21 | HLHS | 16p13.3 del | 265 kb | N |
| 22 | HLHS | 20p11.23 dup | 453 kb | N |
| 22sib | HLHS | 20p11.23 dup | 453 kb | N |
| 23 | HLHS | Xp11.4 dup | 191 kb | N |
| 24 | HLHS | Xq21.1 dup | 105 kb | N |
| Variant of unknown significance (19 probands. 24 variants) | ||||
| 25a | DORV | 6q26 dup | 98 kb | Y |
| 25b | Yq11.21 dup | 126 kb | ||
| 25c | Yq11.21 dup | 290 kb | ||
| 26a | DORV | 1q21.3 dup | 728 kb | N |
| 26b | 11p11.2 del | 19 kb | ||
| 27a | Complex TGA | 2p22.1 dup | 361 kb | N |
| 27b | 7q36.3 dup | 323 kb | ||
| 28a | Heterotaxy syndrome | 11q14.1‐q14.2 del | 1.2 Mb | Y |
| 28b | 22q13.2 | 52 kb | ||
| 29 | Tricuspid atresia | 1q42.2 dup | 89 kb | N |
| 30 | Heterotaxy syndrome | 2q31.2 dup | 627 kb | Y |
| 31 | DORV | 3p21.31 dup | 251 kb | Y |
| 32 | Tricuspid atresia | 3p26.1 dup | 68 kb | N |
| 9b | Complex TGA | 4p15.2 del | 375 kb | Y |
| 33 | Mitral atresia | 6q24.3 del | 58 kb | N |
| 34 | HLHS | 7p14.1 dup | 271 kb | N |
| 35 | HLHS | 8q22.1 del | 412 kb | N |
| 36 | HLHS | 10q26.2 del | 127 kb | N |
| 37 | Heterotaxy syndrome | 15q23 dup | 276 kb | Y |
| 38 | Mitral atresia | 15q25.2 del | 105 kb | N |
| 39 | Tricuspid atresia | 18p11.31 dup | 421 kb | N |
| 40 | DILV | 18p11.32‐p11.31 del | 3.7 Mb | Y |
| 2c | DILV | 21q22.11 dup | 112 kb | N |
| 41 | Tricuspid atresia | Xp22.31 dup | 1.6 Mb | N |
DILV indicates double inlet left ventricle; DORV, double outlet right ventricle; HLHS, hypoplastic left heart syndrome; LOH, loss of heterozygosity; PA/IVS pulmonary atresia with intact ventricular septum; TGA, transposition of the great arteries.