Syndrome
|
GENE
|
CVM
|
Absence of Abdominal Muscles with Urinary
Tract Abnormality
|
CHRM3
|
PDA
|
Acrocallosal syndrome
|
KIF7
|
ASD, VSD, PS
|
Acrofacial Dysostosis, Nager Type
|
SF3B4
|
TOF
|
Adams-Oliver Syndrome
|
ARHGAP31, DOCK6, EOGT, RBPJ
|
ASD, VSD, PS, TOF
|
Alagille syndrome 1; algs1
|
JAG1
|
PS, TOF
|
Alpha-Thalassemia/Mental Retardation Syndrome
|
ATRX
|
VSD
|
Andersen Cardiodysrhythmic Periodic Paralysis
|
KCNJ2
|
BAV, AS
|
Ankyloblepharon-Ectodermal Defects-Cleft
Lip/Palate
|
TP63
|
VSD, PDA
|
Antley-Bixler Syndrome,
Apert Syndrome
|
FGFR2
|
VSD
|
Aortic Valve Disease
|
NOTCH1, SMAD6
|
AS, BAV
|
Aplasia Cutis Congenita, Reticulolinear, with
Microcephaly
|
COX7B
|
ASD, VSD, TOF
|
Arterial Tortuosity Syndrome; ats
|
SLC2A10
|
AS, PAS
|
Atrial Septal Defect
|
ACTC1,
CITED2, GATA4, GATA6, NKX2-5, TBX20, TLL1
|
ASD, VSD
|
Atrioventricular Septal Defect AVSD2
|
CRELD1
|
AVSD
|
Axenfeld-Rieger Syndrome
|
FOXC1
|
PDA, VSD
|
Baraitser-Winter Syndrome
|
ACTB
|
BAV,AS, PDA
|
Bardet-Biedl Syndrome
|
ARL6,
BBS1,-2,-4,-5,-7,-9,-10,-12, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, TMEM67, TRIM32,
TTC21B, TTC8, WDPCP
|
complex
|
Barth Syndrome
|
TAZ
|
VSD
|
Basal cell nevus syndrome; bcns
|
PTCH1
|
Cardiac fibroma
|
Blepharophimosis-Ptosis-Intellectual Disability
Syndrome
|
UBE3B
|
ASD, VSD, CoA
|
Bohring-Opitz Syndrome
|
ASXL1
|
ASD, VSD
|
Brachydactyly-Mental Retardation Syndrome
|
HDAC4
|
AS
|
Brittle Cornea Syndrome
|
ZNF469
|
MVP
|
C Syndrome
|
CD96
|
VSD, PDA
|
Campomelic dysplasia
|
SOX9
|
ASD, VSD
|
Cantu Syndrome
|
ABCC9
|
BAV
|
Cardiofaciocutaneous syndrome
|
BRAF
|
ASD, PS
|
Carpenter Syndrome
|
MEGF8
|
heterotaxy
|
Carpenter Syndrome 1; crpt1
|
RAB23
|
ASD, VSD, PS, TOF
|
Char syndrome
|
TFAP2B
|
PDA
|
CHARGE Syndrome
|
CHD7
|
TOF, ASD, VSD, DORV,
PDA, PS
|
Coffin-Lowry Syndrome
|
RPS6KA3
|
MR
|
Cohen Syndrome
|
VPS13B
|
MVP
|
Cornelia de Lange Syndrome
|
NIPBL
|
ASD, VSD
|
Conotruncal Heart
Malformations
|
CFC1, GDF1, GATA6,
NKX2-5, NKX2-6, TBX1, ZFPM2
|
TOF, DORV, TA
|
Costello Syndrome
|
HRAS
|
PS, MVP, VSD, ASD,
Hypertrophic cardiomyopathy,
Arrhythmias
|
Cranioectodermal Dysplasia
|
IFT122, IFT43
|
BAV, PS
|
Cutis Laxa, Autosomal Dominant
|
ELN
|
MR, AI, SVAS
|
Cutis Laxa, autosomal recessive
|
FBLN5
|
SVAS, vascular
tortuosity
|
Desmosterolosis
|
DHCR24
|
TAPVR
|
Diamond-Blackfan Anemia
|
RPS19
|
VSD
|
DiGeorge Syndrome
|
TBX1
|
VSD, TOF, DORV, IAAB,
TGA
|
Distal Arthrogryposis,
type 9
|
FBN2
|
ASD, VSD, BAV
|
