CHDGKB: CHD Genetics Knowledgebase
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CHD Type
• isolated CHD
CoA
CoA/AS/AVSD/DORV/D-TGA/PDA/PS/ASD/TOF/VSD/SV
AAO/PO
AC
AC/PDA/CAF
ALCAPA
ALCAPA/AAH/AS/AVC/DORV/EA/HLHS/PA/Shone's Complex/TAPVR/TGV/TOF/TA
Anomalies of venous return
AP window
APVR
AS
AS/ CoA/AV/ASD/PS/EA/TOF/TGA/other
AS/ CoA/BAV/VSD/IAA/HLHS
AS/ CoA/VSD/PDA/AVC
AS/AC/TOF/EA/AVSD/ccTGA/CHD with PAH/FUVH
AS/ASD/TOF
AS/VSD/RVOTO/TOF/ASD/VSD
ASD
ASD, AV block
ASD, VSD/AS, BAV/TOF, PS/AVCD/ECD/EA/other
ASD/PDA/VSD
ASD/TAPVD
ASD/TGA
ASD/TOF/VSD/UV/TGA/BAV
ASD/VSD
ASD/VSD/AS/ CoA/TGA/TOF/SVP/other
ASD/VSD/ASD, VSD
ASD/VSD/AVSD/AC/AS/EA/PS/PDA/TOF
ASD/VSD/AVSD/APVR/PS/AVS/BAV/AC/EA/TOF/TGA/other
ASD/VSD/other
ASD/VSD/PDA
ASD/VSD/PDA/AVSD/TOF/TGA/DORV/PA/TA/HLHS/SV/TA/APVR/ CoA/TAA/PS/AS
ASD/VSD/PDA/BAV/TOF/PS/AVSD/TGA/EA/other
ASD/VSD/PDA/CAVSD
ASD/VSD/PDA/ES/PAH
ASD/VSD/PDA/other
ASD/VSD/PDA/PS/TOF/AS
ASD/VSD/PDA/PVS/AVS/ CoA/PAS
ASD/VSD/PDA/SVAS/SAS/ CoA/EA
ASD/VSD/PDA/TOF/CVI/MVP
ASD/VSD/PDA/TOF/other
ASD/VSD/PDA/TOF/PVS
ASD/VSD/PTA
ASD/VSD/TGA/DILV/TA/TOF/PS/TA/EA
ASD/VSD/TGA/PS
ASD/VSD/TOF
ASD/VSD/TOF/other
ASD/VSD/TOF/PDA/ CoA/other
ASD/VSD/TOF/TAPVC/ECD/D-TGA
ASDII
ASDII, AV block
ASDII, AV block II
asymm TAV
AV block
AV/ASD/ccTGA/ CoA/EA/PA/PDA/PS/TGA/TOF/UVH/VSD
AVC
AVC/TA/TOF/HLHS/MS/AC, VSD/UVH, AAH
AVD
AVD/PV/ASD/VSD/Ductus/other SAS/SVAS/ CoA/Subvalvular or supravalvula PS/TOF/EA/AVSD/Sinus venosus SD/D-TGA/L-TGA/PA/SV/DORV/ES/TA/TAS
AVI
AVS
AVSD
AVSD/ASD/VSD/EA/CMV
AVSD/ccTGA
AVSD/TOF/VSD
BAV
BiV dd-PBF
BSVC
C-CHD
C-CHD/1V/2V-RV/2V-LV
C-CHD/ECD/LSL/RSL/PDA/VSD/ASD
CACA
CAT
CAVC
CBPS
ccTGA
CHD with PAH
CHD with PAH/EA
Complex anomalies of atrioventricular connections
CRHD/ccTGA/D-TGA/SV/EIS/C-CHD
cVSD
D-TGA
D-TGA/BAV/TOF/ CoA/NA/AVSD/AS/VSD
D-TGA/VSD/CHD with PAH
DCM/Cortriatriatum/DORV/HLHS/AVCD/ CoA/TOF/TGA/Shone's Complex
DCRV
DIVM
DOA
DORV
DORV/TGA/AVSD/TOF/HLHS/SV/TAPVR/TS
EA
ECD
ES/TGA/TOF/Left-sided outflow lesions/ASD/VSD/AVSD/Cyanotic non-ES/EA/other
FSV
FUH
GVT/TOF/ASD/SV/VSD/AVSD/EA/other
HAA
HLHS
HLHS/AS/TOF/PA/AI/DCRV/VSD/ASD/AVSD/PFO/TA/SV/DORV/DOLV
HLHS/AVCD/VSD/ CoA/SASD/DORV/TOF/AS/PASD/TA
HLHS/IAA/TGA/TOF/other
HLHS/other
HLHS/SV
HLHS/TA/HRV/other/PS/ CoA/TOF/IAA/PA/TGA/TA/AVS/EA/DORV
HLHS/TGA/ CoA/DILV/TOF/DORV/TA
HLHS/TGA/ CoA/IAA/PA/TOF/TA/AAH/SV
HLHS/TGA/SV/VSD/TOF/AVSD
HLHS/TGA/TOF
HLHS/TOF/DORV/TGV/EA/VSD/PS/ CoA/ASD
HLHS/TOF/TGA
HLHS/VSD/TOF/AVSD
HRH/HLHS/AVSD/VSD/ASD/TAC/TGA/DORV/TOF/ CoA/ALVS/other
HRHS/HLHS/other
HTX
IAA
IAVD
IAVD/non-complex CHD
Iliofemoral vein occlusion
L-TGA
LC-RV fistula
LQT1
LQT2
LS-CHD
