Familial Bicuspid Aortic Valve
Watchlist
Retrieved
2021-01-23
Source
Trials
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Genes
NOTCH1,
SMAD6,
GATA5,
NKX2-5,
ROBO4,
ENPP1,
MMP2,
FBN1,
TGFBR2,
ACTB,
GATA4,
ACTA2,
GATA6,
ELN,
TGFBR1,
B3GAT3,
NR2F2,
FBN2,
LOX,
TGFB2,
MMP14,
TBL2,
SLC25A24,
SRY,
NXN,
CRELD1,
SKIV2L,
RPL26,
RFC2,
RAC1
NOTCH1,
SMAD6,
GATA5,
NKX2-5,
ROBO4,
ENPP1,
MMP2,
FBN1,
TGFBR2,
ACTB,
GATA4,
ACTA2,
GATA6,
ELN,
TGFBR1,
B3GAT3,
NR2F2,
FBN2,
LOX,
TGFB2,
MMP14,
TBL2,
SLC25A24,
SRY,
NXN,
CRELD1,
SKIV2L,
RPL26,
RFC2,
RAC1,
PRKG1,
SNIP1,
CCNQ,
B3GALT6,
MYLK,
MYH11,
KANSL1,
ATP8,
MAP3K7,
ARHGAP31,
MCTP2,
BAZ1B,
TAB2,
ABCC9,
TTC37,
GTF2IRD1,
CHST3,
ATP6,
NAA10,
TGFB3,
MFAP5,
MLXIPL,
BCOR,
CLIP2,
PACS1,
IFT122,
SLC9A3R2,
LINC01708,
FOXE3,
LIMK1,
GTF2I,
GJA8,
GJA5,
SMAD3,
FLNC,
FLNA,
FOXF1,
DSP,
MAT2A,
DSG1,
CTNNB1,
CBL,
TGFB1,
TIMP1,
TIMP3,
MMP9,
MIR3688-1,
SPP1,
MIR424,
ENG,
LPA,
TLR4,
SLC22A3,
CCN2,
ACE2,
CRK,
TBX20,
CRP,
MAPK14,
SSH3,
TRPV6,
QRSL1,
PDIA2,
NF1,
NOS3,
ODC1,
EGFR,
GIT1,
CRAT,
APOE,
MEFV,
ARSD,
TEX26,
AKT1,
AGT,
HMCN2,
ACAN,
MIR106A,
MIR145,
MIR17,
MIR195,
MIR200C,
MIR27A,
MIR29A,
MIR486-1,
EGR2,
RNF19A,
POLDIP2,
FOSB,
AIMP2,
MAPK1,
VEGFA,
UBC,
MAPK3,
MAA,
LTBP3,
LRP5,
TNC,
ITK,
JUN,
JUNB,
JUND,
SOD3,
SOD2,
GAPDH,
AXIN1,
SLC7A1,
LTBP4,
ATP6V0A2,
SIRT1,
FGF8,
ADAMTS5,
AHSA1,
SMAD7,
ZEB2,
MATR3,
MMP1,
PITX1,
PLOD1,
GRAP2,
FN1,
FOS,
APLN,
SOD1
Drugs
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Registered!
Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).