Donnai-Barrow syndrome
|
LRP2
|
VSD
|
Duane-Radial Ray Syndrome
|
SALL4
|
ASD, VSD
|
Ehlers-Danlos
Syndrome, Cardiac Valvular Form
|
COL1A2
|
MVP, MR, AI
|
Ehlers-Danlos Syndrome, Vascular
|
COL3A1
|
MVP
|
Ellis-van Creveld Syndrome
|
EVC, EVC2
|
Common Atrium, ASD
|
Familial Thoracic Aortic Aneurysm
|
MYH11
|
PDA
|
Fanconi Anemia
|
FANCC, FANCA,
FANCD2, RAD51C
|
ASD, VSD
|
Feingold Syndrome
|
MYCN
|
PDA
|
Floating-Harbor Syndrome
|
SRCAP
|
ASD, Mesocardia, CoA, Persistent
left SVC
|
Frontonasal Dysplasia
|
ALX3
|
TOF
|
Geleophysic Dysplasia
|
ADAMTSL2, FBN1
|
AS, AI, MS, MR
|
Generalized Arterial Calcification of
Infancy
|
ABCC6, ENPP1
|
|
Genitopatellar Syndrome; Ohdo Syndrome
|
KAT6B
|
ASD, VSD
|
Hajdu-Cheney Syndrome
|
NOTCH2
|
ASD, VSD, PDA
|
Hamamy Syndrome
|
IRX5
|
AVSD, ASD, PDA
|
Heart-Hand Syndrome, Slovenian type
|
LMNA
|
Conduction
|
Hennekam lymphangiectasia-lymphedema
syndrome
|
CCBE1
|
ASD, VSD, Pericardial
lymphangiectasia
|
Heterotaxy Syndrome
|
ACVR2B, CCDC11, CFC1,
CRELD1, FOXH1, GALNT11, GDF1, MED13L, MEGF8, NEK2, NKX2-5, NODAL, INVS,
NPHP3, NPHP4, NUP188, PKD2, ROCK2, SHROOM3, TGFBR2, LZTFL1, BCL9L, ZIC3
|
heterotaxy
|
Hirschsprung, Cardiac
Defects and Autonomic Dysfunction
|
ECE1
|
PDA, VSD, ASD
|
Histiocytosis-Lymphadenopathy
Plus Syndrome
|
SLC29A3
|
ASD, VSD, MVP, BAV, cardiomyopathy
|
Holt-Oram syndrome; hos
|
TBX5
|
ASD, VSD, HLHS, TOF,
TAPVR
|
Hydrolethalus Syndrome
|
HYLS1, KIF7
|
AVSD, VSD
|
Hypermethioninemia due
to Adenosine Kinase Deficiency
|
ADK
|
ASD, PS
|
Johanson-Blizzard Syndrome
|
UBR1
|
ASD, VSD, heterotaxy
|
Joubert syndrome
|
TCTN3,
TMEM237
|
VSD
|
Kabuki syndrome
|
KDM6A, KMT2D
|
ASD, VSD, CoA
|
Keutel syndrome
|
MGP
|
VSD
|
Kleefstra Syndrome
|
EHMT1
|
VSD, TOF, DORV
|
Koolen-Devries
Syndrome
|
KANSL1
|
ASD, VSD, PS, BAV, Aortic
dilatation
|
Larsen Syndrome
|
FLNB
|
ASD, VSD
|
Left Ventricular Noncompaction
|
ACTC1, DTNA, LDB3, MIB1,
MYBPC3, MYH7, PRDM16, TNNT2, TPM1
|
VSD, MR, HLHS, Ebstein
|
Lethal Restrictive Dermopathy
|
ZMPSTE24
|
ASD, PDA
|
Loeys-Dietz Syndrome
|
SMAD3, TGFB2, TGFBR1,
TGFBR2
|
ASD
|
Lujan-Fryns Syndrome
|
MED12
|
ASD, VSD, aortic
aneurysm
|
Lymphedema-Distichiasis Syndrome
|
FOXC2
|
TOF
|
Mandibulofacial Dysostosis, Guion-Almeida
Type
|
EFTUD2
|
ASD, VSD
|
Marshall-Smith syndrome
|
NFIX
|
ASD, PDA
|
McKusick-Kaufman syndrome
|
MKKS
|
VSD
|
Megalencephaly-Capillary
Malformation-Polymicrogyria Syndrome
|
PIK3CA
|
VSD
|
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus
Syndrome
|
AKT3