LSL
LVH
LVNC
LVOT
LVOTO
LVOTO/ASD/VSD/ CoA/TOF/D-TGA/DORV/AVSD/ccTGA/PA/SV/ES/EA
LVOTO/ASD/VSD/AVSD/TGA/TOF/other
MI
MI, TI
MOT
MVA
NA
NA/LSOD/SD/PDA/other
Non-complex defects
non-CTD
OL
other
PA
PA, VSD/DORV, CoA/TOF/VSD, ASDII/AVSD, HF
PA/ccTGA/VSD/NA/SV/ES/PAH/ CoA/EA/TGA/TOF/ASD/AVSD/TA/PS/AVD
PA/PS/HLHS/IAA/HRV/TA/TOF/EA/DORV/SV/TGA/TA/VSD/other
PA/TGA/DORV/SV/TOF/TA
PA/VSD
PA/VSD/ASD/TA/AVSD/TAPVC/other
PA/VSD/PDA
PAD
PAPVC
PDA
PDA/ASD/PV/PAS/TGA/ CoA/PFO/AVS/PA/TOF/DORV/UVH/VSD/other
PDA/ASD/VSD
PDA/TAPVD
PDA/VSD/DORV/ASD/p-AVSD/PAPVR
PFO
PLSVC
Pm VSD
PPHT
PS
PS/ASD
PTA
PVS
RAA
RLBV
RVOTO
SA/SV
SAS
SD
SD/PDA/other
Septation defects
Shone's Complex
SV
SV dd-SBF/BiV dd-SBF/D-TGA/BiV dd-PBF/SV dd-PBF/SV/TA/other
SVAS
TA
TAPVC
TAPVC/TGA/VSD/HLHS/TA/AVC
TAPVD
TAPVR
TGA
TGA/ CoA/IAA/AS
TGA/HLHS/TOF/other
TGA/SV
TGA/SV/AC/PA/TOF/TA/TAPVC
TGA/TOF/PA/DILV/TAPVC/TA/TA/AVSD/AS/PS/AC/other
TGA/TOF/SD/UV
TGA/TOF/VSD/DORV/ECD/PV/TA/EA/HLHS/ CoA/IAA/other
TGA/VSD/ASD/PS
TGA/VSD/ASD/TOF/other
TGA/VSD/TOF/AVSD
TGV
TOF
TOF, VSD, PS
TOF/ASD/VSD
TOF/AVC/CAT/HLHS/ CoA, IAA/MR, AOR/PA/TAPVC/TGA/VSD/ASD/other
TOF/AVSD/D-TGA/TA/PA/MA/PS/AS/ CoA/VSD/ASD/PDA/EA/other
TOF/AVSD/HLHS/UVH
TOF/CAVC/TGA/VSD/TAPVR/ASD
TOF/Complete AVCD/PS/PA
TOF/DORV/PTA/TGA/AVSD
TOF/DORV/PTA/TGA/AVSD(combined with collateral vessel)
TOF/EA/ASD/L-TGA/D-TGA/PS/other
TOF/EA/PAPVC/L-TGA/AS/ASD/Shone's Complex/ACA/D-TGA/DCRV/PA, IVS/AVC/SAM/AR/ARA/AC/MR/PVS/VSD/DILV/DORV/HLHS/TR/TAS
TOF/HLHS/TGA/VSD/AVS/ CoA/PS
TOF/other
TOF/other/D-TGA/NA/VSD/AVSD/ccTGA/TAPVR/EA/ASD/CACA/EIS/PA, IVS/TA
TOF/p-VSD
TOF/PA
TOF/PA/CBPS/TR
TOF/PA/VSD/DORV/PS
TOF/PA/VSD/UVH
TOF/PS/AS/ CoA/TGA/EA/ASD/VSD/AVSD
TOF/SV/AC/IAA/VSD/ASD/TGA/EA/ccTGA/TA/other
TOF/SV/HRV
TOF/TA/D-TGA/ASD/DORV/other
TOF/TA/DORV/PA/PS/TAS/ES
TOF/TA/PA/DORV/ CoA/VSD/TGA/PVS/CACA/other
TOF/TGA/AVSD/VSD/ CoA/AVS/PVS/HLHS
TOF/TGA/DORV/VSD/PS/PDA/ASD
TOF/VSD/ CoA/AVS/PVS/ccTGA
TOF/VSD/ CoA/AVS/PVS/TGA/AVD/ASD/MI/UVH/DORV/ccTGA/EA of the tricuspid valve/AVI/ASD/other
Transposition
Triatial heart/EA/SV/VSD/TOF/PS/ECD
U-AVSD
Valvular AS
valvulo septal defects
VSD
VSD with PAH/ASD with PAH/PDA with PAH
VSD, CHD with PAH
VSD/ASD
VSD/ASD/AVCD/SV
VSD/ASD/PDA
VSD/ASD/PDA/other
VSD/ASD/PDA/other/TGA/TOF/TA/HLHS/DORV
VSD/ASD/PDA/PAH/ES
VSD/ASD/PDA/PS/AS
VSD/ASD/PDA/TGA/TOR/TA/HLHS/DORV
VSD/ASD/PDA/TGA/TOR/TA/HLHS/DORV/other
VSD/ASD/PDA/TOF/TA/DORV/PA/PS/TAS/ES
VSD/ASD/PDA/TOF/TGA/PTA
VSD/ASD/PS/PDA/TOF/other
VSD/ASD/TAPVR/TOF/TGA/PA/ASD/ CoA/DORV/IAA/PS/other
VSD/ASD/TOF
VSD/ASD/TOF/ CoA/persistent ducts/PVS/AVS/complete TGA/STPVCA
VSD/ASD/TOF/ CoA/PVS
VSD/ASD/TOF/AVSD/DORV/TGA
