Table 1 Chromosomal associations of double outlet right ventricle (see table 2 for key to abbreviations)
CaseDiagnosisSegmental typeCardiac anatomySignificant extracardiac findingsReference
1Trisomy 13IDORVMicrocephaly, CL/CP, microphthalmia, CFD, malrotation of gut, kyphoscoliosis, MR127
PS
2–3Trisomy 13UnkDORV45
4Trisomy 13IIDORVFetus (18 weeks), holoprosencephaly, CL/CP, retinal dysplasia, MD128
MA
AoV atresia
LSVC
5Trisomy 13 phenotypeIIDORVFetus (14 weeks), cystic hygroma, CL/CP, SUA128
MA
Absent AoV
Absent PV
LSVC
6Trisomy 13 phenotypeIIDORVFetus (21 weeks), cystic hygroma, SUA128
Absent AoV
Absent PV
7–9Trisomy 13IIDORVFetus (25, 30, 30 weeks)129
LV hypo
10Trisomy 13IIDORVOlfactory agenesis, CL/CP, malrotation of gut, polydactyly130
LV hypo
11Trisomy 18IIDORV131
MA
LV hypo
PS
12–13Trisomy 18IIDORV131
MA
LV hypo
14Trisomy 18IIDORVAccessory spleen131
ASD
MA
LV hypo
Bilat. PDA
15Trisomy 18IIDORVFetus (30 weeks)129
CAVC
16–19Trisomy 18UnkDORVFetus (25, 27, 29, 32 weeks)129
20Trisomy 18IIDORVFetus (31 weeks), IUGR, vascular mass of abdominal wall, horseshoe kidney, MD, SUA132
MA
AoV atresia
LV hypo
21Trisomy 18IIDORVFetus (22 weeks), malrotation of gut, Dandy–Walker malformation133
MA
LV hypo
PS
Absent CS
22–24Trisomy 18UnkDORV45
25Trisomy 18IIDORVCDH57
LSVC
26Trisomy 21IIDORV134
PS
27Trisomy 21UnkDORV36
28Trisomy 21IIDORV135
Bilat SVC
29Trisomy 21IDORV135
PS
30Trisomy 21IIDORV135
MV abnl
31Trisomy 21IIDORV135
MV abnl
3247, XYYIIDORVIleal atresia, volvulus130
LV hypo
TGA
MA
33Mosaic 8p tetrasomyIIDORVLimb reduction, intestinal malrotation136
ASD
MA
34–40Recombinant 8 rec 8, dup q, inv(8)(p23q22)UnkDORV137
41Duplication 8qUnkDORV137
42–43Deletion 8pUnkDORV137
44Deletion 8p del(8) (p23.1→pter)IIDORVCFD, micrognathia, fetal bradycardia, arrhythmias138
CAVC
LV hypo
PS
45Duplication 8p add (8)(p23; ?)IIDORVCFD, developmental delay25
MA
46Mosaic tetrasomy 8pIIDORVAgenesis corpus callosum, CFD, seizures, growth and developmental delays, skeletal abnl139
ASD
47Deletion 8p del (8) (p21.3→ pter)IIIDORVIUGR, microcephaly, hypospadias, growth and developmental delays140, 141
AVSD
L isomerism
RV hypo
PS
48Deletion 17p13IIDORVFetus (34 weeks), IUGR, malrotation of colon, hypoplastic thymus, absent parathyroid142
ASD
MA
LV hypo
PS
49Isochromosome 18qIIDORVFetus (29 weeks), alobar holoprosencephaly, microcephaly, CFD, micrognathia, joint contractures, hypoplastic thymus, absent parathyroid, MD, partial malrotation of gut, streak ovaries143
VSD (mult)
MV & TV dysplastic
LV & LA hypo
IAA
Dextrocardia
50–51Deletion 22q11IDORVCFD144
52Deletion 22q11IIDORVFetus (23 weeks), CFD, absent thymus, renal cysts, short humeri and femurs145
PS
LPA absent
Aberrant RSCA
53Deletion 22q11IIDORVCFD, VPI146
ASD
PS
54Deletion 22q11IIIDORVFetus (20 weeks), polysplenia, bowel malrotation, absent thymus, multicystic kidney147
CAVC
L isomerism
Interrupted IVC
55Deletion 22q11IDORVCFD, MR148
PS
56Deletion 22q11IDORVCFD, pulmonary HTN, MR148
PS
57Deletion 22q11IDORV47
R AoA
Isolated LPA
58Deletion 22q11IDORVCFD, absent thymus, seizures, T cell deficiency149
R AoA
PS
59Deletion 22q11IDORVCFD, vertebral fusion, growth delay150
PS
Dextrocardia
60Deletion 22q11IDORVCFD, growth delay150
PS
Major Ao-Pulm
collaterals
61Derivative 6 der (6) t(3;6) (q27;p21)IIDORVBilat microphthalmia and blepharophimosis, R choanal atresia, CFD, hydrocephalus151
VSD (mult)
ASD
  • See table 2 for footnotes.