Thursday, March 27, 2014

Human Syndromes (and Genes) Associated with Cardiovascular Malformations (updated 11-JUN-2014)












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