VSD/ASD/TOF/DORV/ CoA/PDA/PA/TGA
VSD/ASD/TOF/PDA
VSD/ASD/TOF/TGA
VSD/ASD/TOF/TGA/PDA/AVSD/AP/AS/DORV/PA/ CoA/other
VSD/MVD/ASD/BAV/PS/PDA/AS/TOF/ CoA/ASD/EA/AVSD/SMVR/IAA/DCRV/TR/IAA/DTA/PAPVR/PVS/ALCAPA/AVR/TGA/SV/DOV/PA/TA/TAS
VSD/PDA/ CoA/ASD/TGA/HLV/TOF/ECD/TA/other
VSD/PDA/ASD/ CoA/TOF/TGA/PS/AVC/AS/TAS/TA/APVC/PA/EA/other/ioslated PLSVC
VSD/PDA/ASD/PS/TOF/TGA/AVSD/TI/SV/DORV/ CoA/VAS/TA/PA/TA/HLHS/IAA/EA/other
VSD/PDA/TOF/ASD/PS/other
VSD/TA/PDA/TGA
VSD/TOF/ASD/ CoA/PS/AVSD/TGA/AS/BAV/DORV/UVH/EA/PA/Ductus/TA/PTA/SAM/MVP/PVA/other
VSD/TOF/DORV/ CoA/AVSD/TGA/RV/EA/PA/IVS/HLHS/IAA/other
VSD/TOF/PDA/ASD/PS/TGA/DORV/AVSD/ CoA/HLHS/BAV
VT
• non-isolated CHD
CoA, AS
CoA, BAV
CoA, BAV, AVS, MVS, MI
CoA, VSD
CoA, VSD, MR
AA, HRV, MGA
AC, VSD
ALV, TAPVC, VSD
Anomalies of atrioventricular junctions and valves
Anomalies of the atria and interatrial communications
AP window, VSD
AS, BAV
AS, PS
AS, PVS
ASD, AV block, AF
ASD, CoA
ASD, HLHS
ASD, PAPVR, PDA
ASD, PAS, AV block
ASD, PDA
ASD, PFO
ASD, PFO, AV block
ASD, PS
ASD, PS, RVHP
ASD, SVAS, LVH
ASD, VSD
ASD, VSD, arotic aneurysm
ASD, VSD, AV block
ASD, VSD, PDA
ASD, VSD, PDA, other
AV block, TOF
AVI, MVR
AVS, asymm TAV
AVS, AVR, PVS
AVS, HAA
AVS, MVS, AF, VF
AVS, TAA
AVS, VF
AVSD, TGA
BAV, AI
BAV, AS, AVI
BAV, AVI
BAV, AVI, AVS, AVR, TAA
BAV, AVS
BAV, AVS, AVR
BAV, AVS, MVS
BAV, AVS, MVS, AVR, MVR
BAV, CoA, R-L
BAV, CoA, R-NC
BAV, CoA, VSD
BAV, PVS
BAV, TAA
BAV, VSD
BAV, VSD, AV
CIAV, CoA, VSD, parachute mitral valve, transverse hypoplasia
D-TGA, IVS/D-TGA, VSD/AAO, IVS/AAO, VSD
D-TGA, PDA
DCM, apicolateral hypertrophy
DCRV, VSD
DIVM
DOA, LS-CHD
DOA, VSD, BAV
DORV, CoA
DORV, CoA, LSVC, MA, VSD, CSD
DORV, HLV
DORV, PA, DI, SRV
DORV, PFO
DORV, TGA
DORV, TGA, VSD, HAA
DORV, TOF
DORV, TOF, CoA, VSD, ASD, PLSVC
DORV, VSD
DORV, VSD, AAH
DORV, VSD, ASD, PDA
EA, WPW
HA/Fenestrated ASDs
HLHS, AVS
HLHS, hypoplastic mitral and aortic valve, AS
HLHS, MS with hypoplastic MVD, dysplastic PV, PS, L-TGA, DILV, ASD, CAA
HLHS, Shone's Complex
IAA, VSD
L-TGA, VSD, ASD
LS-CHD, other
LV, PDA
LVNC, VSD
MID, RAA, TOF
MV, VSD
MVS, LV
mVSD, CoA, AA
NA
other
PA, ASD
PA, ASD, TVD
PA, IVS
PA, IVS, TA, HRV, ASDII, PDA
PA, rDA, VSD
PA, SYPCA, VSD
PA, VSD
PA, VSD, ASD
PA, VSD, MAPCA
PA, VSD/PS, VSD
PAS, PDA
PDA, LV
PDA, VSD
PFO, P-LRBS
Pm VSD, ASD
PPS, VSD
PS, D-TGA, VSD
PS, DOLV
PS, hypoplastic RV, Long ST/QT
PTA, VSD
PVS, VSD
RAA, TOF, MID
SA, SV
SA, VSD, TVD, RVH
SDMA
SV, ASD
SV, PS
SVAS, PPS
SVAS, PS
TA, D-TGA
TA, PS
TA, PVR
TA, SV SD with OA
TA, VSD, NRGV
TA/AP window
TAPVC, ASD
TGA, ASD
TGA, IVS
TGA, VSD
TGA, VSD, ASD