|
ASD, VSD, Vascular
Ring
|
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus
Syndrome
|
PIK3R2
|
ASD, VSD, Vascular
Ring
|
Microcephaly-Capillary Malformation Syndrome
|
STAMBP
|
ASD, VSD
|
Microphthalmia with Limb Anomalies
|
SMOC1
|
Inferior vena cava
interruption with azygos continuation
|
Microphthalmia, Syndromic
|
BCOR, STRA6, HCCS
|
ASD, VSD, MVP, HLHS,
SV, PS
|
Miller-Dieker Lissencephaly Syndrome
|
PAFAH1B1
|
VSD
|
Mosaic Variegated Aneuploidy Syndrome
|
CEP57
|
ASD, VSD, AI, CoA,
subaortic stenosis
|
Mowat-Wilson Syndrome
|
ZEB2
|
VSD, ASD, PS, PDA,
PAS, pulmonary artery sling
|
Mulibrey Nanism
|
TRIM37
|
Myocardial fibrosis
|
Multiple Congenital Anomalies-Hypotonia-Seizures
Syndrome
|
PIGA, PIGN, PIGT
|
ASD, PDA
|
Multiple Intestinal Atresia
|
TTC7A
|
VSD
|
Multiple Joint Dislocations, Short Stature, Craniofacial
Dysmorphism,
|
B3GAT3
|
LVH, BAV, MVP, ASD,
PFO
|
Multiple Pterygium Syndrome
|
CHRNA1, CHRND, CHRNG
|
Cardiac hypoplasia
|
Myhre Syndrome
|
SMAD4
|
ASD, VSD, AS, PDA,
CoA,
Pericardial effusion
and fibrosis
|
Neonatal Inflammatory Skin and Bowel Disease
|
ADAM17
|
LV dilation
|
Nephronophthisis
|
ANKS6, INVS, NPHP4
|
AS, PS, PDA,
Heterotaxy
|
Neurofibromatosis-Noonan Syndrome
|
NF1
|
PS
|
Noonan Syndrome
|
PTPN11, KRAS, SOS1,
RAF1, NRAS, BRAF,
MEK1
MEK2,
SHOC2,
CBL,
SPRED1, RIT1
|
PS, ASD, CoA
|
Ogden Syndrome
|
NAA10
|
VSD, ASD, Conduction
|
Omodysplasia
|
GPC6
|
ASD, VSD
|
Opitz GBBB Syndrome
|
MID1
|
VSD
|
Orofaciodigital Syndrome
|
OFD1
|
VSD
|
Osteopathia Striata with Cranial Sclerosis
|
AMER1
|
ASD, VSD
|
Pallister-Hall Syndrome; phs
|
GLI3
|
VSD, CoA, PDA
|
Periventricular Heterotopia
|
FLNA
|
TOF, VSD
|
Perlman Syndrome
|
DIS3L2
|
IAA
|
Peroxisome Biogenesis Disorder
|
PEX1
|
HLHS
|
Peters-Plus Syndrome
|
B3GALTL
|
ASD,VSD, PS
|
Polycystic Kidney Disease, autosomal
dominant
|
PKD1
|
AS, MVP
|
Primary Ciliary Dyskinesia
|
AK7, CCDC103, CCDC114,
CCDC39, CCDC40, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, HEATR2,
HYDIN, LRRC50, LRRC6, NME8, RSPH4A, RSPH6A, RSPH9
|
Heterotaxy
|
Psychomotor retardation, epilepsy, and
craniofacial dysmorphism;
|
SNIP1
|
AS, BAV
|
Renal-Hepatic-Pancreatic Dysplasia
|
NPHP3
|
ASD, AS, PDA,
heterotaxy
|
Renpenning syndrome 1; rens1
|
PQBP1
|
ASD, VSD, TOF,
heterotaxy
|
Retinal Arterial Macroaneurysm with Supravalvular
Pulmonic Stenosis;
|
IGFBP7
|
PS
|
Roberts Syndrome
|
ESCO2
|
AS
|
Robinow Syndrome, autosomal dominant
|
WNT5A
|
PS
|
Robinow Syndrome, autosomal recessive
|
