Most common fetal cardiac anomalies
Common congenital heart defects CHD % of cardiac defects Chromosomal Infants Fetuses anomaly (%) 22q11 deletion (%) VSD 30 5~10 20~40 10 PS 9 5 (PA w/ VSD) HLHS 7~9 16 4-5 CoA 7 11 7-35 (IAA) TOF 3.5~7 >7 50 10~15 c-tga 5~8 5.5 <1 <1 AVSD 5 ~18 40~60 (ASD)
Contents 1. Ventricular Septal Defects (VSD) 2. Atrioventricular Septal Defects (AVSD) 3. Pulmonary stenosis (PS) 4. Tetralogy of Fallot (TOF) - perimembranous subaortic VSD - infundibular (infravalvular) PS
Ventricular Septal Defects (VSD)
Ventricular Septal Defects (VSD) Inlet VSD: In apical 4CV, posterior to TV Muscular VSD: In apical or subcostal 4CV Perimembranous VSD: In 5CV, beneath AV Outlet VSD: In short axis view of great vessels, beneath PV
PM VSD [ 5CV ] - more than one plane Anechoic area in IVS Below AV level above: overlapping MPA Color Doppler: bidirectional shunting (inconsistent) L-to-R shunting in systole R-to-L shunting in diastole
Inlet VSD [ Apical 4CV] Echogenic borders of VSD Color Doppler: shunting DDx: Echo dropout, Color overlapping, AVSD
Muscular VSD [ 4CV: apical or subcostal ] Large: >2-3 mm Echogenic borders of VSD Small at the apex: not visible in gray scale Color Doppler: bidirectional flow
DDx Echo dropout : Apical 4CV High color gain: color overlapping over septum Shunting in VSD: low-velocity passive flow
VSD: 4CV (subcostal & apical/basal) & 5CV w/ color Doppler
Atrioventricular Septal Defects (AVSD) Endocardial cushion defect, AV canal defect Best detected in apical 4CV
Atrioventricular Septal Defects (AVSD) Endocardial cushion defect, AV canal defect Complete AVSD (97%) : Primum ASD + VSD + common AV valve (linear AV valve) Incomplete AVSD : Primum ASD + cleft in MV and/or TV = Ostium primum ASD (Primum ASD w/o large VSD) - Mitral annulus displaced apically: linear AV valve insertion (+)
AVSD In diastole, wide opening within center Color Doppler: single channel of blood In systole, linear common AV valve
AVSD In diastole, small AVSD : difficult to detect In systole, linear common AV valve Color Doppler: common valve regurgitation DDx: Inlet VSD (AV valve level), LSVC (dilated coronary sinus: Doppler)
DDx L R LA L Apical insertion of TV Color Doppler: shunt RA RV R LV cctga w/ VSD
Major cardiac defects according to NT Increased NT, TR & abnormal DV flow during 1 st trimester Chromosomal defects (high incidence of AVSD, TOF) Major cardiac defects (AVSD, TOF) with normal karyotype - impairment in cardiac function * Manifested only during 1 st trimester fetal heart compliance: low & cardiac afterload: high (placental resistance)
AVSD: Increased NT & Aneuploidy (T18) [12w3d] NT (4.77 mm), NB (-)
AVSD: Increased NT & Aneuploidy (T18) [12w3d] 4CV: R/O AVSD
[12w3d] 4CV: R/O AVSD defect in the center
AVSD: Increased NT & Aneuploidy (T18) [12w3d] TR (-) (TR:>60 cm/s, >50% of the systole)
AVSD: Increased NT & Aneuploidy (T18) [12w3d] DV: reversed a wave CVS: 47,XX,+18