TGV, PDA, PFO, VSD, CoA/PDA, TGV, VSD, DORV/ CoA, LVH/RVH, SV, TGV, CoA, VSD/HLHS, AA, PDA/TOF, TAPVR, ASD
TGV, VSD, PS
Thickened aortic valves, AF, LV
TOF, APVS
TOF, ASD
TOF, ASD, VSD
TOF, AVSD
TOF, D-TGA
TOF, DORV, PDA, PFO
TOF, MAPCA
TOF, MAPCA/PA, MAPCA
TOF, PA
TOF, PA, PDA
TOF, PAA
TOF, PDA
TOF, PDA, PFO
TOF, PDA/PA, PDA
TOF, PFO
TOF, PFO, congenital pericardial defect
TOF, PFO, DAA
TOF, PFO, RAA
TOF, PLSVC
TOF, PS
TOF, rDA
TOF, VSD
TS, VSD
VI, HLV, MV, D-TGA, DORV, VSD
VSD, AS
VSD, ASD
VSD, ASD, PDA
VSD, ASD, PDA, PAH
VSD, CoA
VSD, CoA, PDA
VSD, DORV
VSD, DORV, PS
VSD, EA, bic AOV
VSD, IAA, ASD
VSD, OA, RVHP
VSD, PA
VSD, PAH
VSD, PAPVC, PFO
VSD, PDA
VSD, PDA, aorticisthmus stenosis
VSD, PDA, ASD, PFO
VSD, PDA, PAS
VSD, PDA, PFO
VSD, PFO
VSD, PFO, AR
VSD, PFO, PAH
VSD, PS
VSD, PS, right atrial dilatation
VSD, RVOT stenosis
VSD, TOF
• isolated CHD/non-isolated CHD
CoA/TOF/LVOTO/ASD, VSD, AVSD/SV/D-TGA/ccTGA/EA/PVS
A-CHD
A-CHD/C-CHD/NA
anomalies of the venous return/ASD/AVSD, OPD/AVC/HLHS/VSD/TOF, TGA/ CoA/CACA
Anomalies of venous return/Anomalies of the atria and interatrial communications/Anomalies of atrioventricular junctions and valves/Complex anomalies of atrioventricular connections/FUH/Anomalies of the ventricular outflow tracts/Anomalies of the extrapericardial arterial trunks/CACA
Anomalies of venous return/Anomalies of the atria and interatrial communications/Anomalies of atrioventricular junctions and valves/Complex anomalies of atrioventricular connections/FUVH/Anomalies of the ventricular outflow tracts/Anomalies of the extrapericardial arterial trunks/CACA
AO/other
AP window/ASD/VSD/AVSD/MVD/other/PDA/PAH/TOF/VSD, RVOTO
AS, VSD/TCPC/PA, VSD/AVSD/PA, EA/DORV, VSD/PA, IVS/TAPVD/other
AS/ CoA/ASD, VSD, AVSD/TGA/TOF/PS/UVH
AS/AC/TOF, PA, VSD/TGA/ccTGA/NA/PAH/TGA, VSD, DORV
AS/AC/TOF/TGA/ccTGA/NA/PAH/TGA, VSD, DORV
AS/ASD/AVC/ CoA/HLHS/PDA/PA/TGV/TOF/VSD, ASD/TAPVC/other
ASD, PS/ASD, AS/ASD, AVR/VSD/VSD, ASD/VSD, ASD, patent ductus/PS/AS/LVRAS
ASD, VSD/non C-CHD/TGA/other
ASD, VSD/VSD/ASD/TGA, VSD/TBA
ASD/AVSD/ccTGA/ CoA/other/EA/ES/TOF/CHD with PAH/VSD
ASD/AVSD/VSD, ASD/AC/TGA/TOF/VSD/PA, VSD/TOF, PA/TAPVC/PA, VSD/TOF, PDA, RAA/PDA, ASD, AC/DORV, VSD, ASD, PS/PA, VSD
ASD/ccTGA/ CoA/other/EA/ES/TOF/VSD
ASD/PDA/TGA/AS/HLHS/TOF/AVC/DORV/PA, VSD/PS/TA/TAS/DILV/SAS/EA/other/PA, IVS/ CoA/MAS/MVP/AVSD/CACA
ASD/PDA/VSD/PS/ CoA/ECD/AS/EA/other/TOF/TGA/DORV/TAPVR/Common ventricle/HLHS/Common truncus/TA/ccTGA
ASD/TOF/VSD/DORV/PDA/EA/AVSD/L-TGA/SV/PA, VSD, MAPCA/TA/PS/TAS/D-TGA
ASD/VSD/AC/TGA/AVSD/ccTGA/EA/TOF/other
ASD/VSD/AVC/PS/PA, RV to PAC/DCRV, VSD/AS/AC/TOF/D-TGA, VSD, PS/ccTGA/SV/EA
