Case | Diagnosis | Segmental type | Cardiac anatomy | Significant extracardiac findings | Reference |
1 | Trisomy 13 | I | DORV | Microcephaly, CL/CP, microphthalmia, CFD, malrotation of gut, kyphoscoliosis, MR | 127 |
PS | |||||
2–3 | Trisomy 13 | Unk | DORV | 45 | |
4 | Trisomy 13 | II | DORV | Fetus (18 weeks), holoprosencephaly, CL/CP, retinal dysplasia, MD | 128 |
MA | |||||
AoV atresia | |||||
LSVC | |||||
5 | Trisomy 13 phenotype | II | DORV | Fetus (14 weeks), cystic hygroma, CL/CP, SUA | 128 |
MA | |||||
Absent AoV | |||||
Absent PV | |||||
LSVC | |||||
6 | Trisomy 13 phenotype | II | DORV | Fetus (21 weeks), cystic hygroma, SUA | 128 |
Absent AoV | |||||
Absent PV | |||||
7–9 | Trisomy 13 | II | DORV | Fetus (25, 30, 30 weeks) | 129 |
LV hypo | |||||
10 | Trisomy 13 | II | DORV | Olfactory agenesis, CL/CP, malrotation of gut, polydactyly | 130 |
LV hypo | |||||
11 | Trisomy 18 | II | DORV | 131 | |
MA | |||||
LV hypo | |||||
PS | |||||
12–13 | Trisomy 18 | II | DORV | 131 | |
MA | |||||
LV hypo | |||||
14 | Trisomy 18 | II | DORV | Accessory spleen | 131 |
ASD | |||||
MA | |||||
LV hypo | |||||
Bilat. PDA | |||||
15 | Trisomy 18 | II | DORV | Fetus (30 weeks) | 129 |
CAVC | |||||
16–19 | Trisomy 18 | Unk | DORV | Fetus (25, 27, 29, 32 weeks) | 129 |
20 | Trisomy 18 | II | DORV | Fetus (31 weeks), IUGR, vascular mass of abdominal wall, horseshoe kidney, MD, SUA | 132 |
MA | |||||
AoV atresia | |||||
LV hypo | |||||
21 | Trisomy 18 | II | DORV | Fetus (22 weeks), malrotation of gut, Dandy–Walker malformation | 133 |
MA | |||||
LV hypo | |||||
PS | |||||
Absent CS | |||||
22–24 | Trisomy 18 | Unk | DORV | 45 | |
25 | Trisomy 18 | II | DORV | CDH | 57 |
LSVC | |||||
26 | Trisomy 21 | II | DORV | 134 | |
PS | |||||
27 | Trisomy 21 | Unk | DORV | 36 | |
28 | Trisomy 21 | II | DORV | 135 | |
Bilat SVC | |||||
29 | Trisomy 21 | I | DORV | 135 | |
PS | |||||
30 | Trisomy 21 | II | DORV | 135 | |
MV abnl | |||||
31 | Trisomy 21 | II | DORV | 135 | |
MV abnl | |||||
32 | 47, XYY | II | DORV | Ileal atresia, volvulus | 130 |
LV hypo | |||||
TGA | |||||
MA | |||||
33 | Mosaic 8p tetrasomy | II | DORV | Limb reduction, intestinal malrotation | 136 |
ASD | |||||
MA | |||||
34–40 | Recombinant 8 rec 8, dup q, inv(8)(p23q22) | Unk | DORV | 137 | |
41 | Duplication 8q | Unk | DORV | 137 | |
42–43 | Deletion 8p | Unk | DORV | 137 | |
44 | Deletion 8p del(8) (p23.1→pter) | II | DORV | CFD, micrognathia, fetal bradycardia, arrhythmias | 138 |
CAVC | |||||
LV hypo | |||||
PS | |||||
45 | Duplication 8p add (8)(p23; ?) | II | DORV | CFD, developmental delay | 25 |
MA | |||||
46 | Mosaic tetrasomy 8p | II | DORV | Agenesis corpus callosum, CFD, seizures, growth and developmental delays, skeletal abnl | 139 |
ASD | |||||
47 | Deletion 8p del (8) (p21.3→ pter) | III | DORV | IUGR, microcephaly, hypospadias, growth and developmental delays | 140, 141 |
AVSD | |||||
L isomerism | |||||
RV hypo | |||||
PS | |||||
48 | Deletion 17p13 | II | DORV | Fetus (34 weeks), IUGR, malrotation of colon, hypoplastic thymus, absent parathyroid | 142 |
ASD | |||||
MA | |||||
LV hypo | |||||
PS | |||||
49 | Isochromosome 18q | II | DORV | Fetus (29 weeks), alobar holoprosencephaly, microcephaly, CFD, micrognathia, joint contractures, hypoplastic thymus, absent parathyroid, MD, partial malrotation of gut, streak ovaries | 143 |
VSD (mult) | |||||
MV & TV dysplastic | |||||
LV & LA hypo | |||||
IAA | |||||
Dextrocardia | |||||
50–51 | Deletion 22q11 | I | DORV | CFD | 144 |
52 | Deletion 22q11 | II | DORV | Fetus (23 weeks), CFD, absent thymus, renal cysts, short humeri and femurs | 145 |
PS | |||||
LPA absent | |||||
Aberrant RSCA | |||||
53 | Deletion 22q11 | II | DORV | CFD, VPI | 146 |
ASD | |||||
PS | |||||
54 | Deletion 22q11 | III | DORV | Fetus (20 weeks), polysplenia, bowel malrotation, absent thymus, multicystic kidney | 147 |
CAVC | |||||
L isomerism | |||||
Interrupted IVC | |||||
55 | Deletion 22q11 | I | DORV | CFD, MR | 148 |
PS | |||||
56 | Deletion 22q11 | I | DORV | CFD, pulmonary HTN, MR | 148 |
PS | |||||
57 | Deletion 22q11 | I | DORV | 47 | |
R AoA | |||||
Isolated LPA | |||||
58 | Deletion 22q11 | I | DORV | CFD, absent thymus, seizures, T cell deficiency | 149 |
R AoA | |||||
PS | |||||
59 | Deletion 22q11 | I | DORV | CFD, vertebral fusion, growth delay | 150 |
PS | |||||
Dextrocardia | |||||
60 | Deletion 22q11 | I | DORV | CFD, growth delay | 150 |
PS | |||||
Major Ao-Pulm | |||||
collaterals | |||||
61 | Derivative 6 der (6) t(3;6) (q27;p21) | II | DORV | Bilat microphthalmia and blepharophimosis, R choanal atresia, CFD, hydrocephalus | 151 |
VSD (mult) | |||||
ASD |
See table 2 for footnotes.