AVSD: Increased NT & Euploidy [12w5d] Increased NT (5.3mm), NB (+) CVS: 46,XY
AVSD: Increased NT & Euploidy [15w2d] R/O AVSD CVS 검체 : 22q11 deletion (-)
AVSD: Increased NT & Euploidy LV RV LA RA [20w5d] 4CV: R/O complete AVSD (unbalanced)
AVSD: Increased NT & Euploidy [20w5d] Arch view: R/O ctga or DORV w/ subpul VSD
Valvular PS (m/c) Pulmonary Stenosis (PS) Obstruction of RVOT fusion of valve commissures or dysplastic PV post-stenotic MPA dilatation variable - profound dilatation in mild cases RV variable (dilatation ~ hypoplasia) - pressure-induced hypertrophy - shunts in fetal circulation: FO, DA often a/w TR: RA dilatation Infravalvular (infundibular) PS: part of TOF Supravalvular PS: rare
PS [34w6d] Hypertrophic RV wall, Small RV lumen, Post-stenotic dilatation
TR, Antegrade flow across PV PS [34w6d]
[ DA flow ] Retrograde flow a/w PA development PS [34w6d]
PS [20w1d] R L Heart axis: 90 ; Cardiomegaly: HC/TC = 0.74; RA dilatation
PS [20w1d] LV RV RA RA dilatation; TR: holosystolic
PS [20w1d] Ao RV RVOT Thickened PV; Hypoplasia of pulmonary trunk
PSV across PV: high-flow velocity (150 cm/s) PS [20w1d]
PS [20w1d] PAIVS [23w6d] RA LA LV RV Cardiomegaly: HC/TC = 0.83 ( 0.74); RA dilatation ; TR
PS [20w1d] PAIVS [23w6d] Ao MPA RV PAIVS: retrograde flow from DA to MPA
Tetralogy of Fallot (TOF), classic form Subaortic malaligned VSD: perimembranous (m/c) Overriding dilated aortic root (>50% overlies LV) Infravalvular (infundibular) PS - hypoplasia of pulmonary trunk (almost always) - MPA/AAo 0.5~0.8: mild to moderate PS - MPA/AAo <0.5: severe PS - PS may progress to PA RV hypertrophy : typically not present prenatally : shunts in fetal circulation (FO, DA, VSD: R-to-L)
Increased NT (3.51mm), NB (+) CVS: 46,XX TOF [11w2d]
TOF [15w2d] LV RV AAo 5CV: overriding Ao R/O TOF CVS 검체 : 22q11 deletion (-)
TOF [15w2d] RV LV Arch view: overriding Ao R/O TOF
TOF [22w5d] LV RV LA RA 4CV: Axis - leftward deviation
TOF [22w5d] LV AAo RV 5CV: subao VSD, overriding Ao
5CV: subao VSD, overriding Ao TOF [22w5d]
TOF [22w5d] Rt AAo MPA Lt 3VV: AAo dilated, Rt anterior deviation; MPA-narrow but patent
TOF [22w5d] MPA AAo OT: MPA/AAo=0.30/0.52=0.58 R/O PS
SubAo VSD, overriding Ao TOF [28w3d]
R/O PS: MPA/Ao=0.37/0.72=0.51 ( 0.58) TOF [28w3d]
PS: turbulent antegrade flow w/ color aliasing TOF [28w3d]
PS: PSV = 128 cm/s (>90 cm/s at 28wks) TOF [28w3d]
Take home message Ventricular Septal Defects (VSD) - 4CV (subcostal & apical/basal) & 5CV - with color Doppler - chromosomal abnormalities: 20~40% Atrioventricular Septal Defects (AVSD) - apical 4CV - common AV valve: linear AV valve insertion - chromosomal abnormalities: 40~60%
Take home message Pulmonary stenosis (PS) - Valve leaflets: visible throughout systole & diastole - CD: turbulent antegrade flow with color aliasing - PD: high-flow velocity (> 80~100 cm/s) Tetralogy of Fallot (TOF) - 5CV: perimembranous subaortic VSD, overriding Ao - 3VV: AAo dilated, right anterior deviation - 3VV w/ CD: MPA narrow but patent (MPA/AAo: <0.8)