ASD/VSD/AVS/PVS/ CoA/TOF/TOF, PA/ccTGA/TGA/EA/DORV/TAPVC/PA, IVS/TGA/TA
ASD/VSD/AVSD/ CoA/TOF/ccTGA/EA/ES/PA/other
ASD/VSD/AVSD/ CoA/TOF/TGA/ccTGA/EA/ES/other
ASD/VSD/AVSD/AC/TOF/TGA/ACHD
ASD/VSD/AVSD/LVOT/AAO/SVES/EAT/AF/atrioventricular re-entry tachycardia/JET/VES/AV block
ASD/VSD/AVSD/PDA/MVS/MP/BAV/AS/PS/DPA/TS/TOF/EA/NA/TGA/TAPVD
ASD/VSD/AVSD/PS/AOS/Bc/ CoA/D-TGA/ccTGA/TOF/EA/other
ASD/VSD/AVSD/TGA/TA/TOF/DORV/PDA/TAPVC/SV, TA/other
ASD/VSD/PA/AS/ CoA/MS/MR/EA/AVC/ALCAPA/D-TGA/Congenitally corrected TGA (s&p double switch)/TA/PA, IVS/SV
ASD/VSD/PAD/AP window/AVSD/SV
ASD/VSD/PAPVC/p-AVSD/TGA, IVS/EA/ CoA/VPS/SAS/SPS/AI/other
ASD/VSD/PAVC/TOF, DORV/PA/EA/L-TGA/APVR/TA/other
ASD/VSD/PDA, ASD/VSD
ASD/VSD/PDA/ CoA/TOF/TGA/TA/other
ASD/VSD/PDA/ASD, VSD/ASD, PDA/VSD, PDA/VSD, ES/PDA, ES/VSD, CHD with PAH
ASD/VSD/PDA/ECD/TOF/EA/DORV/VSD, ES/PDA, ES/ASD, VSD, PDA, ES/ASD, ES
ASD/VSD/PDA/NA
ASD/VSD/PDA/PS/TOF/AVSD/AS/SV/EA/NA
ASD/VSD/PDA/total AVSD/p-AVSD/TAPVD/PAPVD/AC/AOS/ CoA/HLHS/HRHS/EA/PS/PA/TOF/TGA/ccTGA/DORV/SV/other
ASD/VSD/PS/PA, VSD/AS/TA/TOF/TGA/D-TGA, VSD/SV/EA
ASD/VSD/TGA/ CoA/other
ASD/VSD/TOF/other
ASD/VSD/TOF/PDA/other
ASD/VSD/VSD, ASD, PDA/VSD, PDA, PAH/TOF/HLHS/ CoA/PA, VSD, PS/PS, RVOTO/ASD, MRMV, PMT/PA, VSD/SA, SV, CAVC, HLHS/PDA/CAF/VSD, RVOTO, CoA/AS
ASD/VSD/VSD, PFO/other
AV/ASD/VSD/PDA/ASD, VSD, repaired ductus arteriosus/AVSD, ASD/ CoA/DORV/PA/TGA/ccTGA/UV/ES/TOF/EA/other
AV/AV, other/ CoA/VSD/ASD/Sinus venosus ASD/AVSD/TOF/EA/PS/PA, VSD/TGA/ccTGA/ES/LA
AVSD/ccTGA/MS, MR
AVSD/MS, MR
AVSD/PA/PA, TA, VSD/DORV, TGA, VSD/TAC/TA, PA, VSD, HRV/TA, VSD/HLHS/HLHS, ECFE
AVSD/TOF/TGV/TA/HLHS/AOS/HAA/TA/EA/PS, PA/NA
AVSD/VSD/ASD/PVC/TAPVC/MR/PR/AR/AP window/TGA/DORV/TOF/ CoA/TA, IAA/SPS/AS/PA/PA, VSD/SV/TGA, VSD
AVSD/VSD/PA/RV-PA-Cd/TOF/PI/DILV/L-TGA/PAB/TA/AP window/DILV, L-TGA/DORV, SPS/MA/AVSD, CoA, PAB/TA, CoA, PAB
BAV/MVP/VSD/AS/BAV, VSD, ASD/AV/AS, AI/TOF/PA, VSD, RPA/AVSD, PS
BAV/RVSD/MVD/PVS/AVD/ASD/VSD/SVD/PDA/ CoA/EA/PS/AVSD/SVAS/HCM/TOF/DORV/RVD/Shone's Complex/PA/ccTGA/TGA/ES/C-CHD/other
Biventricular/D-TGA/AAA/DORV/TGA/HLHS/AVSD/VSD/PA/VSD/TOF/TA/other
C-CHD
C-CHD/non C-CHD
ccTGA/MS, MR
CHD with LTRS/PDA/ASD/VSD, PDA/VSD/DORV/AVSD
CTDs
D-TGA, IVS/D-TGA, VSD/TOF/TOF, PA/TA/VSD/AVCD/TA, IAA/VSD, CoA/ CoA/arch hypoplasia/SV/PA, IVS/SV/HLHS/other
D-TGA, IVS/D-TGA, VSD/TOF/TOF, PS/TA/VSD/TA, IAA/VSD, CoA/ CoA, AH/PS, IVS/SV/HLHS/SV, AO
D-TGA/D-TGA, VSD, PS/D-TGA, VSD, PA/AVSD/VSD, TVR/VSD, BAV/mechanical AVR for BAV/BAV
D-TGA/IAA/ CoA/TAAH/U-AVSD/VSD/PA, VSD
DIVM
DORV, hyplplastic LV/ CoA, VSD
DORV, hyplplastic LV/ CoA, VSD/VSD/SV, PS