ROR2
|
PS, PAS
|
Rubinstein-Taybi Syndrome
|
CREBBP
|
ASD, VSD, PDA
|
Saethre-Chotzen Syndrome; scs
|
TWIST1
|
ASD, VSD
|
Schinzel-Giedion Syndrome
|
SETBP1
|
ASD
|
Severe Congenital Neutropenia
|
G6PC3
|
ASD
|
Short Rib-Polydactyly Syndrome
|
NEK1
|
VSD, ASD
|
Sillence type I
osteogenesis imperfecta
|
COL1A1
|
MR, AS
|
Simpson-Golabi-Behmel Syndrome
|
GPC3
|
VSD, PS
|
Smith-Lemli-Opitz syndrome
|
DHCR7
|
ASD, VSD, CoA, PDA,
HLHS
|
Smith-Magenis Syndrome
|
RAI1
|
VSD
|
Sinoatrial Node
Dysfunction and Deafness
|
CACNA1D
|
arrhythmia
|
Sotos Syndrome
|
NSD1
|
PAIVS, ASD, VSD, PDA
|
Spondylocostal Dysostosis
|
DLL3, HES7, LFNG,
MESP2, TBX6
|
VSD, PDA,
Dextrocardia, Complex
|
Spondyloepimetaphyseal Dysplasia with Joint
Laxity
|
B3GALT6
|
ASD,VSD, MR, BAV
|
Spondyloepiphyseal
Dysplasia With Congenital Joint Dislocations
|
CHST3
|
VSD, MS, MR, TS, AS,
AI, PS
|
Stickler syndrome, type i; stl1
|
COL2A1
|
MVP
|
TARP syndrome
|
RBM10
|
ASD
|
Tetraamelia, autosomal recessive
|
WNT3
|
Peripheral pulmonary
vessel aplasia
|
Thiamine Responsive
Megaloblastic Anemia
|
SLC19A2
|
ASD, VSD,
Conduction defects
& Arrhythmias,
Cardiomyopathy
|
Townes-Brocks Syndrome
|
SALL1
|
TOF, VSD
|
Trichohepatoenteric Syndrome
|
SKIV2L, TTC37
|
AI, PS, VSD, TOF, PS
|
Tuberous Sclerosis
|
TSC1, TSC2
|
Cardiac Rhabdomyoma
|
Ulnar-Mammary Syndrome
|
TBX3
|
VSD, WPW
|
VATER Association
|
HOXD13
|
VSD, TOF, TGA
|
Warsaw Breakage Syndrome
|
DDX11
|
VSD, TOF
|
Weill-Marchesani Syndrome
|
ADAMTS10
|
AS, PS, VSD, MR, PDA
|
Wolf-Parkinson-White
|
BMP2
|
WPW
|
Yunis-Varon Syndrome
|
FIG4
|
TOF, VSD
|
Abbreviations:
AI - Aortic
Insufficiency
AS - Aortic
Valve Stenosis
ASD - Atrial
Septal Defect
AVSD -
Atrioventricular Septal Defect
BAV - Bicuspid
Aortic Valve
CoA -
Coarctation of the aorta
DORV - Double
Outlet Richt Ventricle
HLHS -
Hypoplastic Left Heart Syndrome
IAA -
Interrupted Aortic Arch
IAAB -
Interrupted Aortic Arch Type B
LVH - Left
Ventricular Hypertrophy
MR - Mitral
Regurgitation
MS - Mitral
Stenosis
MVP - Mitral
Valve Prolapse
PAIVS -
Pulmonary Artery Stenosis with intact ventricular septum
PAS -
Pulmonary Artery Stenosis
PDA - Patent
Ductus Arteriosus
PFO - Patent
Foramen Ovale
PS - Pulmonary
Valve Stenosis
SVC - Superior
Vena Cava
SVAS -
Supravalvar Aortic Stenosis
TAPVR - Total
Anomalous Pulmonary Venous Return
TGA -
transposition of the great arteries
TOF -
tetralogy of Fallot
TS - Tricuspid
Stenosis
VSD - Ventricular
Septal Defect
WPW -
Wolf-Parkinson-White conduction defect