DORV, VSD/TOF/TGA/DOLV, PS/DILV, TGA, PS/ALVT/EA/DILV, VSD, PS/DORV, TGA, VSD, PS/ccTGA/VSD, CA, PLSVC/PA, VSD/TGA, VSD/DORV, VSD, ASD, PS
DOV/ES/SV/PA/TC/TA/LRAI/AVSD/ CoA/EA/TOF/PI/PS/SVA/SAS/ASD/PDA
HLH/AVSD/UVH/PA, IVS/TAPVD/TOF/TGA
HLHS/AH/AS/TOF/VPS/PA, IVS/TA/TGA/TA/AVSD
HLHS/AVSD/PA, IVS/HRHS
HLHS/DILV, HRV, SAS, HAA/IAA/IAA, VSD, AS/AVSD, HLV, TAPVR/IAA, VSD, SAS/IAA, VSD, SAS/ CoA, VSD, AS/ CoA, VSD/D-TGA/D-TGA, VSD, CoA/DORV, D-MGA, CoA/TA, D-MGA, HRV/L-TGA, PA, AVV, TAPVR/TOF, APVS
HLHS/DORV, DORV, IAA/AVSD/TA, IAA/DILV/IAA, VSD/TA
HLHS/DORV/TOF, PA/D-TGA/D-TGA, VSD/TGA/VSD, IAA/TA/PA/DORV, VSD/other
HLHS/HRH/TA/DILV/DORV, MA/SILV/AA/AS, PS/ACD, PS/TOF/TGA/DORV/ACD/VSD/SASD/APVR/EA/PA/TVD/ CoA/AS/IAA/RAI
HLHS/MA/MS/AA/MS/AS/RDACD/DORV/IAA, VSD, SLV/AS, PS, LV/AS, L-TGA, PS, SLV/TA/PA, IVS/DILV/D-TGA, MV, RV/PS, RV
HLHS/SV/TGA, DORV/TGA, IVS/TGA, VSD
HLHS/TAPVR/TOF/ CoA, IAA/TAS/TA/EA/HRH
HLHS/TGA, IVS/TGA, VSD/TOF/TOF, PA/VSD, CoA/VSD, IAA/other
HLHS/TGA/TGA, VSD
HLHS/TOF/DORV/DILV/TA/TGA/ CoA/AVSD/ASD/PVA/AVA/LVOT/AA/VSD/other
HLHS/VSD, PS/UVH, PS/PATR, TOF/UVH/CAT/CAT, IAA/VSD, ASDII/AVSD/VSD, ASD/TGA, AVSD, IAA/AVSD/IAA, VSD, ASD/HLHS/AVSD/TGA, PATR, VSD/TGA/VSD/AVSD/TAPVD/DORV/other
HOCM, SAS, DCRV/VSD/D-TGA, VSD, PS, TVD/MS/DORV, TGA, VSD/ccTGA, PA, VSD/AVSD/AA, VSD, ASD, CoA
HRV/HLHS/SV/DILV/TAPVR/TOF/TOF, CAVC/CAVC/D-TGA, IVS/EA, w-PA/PS/Supracardiac TAPVR/Infracardiac TAPVR/Subaortic VSD w-PS/VSD/TA/TA/AS, CoA/ CoA/PDA/VSD, AAH/DORV, PS
Left UVH/Right UVH/UVH/TA
LHO/TGA/PA/SV/TAPVC/other
LRS/TOF/D-TGA/SV/AVD, PVD/AC/other
LTRS/D-TGA/TOF/SV/AVD/PVD/AC/other
LTRS/TOF/TOF, PA/VSD, PS/TGA/APVR/LVOTO
MID, superior inferior ventricles, PA, VSD, ASD/AVSD, CoA, PDA/TAPVC/PDA, PFO, PDA/TGA/HLHS/HLHS, PDA, CoA/other
NA
NA/VSD/TOF
non C-CHD/C-CHD/other
PA, IVS/TA/TA/TS/HLHS/PA, VSD/Transposition complex/LSOD/ASD/CAA/TA/ECD/TOF/other
PA, VSD/TOF/DORV/PAA
PA/MAPCA/arterial duct/Systemic vein/RVOT, pulmonary trunk/APS/PV/ACA/other
PDA/AC/VSD/AS, TGA/TGA/ASD/ccTGA/ASD/TOF/EIS/EA
PDA/ASD/VSD/ASD, PDA/AS/ASD, VSD/VSD, PDA/ CoA/PS/MVP/PS/SV
PVD
SD/AVSD/MOT/OL/FSV/HTX/other
SD/AVSD/MOT/OL/FSV/other
SV, PS/ASD
SV, PS/AVSD/AS/TOF/TGA/SVAS, PS
SV, PS/VSD/L-TGV/TOF, VSD/ASD/DILV, PS/other
SV/HLHS/PA, IVS/AVC/TAC/TOF/DORV/TAPVC/IAA, VSD/PA, VSD
SV/HLHS/Taussig–Bing anomaly/IAA, AAH/ CoA, AAH
SV/TOF/TGA/PVS/MVA/AVA/other
TA/TGA/TOF/UVH/ACD/HLHS/VSD/ASD/UDSC/APA/TVD/EA/AS/AI/MS/MI/PDA/ CoA/AGV/other
TA/TOF/PA, IVS/D-TGA/PS/D-TGA, DORV
TA/UVH/DORV/MA/PA/other
TA/UVH/DORV/PA/MA/TOF/AVD/ CoA, IAA/VSD/TGA/other
TA/UVH/VSD/DORV/TGA/MA/ CoA, IAA
TAPVR/ASD/VSD/AVSD/ CoA/TGA/ccTGA/CACA/DORV, DILV/EA/PDA/PVD/TA/TOF/other
TCPC/TOF/PA/DORV/ CoA/VSD/ASD/AS, AR
TGA, IVS/TGA, VSD/TOF/TOF, PA/TA/TAPVC/EA/VSD, IAA/ CoA, AAH/other/PA, IVS/HLHS/DORV/ CoA
TGA, VSD/PA, VSD/AVSD, ccTGA, MA/ CoA, VSD/D-TGA, VSD/ccTGA/DORV, MA, PS/TAPVR
TGA, VSD/TGA, AS/TGA, PS/TGA, CoA/TOF/ CoA, VSD/ CoA, AS/VSD, IAA/VSD, PS/VSD, MI/VSD, AS/VSD, ASD/ASD, MA/AVSD/AS/PS, VSD/PS, ASD/SV, PS/SV, PA/PDA/DORV/EA, ASD/PA, VSD/PA, MVP/other
TGA, VSD/TGA, PS, VSD/TGA, PA/TGA, PS/TA, PA/PA, VSD/PA, IVS/DORV, VSD/DORV, PS/DORV, VSD, PS/TOF/TGA/TA/UVH/other
TGA, VSD/TOF, PA, TA/VSD
TGA/PA, TOF
TGA/PA/PS/ CoA/HLHS/other
TGA/TGA, AS/TOF/EA/PS/PR/AS/ CoA/other
TGA/TGA, VSD/AAO/PO
TGA/TOF/DORV/VSD, CoA/PA, VSD/AVSD
TGA/TOF/EA/PS/PR/ CoA/AS/AVSD/ASD/VSD/PDA/other
TGA/TOF/TOF, PA/TOF, TA/VSD/AVCD
TOF, PA/TOF/EA/UVH/TGA/PA/c-TGA
TOF, PA/TOF/VSD, DCRV/VSD/ASD, VSD, PDA/TGA, VSD, PS
TOF, PS, DCRV/ccTGA/ASD, VSD
TOF, PS/DORV, PS/TOF, PA/VSD, ES/PAD, ES/ccTGA, VSD, PS/TA, restrictive VSD/ASD, EM/other
TOF, TA/VSD/ CoA/TGA/other
TOF, VSD/TGA/ASD/SV/CHD/other
TOF/ CoA, IAA/TA, AP window/TGA/SV/HLHS/SV, AAO/PS/TOF, PA/APVS
TOF/ CoA/TGA/HLHS/VSD/AVC/TOF, APV/PA, IVS/EA, TVD/DORV/TAPVR/BAVC/UAVC/PS/AS, AA/IAA/PA, IVS/SV
TOF/ACD/ CoA/IAA/PA/TGA/VSD, ASD/CAT/HLHS/TAPVC/AR/other
TOF/ASD, TI/TAPVC/VSD, ASD, PDA, PAH/TAPVC/PDA/VSD, LVOT/ECD/SV/TGA/DAA/IAA/DORV/other
TOF/ASD, VSD
TOF/ASD/SV/SPF/other/VSD/ASD/EA/CHD with IART
TOF/ASD/VSD with PAH/CAVSD/PS/TA/DORV, PS/TGA/TAPVC/AS, MS/PDA with PAH/other
TOF/ASD/VSD, PAH/CAVSD/PS/TA/DORV, PS/TGA/TAPVC/AS, MS/PDA, PAH/other
TOF/D-TGA, AS
TOF/D-TGA/SV/LTRS/AVD, PVD, CoA/other
TOF/DORV, PS/TGA, ASD/VSD, PS, TAPVD/TGA, VSD/PAD, ES/PA, VSD/TA, restrictive VSD/other/ASD
TOF/DORV/PS/UAVC, DORV, PS/UAVC, TOF/UAVC, DORV, TAPVC/DILV, PS/DORV, MS, PS
TOF/PA, IVS, PDA, ASD/ CoA
TOF/PA, VSD/ CoA/AS/TGA/ccTGA/UVH
TOF/PA, VSD/DORV/TGA/PS/other
TOF/PA, VSD/PS, DORV/PS, VSD/PS, DORV, VSD/DORV, VSD
TOF/PA/RVOTO
TOF/PAH/VSD/ASD/VSD, ASD/PDA/VSD, ASD, PDA/VSD, CoA/ECD
TOF/RV/EA/other
TOF/SD/AVC/AS/SS/ CoA, HA/MV/TAPVR/PS/PA/PI/DORV/EA
TOF/TA/D-TGA/ASD/DORV/SVAS, BPAS/isolated BPAS
TOF/TA/D-TGA/ASD/DORV/SVAS, CBPS/CBPS
TOF/TGA/ASD/PDA/EA/DORV/DCRV/DILV/TA/VSD, RVOTO/PDA, VSD
TOF/TGA/AVD/ CoA, IAA/DORV/other
TOF/TGA/PA, VSD/DORV, MGV/ASD
TOF/UVH/VSD/DORV/TGA/other
TOF/VSD, IPS/VSD, IPS-A/VPS, IPS, ASD/VPS, IPS, ASD/VSD, IPS-A/SVSD, VPS, IPS
TOF/VSD/ CoA/ITA/SV/D-TGA/AVSD/TAPVD/DORV/AV block/PDA/ASD/ccTGA/PA, IVS/MS/MR/TAC/AS/AOR/other
TOF/VSD/ASD, VSD/ASD/AS/TGA/AVSD
TOF/VSD/HLHS/ASD/CAVCD
UVH
UVH/Palliated UVH/PA, IVS/EA/TGA/ccTGA/DORV, TGA/AVA/AC/PA, VSD/TOF/DORV/PAA/ASD/PAPVC/VSD/AVSD/AP window/MVD/TVD/other
UVH/TA/DILV, PA/DILV, PS/DILV/UVH, TGA/HLHS/DOLV/UAVC/PA, IVS/TOF/PA, VSD/TGA/TGA/ACD/EA/SD/MD/AD, CoA/ CoA, VSD/TAPVR/CAA/TOF, ACD/MAD
VSD, ASD, ASDI, PDA/TOF, PS/BAV, AS, SVAS/ CoA/TGA/other
VSD, ASD/VSD, PDA/VSD, RVOTO/TOF/DORV/AVSD/SAS/other
VSD/ASD, VSD/SV/AVSD
VSD/ASD, VSD/TGA, VSD/AVSD, PDA/VSD, PFO/PDA, ASD/AVSD/TA/DORV/PDA, ASD
VSD/ASD/AVSD/HAA, CoA/TGA/TOF/PA/DORV/TAPVD/HLHS/DILV/TA/other
VSD/ASD/AVSD/PDA/AVSD/VSD, PDA/DORV/TGA, VSD/SV
VSD/ASD/PDA/APSD/VSD, PDA/ASD, PDA/ASD, VSD/AVSD/PAH
VSD/ASD/PDA/TOF/PS/BAV/AS/AS/ CoA/TGA/ccTGA/other
VSD/ASD/TGA/ CoA/IAA/other
VSD/ASD/TGA/ CoA/IAA/other
VSD/ASD/TGA/ACD/other
VSD/ASD/TOF/AV/AVC/AS/RVOT/ CoA/PDA/other
VSD/ASD/TOF/DORV/PDA/NA
VSD/ASD/VSD, ASD/PDA/VSD, PDA/ASD, PDA
VSD/ASD/VSD, ASD/TOF, DORV/TGA/TAPVC/PA/other
VSD/ASD/VSD/PDA/BAV/TOF/ CoA/PV/SAS/AVCD/ccTGA/UVA/PA/other
VSD/AVC/PDA/TGA/ASD/ASD, VSD
VSD/AVSD/PDA/ASD/VSD, AVSD
VSD/CAVSD/TOF/TGA, VSD/TGA, IVS/SV, DILV/SV, TA/TAPVC/AOR/AOA/ASD/VSD/PAVSD/PA, VSD/AOS/SV/VSD, CoA/TGA, VSD, LVOTO/ccTGA, VSD/ccTGA, VSD, LVOTO/ALCAPA/RVOTO, PS, AOS
VSD/p-AVSD/VSD, PDA/VSD, SAS/DORV/TAPVC/CAVSD/TA/MS, VSD
VSD/PA, VSD/ASD/PDA/DORV, AC/TA/AVSD/SV/ccTGA, VSD
VSD/PA, VSD/CAVSD/TOF/D-TGA, VSD/ASD, TAPVR/other
VSD/PDA/ASD/VSD, PDA/DORV/AVSD/ECD/TAPVR
VSD/PDA/VSD, PDA/ CoA/VSD/PDA
VSD/TA/PDA/ASD/DORV, MA
VSD/TA/PDA/ASD/DORV, MA/LTRS
VSD/TOF/ASD/PDA/SS/TA/PA, VSD/APVC/ CoA/CAVC/PA, IVS/DORV/D-TGA/TA/other
VSD/VSD, ASD/VSD, CoA/VSD, PDA/AS/PDA/DORV/CAVC/TOF, PA/ECD, PDA/EA/other
VSD/VSD, ASD/VSD, PDA/MS/AS/ CoA, VSD/ CoA/ccTGA/EA/DORV/TOF/ccTGA/ASD/TAC/ccTGA, VSD, PS/TS, HRV, PS/AVAS/other
VSD/VSD, other
VSD/VSD, PDA/ CoA/CAVC/DORV
VSD/VSD, PDA/AS/PDA/VSD, PDA/DORV, VSD/AVSD/ES
VSD/VSD, PDA/RV/ASD/PAPVR/AVSD/HCM/AS/AR/MS/TOF/MR/PA/IVS/ccTGA/other
• NA
A-CHD
AF/intra-atrial reentry tachycardia
BVP/BVP-AAO/SV
C-CHD
C-CHD
C-CHD/A-CHD
CHD with PAH
LSOOL/CTDs/RSOOL/SD/AVSD/Lesions of veins/Lesions of arteries
LTRS
NA
NA, AVR
Normal echo
other
Septa and valve abnormalities
VSD, ASD/AVC/TGA/TOF/ CoA/RV to PA conduit
Variation Type
• Small Variation
• CNV
• Methylation
• Others
Gene Type
Protein Coding
miRNA
Variation Consequence
3 prime UTR variant
5 prime UTR variant
coding sequence variant
downstream gene variant
frameshift variant
inframe deletion
inframe insertion
inframe variant
initiator codon variant
intergenic variant
intron variant
missense variant
splice acceptor variant
splice donor variant
splice region variant
stop gained
synonymous variant
upstream gene variant
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